Category Archives: Gene Therapy Clinics

Bedford Biotech Restores "Meaningful Vision" in Blind Patients With Gene Therapyand May Soon Go Public Dallas Innovates -…

Update 6/23/21: Nanoscope Therapeutics announced today that it has received FDA approval of its Investigational New Drug application for its Phase 2b clinical trial of MCO-010, an ambient-light activatable optogenetic monotherapy to restore vision in patients with advanced retinitis pigmentosa (RP). Its randomized, double-blind, sham-controlled Phase 2b trial will begin this month in locations across the U.S.

When you have retinitis pigmentosa, the world slowly goes dark. Most patients with RP lose most of their sight by young adulthood and are often legally blind by age 40. The genetic disorder affects around one in 4,000 people, causing the retinas photoreceptive cells to degrade over time. But a new gene therapy is giving hope and producing life-changing resultsand it could lead to treatments for far more common retinal diseases.

Bedford-based Nanoscope Therapeutics is trying to turn the light back on for RP patientsby developing gene therapies using light-sensitive molecules that could re-sensitize the retina to detect low light levels. That could restore vision in millions of visually impaired people who suffer from RP and other retinal degenerative diseases, like Stargardt disease and dry age-related macular degeneration (AMD). The startups gene therapies, called optogenetics, aim to bring sight to the blind. Nanoscope is one of a number of teams and companies exploring optogenetics as a treatment for RP.

There is no treatment for the diseases that were working on, Nanoscopesco-founder, president, and chief scientific officer, SamarendraMohanty, told Dallas Innovates. So theres a real unmet need that we are trying to fill.

Samarendra Mohanty [Photo: Nanoscope Therapeutics]

Nanoscope, a clinical-stage biotech company, announced earlier this month that its Phase 1/2a clinical study using Multi-Characteristic Opsin (MCO) on RP patients had restored clinically meaningful vision. Significant dose-dependent improvement of visual acuity was demonstrated at 16 weeks, and continued through one year in patients suffering from severe RP, the company said.

The study included 11 patients with advanced RP who had either no light perception or just perception of light in the study eye and no better ability than counting fingers in their other eye. The studys initial positive results were reported at the American Academy of Ophthalmologys 2020 annual meeting last November.

After MCO treatment, the patients reported long-lasting improvements in outdoor light sensitivity and daily activities, saidthe principal investigator, Dr. Santosh Mahapatra, an ophthalmologist and eye surgeon, in a statement. We were pleasantly surprised that after eight weeks of treatment, some subjects could attend their follow-up visits during the study without the assistance of a chaperone. Some of the patients even gained the ability to read letters on a wall or even the large text in a newspaper, use a cell phone, watch television, and could even thread a needle.

Another benefit of the treatment: Vision restoration was produced without the need of stimulating retinal implants or explants (goggles).

Nanoscope co-founder and CEO Sulagna Bhattacharya said the trial studys impact on patients lives has been powerful.

Their quality of life improves significantly, she told us. This is a relief to patients family members, healthcare systems, and society as a whole.

Sulagna Bhattacharya [Photo: Nanoscope Therapeutics]

We expect to begin the first randomized, placebo-controlled, double-masked Phase 2b multi-center optogenetic trial in the U.S. this summer to further validate our gene therapys ability to improve clinically meaningful vision in RP patients, Bhattacharya said in the statement. If successful, it will be the first-ever restorative drug for millions of RP patients worldwide.

On June 23 the company announced it has received FDA approval of its application for the 2b trial, and specified that the trial would begin this month. The trial will involve eight to 10 centers in the U.S., from Beverly Hills to Florida to other locations on the east coast.

[Image: Ivan-balvan/istockphoto]

Nanoscopes RP gene therapy has received orphan drug designation from the FDA. It uses a proprietary AAV2 vector to deliver MCO genes into the retina. This mutation-independent gene therapy is delivered via a single injection through the eye administered in a doctors office.

All 11 subjects participating in the trial had objective and subjective improvement in functional vision, Nanoscope reports. Shape discrimination accuracy improved more than 90% in all the subjects compared to baseline. Further, the performance in two different mobility tests improved by 50%, including the reduction in time to touch a lighted panel. Nanoscope says the test outcomes were highly correlated with improved patient-reported outcomes.

Nanoscopes co-founder, Mohanty, is the inventor of the technology used in the trial.

Optogenetics is a powerful research tool, he said in a statement, but had limited scope of clinical benefit because the opsins had a narrow band of activation, unlike natural light environment. MCO is sensitive to broadband light and activatable by ambient light, thus eliminating the risk of photo-toxicity from long-term continuous use of external intense light stimulation devices.

Nanoscope Therapeutics got a $2 million grant from the National Eye Institute in June 2020 and closed anoversubscribed Series A funding roundin July 2020 to help fund its clinical trial.The startup, a TechFW client, is a spinout from Nanoscope Technologies, serving as a commercialization partner for the R&D enginesMCO vision restoration work. It has 12 employees and a group of consultants and advisors.

Nanoscope Technologies, meanwhile, has received around$10 million in grants from theNational Institutes of Health to help fund its R&D,Bhattacharya said.

The CEO added that the RP study could lead to pivotal results.

Were very excited about our Phase 1/2a results, Bhattacharya said. This trial has the potential to become pivotal, which will allow our product to be available in the clinics to treat millions of blind individuals for whom there is no treatment so far.

Beyond the RP trials, Mohanty says his company placing a big focus on dry age-related macular degeneration (AMD),

Thats a big indication that we are targeting, Mohanty said of AMD, since unlike RP, AMD is super prevalent. According to the National Eye Institute, 11 million Americans have AMD.

Mohanty said that AMD is very rapidly progressing as we are aging and worldwide there are major concerns.

Nanoscope plans to initiatemultiple trials to treat both dry AMD and Stargardt disease, another inherited retina disorder.

Nanoscope Technologies was founded in 2009 by Mohanty. Bhattacharya joined the company as co-founder in 2013. Mohanty and CFO Anthony Togba told Dallas Innovates they are open-minded to the option of going public with their company, and doing due diligence to prepare for that potentiality.

CFO Anthony Togba [Photo: Nanoscope Therapeutics]

Togba says the company is performing readiness activities, undertaking internal processes, and putting in place the structures to be ready to go public.

The timeline? By late Q4 or before, well have a better idea about where were headed, Togba said. The upcoming clinical trial is the preoccupation now to make sure that we have a flawless execution to obtain those results that we expect.

Quincy Preston contributed to this report. It was updated on 6/23/21 to reflect FDA approval of Nanoscopes Phase 2b trial application.

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The investment was led by Advantech Capital, a PE fund based in China that focuses on TMT, pharmaceuticals, and healthcare. This combined with the support from the Cancer Prevention and Research Institute of Texas (CPRIT), which granted OncoNano $9.97 million last year, will support Phase 3 clinical trials for the biotech's technology that can diagnose and treat cancer with high specificity.

Taysha Gene Therapies, which rocketed from a UTSW spinout to a $157 million IPO in under six months last year, has gone global with rights to TSHA-120, apromising AAV9 clinical-stage genetherapy. It's a historic announcement. There are no current treatments for giant axonal neuropathy, or GAN,a severe, progressive disease that affects the central and peripheral nervous systems.TSHA-120 is the first-ever successful in-human intrathecal (spinal) gene transfer.

In this weekly roundup of executive moves in North Texas, you'll also find news from Liberty Capital Bank, Krista Software, Tuesday Morning, Trive Capital, Cantey Hanger, UNT, JUNO, NuZee, Jaunt Air Mobility, Korbyt, and ID90 Travel.

The Series C funding brings Allied BioSciences total to more than $80 million, the team told us. It will be used to grow the biotech's flagship product, SurfaceWise2, which is an active surface coating that can continuously destroy 99.9 percent of viruses on surfaces. Last year, SurfaceWise2 was the first and only surface coating that the EPA approved for continuous protection against COVID-19 with a single application.

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Bedford Biotech Restores "Meaningful Vision" in Blind Patients With Gene Therapyand May Soon Go Public Dallas Innovates -...

‘Like turning back the clock’: Windsor dad with cystic fibrosis among patients seeking access to new therapy –

Windsor, Ont., dad Rian Murphy has had cystic fibrosis since childhood, and wants to live to see his year-old son grow up. Murphy has hope he and other people with the respiratory disease will get access to a new drug, Trikafta, which was approved Friday by Health Canada.

Rian Murphy was diagnosed with cystic fibrosis as a child andnever expected to live into his 30s, but Health Canada's recent approval of a new breakthrough drug treatmenthas theWindsor, Ont., dad hopefulhe'll be spending many more years with hisson.

"It's a massive step going forward for cystic fibrosis patients such as myself," said Murphy about the triple-combination therapy Trikafta. "At the end of the day, it's a big, big window of opportunity for us to look down the road, future-wise."

On Friday, Trikaftawasapproved for use in patientsage 12 and over who have aminimum of one of the CF F508del gene mutations.

Cystic Fibrosis Canada (CFC) calls Trikaftaa "transformational" therapy that couldtreat up to 90 per centof Canadianswith theprogressive, genetic disease, whichaffects the lungs and digestive system, and is the most common fatal genetic disease in children. TheCFCestimates one in every 3,600 children is born with the disease, and over4,370 Canadiansattend specialized clinics.

Over time, the CFC says, Trikafta could reduce severe lung disease by 60 per cent andthe number of deaths by 15 per cent,and increase life expectancy by several years, the CFC says in quoting research.Clearing the airways from mucus buildup is important in CF care.

In the last three years, half of Canadians who died of cystic fibrosis were under age 34.

"I never thought about retirement. Inever thought about those things because my whole life I was told you're never going to make it until you're 20, you're 30," said Murphy, who with wife Diane are parents to their year-old son Logan.

Three years ago, Murphy lost significant lung function andwas hospitalized for threeweeks at St. Michael's Hospital in Toronto. He hadbeen on and off intravenousantibiotics for months.

"On an average day, I'm doing about two to three hours of masks, and vests and physiotherapy, not including all the pills I take," he said.

"I'm 34 years old. If I can obtain this drug [Trikafta] and take it for the recommended period of time to get the results, it would be like me turning back the clock."

There's no cure for CF. While other therapies work to address the symptoms, Trikafta helps the defective protein function more effectively.

With Health Canada's approval, doctors can now prescribe Trikafta.

But aswith a couple of other drugs for CF, provincial insurance coverage for Trikaftaremains a concern for patients, Kelly Grover, president and chief executive officer of CFC, saidin a release.

"We turn to the provinces next. They must immediately fund Kalydeco and Orkambi, which have been in negotiations for more than a year, and fund Trikafta as soon as possible. Provincesend the wait and save lives."

The pan-Canadian Pharmaceutical Alliance (pCPA) isa regulatory body that negotiates drug prices on behalf of the provinces.

In astatement released shortly after Health Canada announcedapproval of Trikafta, thepCPAsaid it has agreed to negotiate prices for the CF drugsOrkambi and Kalydeco, and Trikafta might be added to the agreements, pending a positive regulatory and health technology assessment recommendation.

CBC reached out to the Ontario government for comment, and in an email, the Ministry of Health said the province "recognizes that the cystic fibrosis community is anxious for access to new and effective treatments such as Trikafta," and "will continue to work productively through the established review and pCPA processes."

In the meantime, Murphy and his wife have started a fundraiser, hoping to raise enough money so hecan eventually access the drug.

"If I can get a couple months, that's huge," he said.

His wife Diane, who'sactively involved with CFC, as well as a petition and Instagram groups calling for the Ontario government to fund Trikafta, encourages the public to send letters to the province.

Shehas hopes of her husband "watching our child grow up."

'Like turning back the clock': Windsor dad with cystic fibrosis among patients seeking access to new therapy -

Germline genetic testing can benefit all cancer patients as a routine practice in cancer care – PRNewswire

"Cancer is a disease of genetics, yet clinical practice has struggled to keep pace with rapid advancements in research, particularly with respect to the role of germline genetics. Testing guidelines and medical policy often codify barriers, further lengthening the path to adoption of widespread testing and in some cases restricting access to precision therapies and clinical treatment trials," said Ed Esplin, M.D., Ph.D., FACMG, FACP, clinical geneticist at Invitae. "Research presented at ASCO shows that cancer-linked genetic changes are common across cancer types and when patients do receive germline testing, over two thirds of those with positive results are eligible for changes to their treatment plans. It's clear that incorporating germline testing alongside tumor profiling can help oncologists better tailor treatment for each patient."

Data from 250 pancreatic cancer patients from the landmark INTERCEPT study conducted at the Mayo Clinic found that nearly one in six patients with pancreatic cancer (n=38) showed cancer-linked genetic changes and, importantly, receiving germline testing was associated with improved survival.

A separate study of prostate cancer patients confirmed similar findings in other cancer types that limiting testing deprives patients and clinicians of actionable information. In the first-ever presentation of the PROCLAIM study, which was conducted primarily in community urology clinics, of patients diagnosed with prostate cancer, a significant number of cancer-linked variants were missed if testing was done based on NCCN guidelines. Of the 532 patients with clinician-reported data, nearly half, 45% (n=239), did not meet NCCN criteria. Overall, 59 patients had a cancer-linked variant; one in 10 of them did not meet the criteria (9.6%, n=23), and 12.3% (n=36) of patients met the criteria. When a 12-gene panel was used, only 29 patients were found to have a cancer-linked variant and one third of these patients were missed by guidelines.

A third study showed simply changing medical policy is not enough to drive changes in clinician adoption. In a review of two independent datasets, including commercially insured and Medicare Advantage enrollees, only 3% (n=1,675) of the 55,595 colorectal cancer patients received germline genetic testing, despite medical policy recommending germline genetic testing for all colorectal cancer patients (consistent with the INTERCEPT colorectal cancer study). Of the patients who received testing, 18% (n=143) had a cancer-linked variant and two thirds, or 67% (n=96), of those patients were potentially eligible for precision therapy and/or clinical trials.

"The data have been available for years that show knowing what changes patients have in their genes is beneficial to treating their cancer. Yet the oncology community has been slower to adopt germline testing than tumor profiling, for reasons that are not entirely clear. These data presented at ASCO highlight the need for oncologists to embrace germline genetic testing as routine practice for all cancer patients," said Robert Nussbaum, M.D., chief medical officer at Invitae. "A positive germline genetic result may enable patients to enroll in clinical trials or gain access to new precision medicines. And equally important, the discovery of an inherited variant can alert relatives to seek out earlier cancer screening, helping avoid later-stage diagnoses and offering a treatment benefit if cancer develops."

Invitae aims to help overcome obstacles to the adoption of genetic testing by providing physicians with clinical consults to help interpret results and reducing cost as a barrier to genetic information. Invitae also provides patients direct access to genetic counselors, helping to integrate routine genetic testing into patient care with GIA, a HIPAA-compliant chatbot. Family members are also able to receive no-charge genetic testing if a positive result is found.

Details of the 2021 ASCO presentations:

Oral Abstract Session: Prevention, Risk Reduction, and Hereditary Cancer

Poster Discussion Session: Prevention, Risk Reduction, and Hereditary Cancer

Poster Session: Prevention, Risk Reduction, and Hereditary Cancer

Poster Session: Gastrointestinal Cancer--GastroesophageaI, Pancreatic, and Hepatobiliary

About Invitae Invitae Corporation(NYSE: NVTA) is a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website

Safe Harbor Statement This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the benefits of germline testing and genetic information; and that the data presented at ASCO highlight the need for increased germline testing in all cancer patients regardless of medical policy. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended March 31, 2021. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact: Laura D'Angelo [emailprotected] (628) 213-3283

SOURCE Invitae Corporation

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Germline genetic testing can benefit all cancer patients as a routine practice in cancer care - PRNewswire

Discovery of a new genetic cause of hearing loss illuminates how inner ear works – India Education Diary

A gene calledGAS2plays a key role in normal hearing, and its absence causes severe hearing loss, according to a study led by researchers in the Perelman School of Medicine at the University of Pennsylvania.

The researchers, whose findings arepublished online today inDevelopmental Cell, discovered that the protein encoded byGAS2is crucial for maintaining the structural stiffness of support cells in the inner ear that normally help amplify incoming sound waves. They showed that inner ear support cells lacking functionalGAS2lose their amplifier abilities, causing severe hearing impairment in mice. The researchers also identified people who haveGAS2mutations and severe hearing loss.

Anatomists 150 years ago took pains to draw these support cells with the details of their unique internal structures, but its only now, with this discovery aboutGAS2, that we understand the importance of those structures for normal hearing, said study senior authorDouglas J. Epstein, PhD, professor of genetics at Penn Medicine.

Two to three of every 1,000 children in the United States are born with hearing loss in one or both ears. About half of these cases are genetic. Although hearing aids and cochlear implants often can help, these devices seldom restore hearing to normal.

One of the main focuses of the Epstein laboratory at Penn Medicine is the study of genes that control the development and function of the inner eargenes that are often implicated in congenital hearing loss. The inner ear contains a complex, snail-shaped structure, the cochlea, that amplifies the vibrations from sound waves, transduces them into nerve signals, and sends those signals toward the auditory cortex of the brain.

Unraveling the role ofGas2in hearing

A few years ago, Epsteins team discovered thatGas2, the mouse version of humanGAS2, is switched on in embryos by another gene known to be critical for inner ear development. To determineGas2s role in that development, the team developed a line of mice in which the gene had been knocked out of the genome and called themGas2-knockout mice.

Alex Rohacek, PhD, a former graduate student in the Epstein lab, was puzzled to observe that theGas2-knockout mice had inner ears with cells and structures that seemed quite normal. However, the animals, when tested, turned out to be severely hearing-impaired, with deficits at high sound frequencies of up to 50 decibelsequivalent to a loss of 99.999 percent of the normal acoustic energy.

Tingfang Chen, PhD, a postdoctoral fellow and co-first author on the study, determined thatGas2is normally active within inner-ear support cells called pillar cells and Deiters cells. In these cells, the protein encoded by the gene binds to flexible, tube-like structures called microtubules in a way that bundles and stabilizes them, effectively stiffening the cells.

With help from the collaborating team ofBenjamin L. Prosser, PhD, assistant professor of Physiology at Penn Medicine and an expert on microtubules, the researchers discovered that when pillar cells and Deiters cells lackGas2, their microtubule bundles tend to come apart, dramatically reducing the stiffness of the cells.

That turns out to have dire implications for hearing. Within the inner ear, pillar cells and Dieters cells help form the basic structure of the cochlea and serve as physical supports for cells called outer hair cells. The outer hair cells move in response to incoming acoustical vibrationsessentially to provide a crucial amplification of that sound energy. The experiments revealed that the pillar and Deiters cells loss of stiffness, due to the absence ofGas2, severely degrades the sound-amplifying properties of the outer hair cells they support.

We observed that some of Deiters cells in theGas2-knockout mice even buckled under the tension of the rapid movements of the outer hair cells, Epstein said.

The experiments included sophisticated imaging of propagating sound waves in the inner ears of liveGas2-knockout and normal mice, conducted by collaboratorJohn Oghalai, MD, chair and professor of otolaryngology-head and neck surgery at the Keck School of Medicine of USC, and his team.

GAS2also causes human hearing loss

Curiously, the researchers could find no reports ofGAS2-associated congenital hearing loss in the medical literature. Even when they canvassed colleagues around the world who run hearing-loss clinics, they came up empty-handed.

Then one day,Hannie Kremer, PhD, professor and chair of molecular otogenetics at Radboud University Medical Center in the Netherlands, emailed Epstein. She and her team had been studying a Somalian family in which four of the siblings had severe hearing loss from early life. The affected family members had no mutations in known hearing-loss genesbut each carried two mutant copies ofGAS2.

The study therefore establishesGAS2as a very probable new hearing loss gene in humansthe first one known to affect the mechanical properties of inner ear support cells.

The prevalence of hearing loss in people due toGAS2mutations remains to be determined, but Epstein noted that this type of congenital hearing loss is nevertheless an attractive target for a future gene therapy.

In many genetic hearing loss conditions, the affected cells are permanently damaged or die, but in this one, the affected cells are intact and conceivably could be restored to normal or near-normal by restoringGAS2function, he said.

He added that such a gene therapy might be useful not only in more obvious cases of hearing loss in early childhood, but also in casesperhaps more numerousin which inherited mutations lead to a slower development of hearing loss in adulthood.

Funding was provided by the National Institutes of Health (R01 DC006254, R01 DC014450, R01 DC013774, R01 DC017741, R01 HL133080), the Boucai Innovation Fund in Auditory Genomics, the National Science Foundation (15-48571), and the Heinsius Houbolt Foundation.

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Discovery of a new genetic cause of hearing loss illuminates how inner ear works - India Education Diary

Seattle Cancer Care Alliance is an Authorized Treatment Center for Ide-cel CAR T-Cell Therapy –

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Cancer center among the first in the nation to offer the first approved CAR T-cell therapy for adults with multiple myeloma

SEATTLE--(BUSINESS WIRE)-- Seattle Cancer Care Alliance (SCCA), the only National Comprehensive Cancer Network designated cancer center in Washington State, today announced that it is an authorized treatment center for the new B-cell maturation antigen (BCMA) targeted chimeric antigen receptor (CAR) T-cell therapy, idecabtagene vicleucel, also known as ide-cel.

Ide-cel was approved by the U.S. Food and Drug Administration (FDA) on March 26, 2021, and is indicated for the treatment of adult patients with relapsed refractory multiple myeloma after four or more prior lines of therapy including a proteasome inhibitor, an immunomodulatory therapy and an anti-CD38 antibody. It is the first cell-based gene therapy approved by the FDA for the treatment of multiple myeloma and is being marketed under the brand name Abecma.

We are pleased to offer this new advanced therapy to patients who are suffering from relapsed or refractory multiple myeloma, said Nancy Davidson, MD, president and executive director of Seattle Cancer Care Alliance. We are committed to delivering personalized care to our patients and improving patient outcomes and excited to be among the first cancer centers in the nation to offer this treatment to adult patients with multiple myeloma.

Multiple myeloma is a cancer of plasma cells in which abnormal plasma cells build up in bone marrow and limit the bodys ability to make enough healthy blood cells, thus resulting in low blood counts. Multiple myeloma is also associated with bone and kidney damage as well as a weakened immune system. There are over 140,000 people in the United States living with this cancer and according the American Cancer Society approximately 34,920 new cases will be diagnosed in 2021, and 12,410 deaths among those with multiple myeloma will occur.

Ide-cel is a one-time therapy that is created from a patients own white blood cells, which have been modified to recognize and attack myeloma cells. As an anti-BCMA CAR T-cell therapy, ide-cel recognizes and binds to BCMA, a protein that is nearly universally expressed on cancer cells in multiple myeloma, leading to the death of BCMA-expressing cells.

In the clinical study that supported its approval, ide-cel was shown to be safe and effective. Approximately 72% of patients partially or completely responded to the treatment with 28% of patients showing complete response. An estimated 65% of this group remained in complete response to ide-cel for at least 12 months.

The FDA approval of this novel therapy is a significant milestone in the advancement of new, innovative therapies for multiple myeloma, said David Maloney, MD, PhD, medical director for cellular immunotherapy at the Bezos Family Immunotherapy Clinic at Seattle Cancer Care Alliance. We are excited about the continued expansion of CAR T-cell treatment options available to our patients, and the potential ide-cel offers to extend the lives of those who have multiple myeloma.

Our clinical trials at the SCCA have provided us with extensive experience using BCMA CAR T-cells for multiple myeloma. The new FDA approval allows our to leverage this knowledge and safely bring a promising therapy to a wider population of adult patients with multiple myeloma, said Damian Green, MD, Seattle Cancer Care Alliance and Associate Professor, and who leads translational myeloma research programs at Seattle Cancer Care Alliance and the Fred Hutchinson Cancer Research Center.

SCCA is home to several of the worlds leading immunotherapy experts whose research has contributed to the foundation of many immunotherapies currently used to treat cancer. SCCAs Bezos Family Immunotherapy Clinic, which opened in 2016, is a state-of-the-art center dedicated to offering the newest cellular immunotherapy clinical trials and FDA approved treatments.

About Seattle Cancer Care Alliance

Seattle Cancer Care Alliance brings together the leading research teams and cancer specialists from Fred Hutch, Seattle Childrens and UW Medicine one extraordinary group whose sole purpose is the pursuit of better, longer, richer lives for our patients. Based in Seattles South Lake Union neighborhood, Seattle Cancer Care Alliance has nine clinical care sites in the region, including a medical oncology clinic at EvergreenHealth in Kirkland; hematology/medical oncology and infusion services at Overlake Medical Center in Bellevue, medical and radiation oncology clinics at UW Medical Center - Northwest Seattle and medical oncology services at SCCA Issaquah, as well as Network affiliations with hospitals in five states. For more information about SCCA, visit

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Karina San Juan, or (206) 606-1926 Heather Platisha, or (206) 606-7239

Source: Seattle Cancer Care Alliance

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Seattle Cancer Care Alliance is an Authorized Treatment Center for Ide-cel CAR T-Cell Therapy -

Castle Biosciences Announces Pipeline Initiative to Develop Genomic Test Targeting Systemic Therapy Response in Patients with Psoriasis, Atopic…

FRIENDSWOOD, Texas--(BUSINESS WIRE)--Castle Biosciences, Inc. (Nasdaq: CSTL), a dermatologic diagnostics company providing personalized genomic information to improve cancer treatment decisions, today announced its innovative pipeline initiative to develop a genomic test aimed at predicting systemic therapy response in patients with moderate to severe psoriasis, atopic dermatitis and related conditions.

Castle Biosciences has designed, developed and validated multiple genomic tests, including three dermatologic genomic tests, all of which are currently commercially available. These tests are designed to provide information for clinicians and patients to make personalized treatment decisions along the patient care continuum, including pre-diagnosis and following diagnosis, based on the biology of each patients disease. With the Companys pipeline test for psoriasis, atopic dermatitis and related conditions, Castle expands its dermatology focus from cancer to include inflammatory skin disease. This pipeline initiative is expected to produce a genomic test that predicts systemic therapy response to guide therapy selection in patients with moderate to severe psoriasis, atopic dermatitis and related conditions.

We are in an industry-leading position, as the only diagnostic company with a suite of dermatologic gene expression profile tests, said Derek Maetzold, president and chief executive officer of Castle Biosciences. We have demonstrated our ability to successfully develop, validate and bring to market clinically actionable, innovative tests. We start by identifying dermatologic diseases with high unmet clinical need. We then use the gene expression profile of an individual patients biology in an effort to develop gene expression profile tests designed to assist clinicians and their patients by better informing treatment to optimize health outcomes and reduce health care costs.

We are excited to expand our pipeline beyond cancer to other dermatologic diseases that significantly impact patients lives and have unanswered clinical questions. We are working with several leading experts in inflammatory skin diseases to develop a test that can predict a patients response to therapy for patients with moderate to severe psoriasis, atopic dermatitis and related conditions. Our goal is to shift systemic therapy selection such that the appropriate therapy is selected the first time. This goal is clinically and economically important, as the burden of cost for todays therapies are front loaded, and a significant amount is incurred within the first three months of treatment. If our test is able to guide therapy selection, based on the patients own disease biology, we believe we can help direct therapy selection decisions to start patients on potentially the most effective treatment sooner, while reducing the likelihood of a patient discontinuing or switching therapies, possibly resulting in a better utilization of healthcare resources.

Based upon our development and validation timelines, we believe that we can launch this pipeline test by the end of 2025, utilizing our well-established dermatologic sales channels, adding approximately $1.9 billion to our current estimated U.S. total addressable market.

Castle has initiated a 4,800 patient, prospective, multi-center clinical study to develop and validate this pipeline test. We expect to recruit approximately 50 participating centers from across the U.S.

About Psoriasis, Atopic Dermatitis and Related Conditions

Inflammatory skin disease accounts for a significant number of patient visits to both primary care and dermatology clinics across the U.S. every year. Psoriasis and atopic dermatitis are among the most common inflammatory skin conditions, and patient quality of life is severely impacted by these chronic diseases. Fortunately, systemic medications developed over the past 15 years have demonstrated a significant improvement in patients lives. In the U.S. alone, there are about 18 million patients diagnosed with psoriasis and atopic dermatitis, and approximately 450,000 patients annually are eligible for these systemic therapies. While there are now many effective treatments options available for those with moderate to severe disease, current clinical practice relies on a trial-and-error approach for therapy selection. To answer this unmet clinical need, Castle Biosciences is developing a gene expression profile test to predict response to systemic therapies for patients with moderate to severe psoriasis, atopic dermatitis and other related diseases. Personalized guidance for therapy selection and anticipated efficacy has the potential to improve patient health outcomes by enabling clinicians to select the best medication for their patients specific skin disease.

About Castle Biosciences

Castle Biosciences (Nasdaq: CSTL) is a commercial-stage dermatologic diagnostics company focused on providing physicians and their patients with personalized, clinically actionable genomic information to make more accurate treatment decisions. The Company currently offers tests for patients with cutaneous melanoma (DecisionDx-Melanoma, DecisionDx-CMSeq), cutaneous squamous cell carcinoma (DecisionDx-SCC), suspicious pigmented lesions (DecisionDx DiffDx-Melanoma) and uveal melanoma (DecisionDx-UM, DecisionDx-PRAME and DecisionDx-UMSeq). For more information about Castles gene expression profile tests, visit Castle also has active research and development programs for tests in other dermatologic diseases with high clinical need, including its test in development to predict systemic therapy response in patients with moderate to severe psoriasis, atopic dermatitis and related conditions. Castle Biosciences is based in Friendswood, Texas (Houston), and has laboratory operations in Phoenix, Arizona. For more information, visit

DecisionDx-Melanoma, DecisionDx-CMSeq, DecisionDx-SCC, DecisionDx DiffDx-Melanoma, DecisionDx-UM, DecisionDx-PRAME and DecisionDx-UMSeq are trademarks of Castle Biosciences, Inc.

Forward-Looking Statements

The information in this press release contains forward-looking statements and information within the meaning of Section 27A of the Securities Act of 1933, as amended, and Section 21E of the Securities Exchange Act of 1934, as amended, which are subject to the safe harbor created by those sections. These forward-looking statements include, but are not limited to, statements concerning the potential success of our pipeline initiative; potential improvements in patient treatment, optimized health outcomes and reduced healthcare costs attributable to any test developed by our pipeline initiative; anticipated timing for launch of our pipeline test; and the potential increase in our estimated U.S. total addressable market. The words anticipates, believes, estimates, expects, intends, may, plans, projects, will, would and similar expressions are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. We may not actually achieve the plans, intentions, or expectations disclosed in our forward-looking statements and you should not place undue reliance on our forward-looking statements. Actual results or events could differ materially from the plans, intentions and expectations disclosed in the forward-looking statements that we make. These forward-looking statements involve risks and uncertainties that could cause our actual results to differ materially from those in the forward-looking statements, including, without limitation, changes in need and market opportunity for any tests developed through this pipeline initiative may impact our estimated total U.S. market opportunity, delays in clinical studies may delay our ability to launch our pipeline test, our pipeline test may not be as effective as anticipated, the effects of the COVID-19 pandemic on our business and our efforts to address its impact on our business, changes in the competitive landscape and introduction of competitive products, subsequent study results and findings that contradict earlier study results and findings, the level and availability of reimbursement for our products, our ability to manage our anticipated growth and the risks set forth in our Annual Report on Form 10-K for the year ended December 31, 2019, and in our other filings with the SEC. The forward-looking statements are applicable only as of the date on which they are made, and we do not assume any obligation to update any forward-looking statements, except as may be required by law.

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Castle Biosciences Announces Pipeline Initiative to Develop Genomic Test Targeting Systemic Therapy Response in Patients with Psoriasis, Atopic...

Global Thalassemia Treatment Market is estimated to be US$ 14.7 billion by 2030 with a CAGR – GlobeNewswire

Covina, CA, April 30, 2021 (GLOBE NEWSWIRE) -- The Global Thalassemia Treatment Market accounted for US$ 2.3 billion in 2020 and is estimated to be US$ 14.7 billion by 2030 and is anticipated to register a CAGR of 10.40%.Thalassemia is an inherited blood disorder characterized by decreased hemoglobin production. Symptoms range from mild to severe anemia which can result in tiredness and pale skin with bone problems, an enlarged spleen, yellowish skin, and dark urine. There are two main types, alpha thalassemia and beta thalassemia. Further, severity of alpha and beta thalassemia depends on the absence of four genes for alpha globin or two genes for beta globin. Diagnosis is typically by blood test including complete blood count, special hemoglobin test and genetic tests.

The report "Global Thalassemia Treatment Market, By Type (Alpha-Thalassemia and Beta-Thalassemia), By Treatment (Blood Transfusions, Iron Chelation Therapy, Folic Acid Supplements, Gene Therapy and Bone Marrow Transplant), By End-User (Hospitals & Clinics, Diagnostic Laboratories and Others), and By Region (North America, Europe, Asia Pacific, Latin America, and Middle East & Africa) - Market Trends, Analysis, and Forecast till 2030"

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Key Highlights:

Analyst View:

Increasing incidence of thalassemia drives the overall market. Increasing pipeline drugs in thalassemia and rising awareness regarding the available treatment options also drivers the market. The rise in demand for improved curative gene therapy also boost the market of Thalassemia treatment.

Browse 60 market data tables* and 35figures* through 140 slides and in-depth TOC on Global Thalassemia Treatment Market, By Type (Alpha-Thalassemia and Beta-Thalassemia), By Treatment (Blood Transfusions, Iron Chelation Therapy, Folic Acid Supplements, Gene Therapy and Bone Marrow Transplant), By End-User (Hospitals & Clinics, Diagnostic Laboratories and Others), and By Region (North America, Europe, Asia Pacific, Latin America, and Middle East & Africa) - Market Trends, Analysis, and Forecast till 2030

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Key Market Insights from the report:

The Global Thalassemia Treatment Market accounted for US$ 2.3 billion in 2020 and is estimated to be US$ 14.7 billion by 2030 and is anticipated to register a CAGR of 10.40%.The Global Thalassemia Treatment Market is segmented based on thetype, treatment, end-user and region.

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Competitive Landscape:

The key players operating in the Global Thalassemia Treatment Market include Novartis AG (Switzerland), Bluebird Bio, Inc. (US), Kiadis Pharma (Netherlands), CELGENE CORPORATION (US), Sangamo Therapeutics (US), Acceleron Pharma, Inc. (US), Gamida Cell (Israel).

The market provides detailed information regarding the industrial base, productivity, strengths, manufacturers, and recent trends which will help companies enlarge the businesses and promote financial growth. Furthermore, the report exhibits dynamic factors including segments, sub-segments, regional marketplaces, competition, dominant key players, and market forecasts. In addition, the market includes recent collaborations, mergers, acquisitions, and partnerships along with regulatory frameworks across different regions impacting the market trajectory. Recent technological advances and innovations influencing the global market are included in the report.

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Global Thalassemia Treatment Market is estimated to be US$ 14.7 billion by 2030 with a CAGR - GlobeNewswire

Cell and Gene Therapy Market Opportunities, Recent Industry Size and Share Analysis With Forecast To 2027 | Dendreon, Vericel, Spark Therapeutics,…

Gene and cell therapy use genes and cells for the treatment of genetic diseases. Genetic diseases are caused by mutations or errors in genes that can be passed down from one generation to another.Cell therapy aims to treat diseases by introducing cells into a patients body or by using cells to carry a therapy through the body. Cells are cultured or altered outside the patients body before being injected into the patient.

A new market report by The Insight Partners on the Cell and Gene Therapy Market has been released with reliable information and accurate forecasts for a better understanding of the current and future market scenarios. The report offers an in-depth analysis of the global market, including qualitative and quantitative insights, historical data, and estimated projections about the market size and share in the forecast period. The forecasts mentioned in the report have been acquired by using proven research assumptions and methodologies. Hence, this research study serves as an important depository of the information for every market landscape. The report is segmented on the basis of types, end-users, applications, and regional markets.

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The cell and gene therapy market is segmented on the basis of type, application, and end-users. On the basis of type, the market is segmented into cell therapy and gene therapy. On the basis of application, the market is segmented as oncology, dermatology, musculoskeletal, genetic disorders, and others. On the basis of end users, the market is segmented as hospitals and clinics, and others.

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Scope of Cell and Gene Therapy Market:

The Cell and gene therapy market analysis to 2027 is a specialized and in-depth study of the healthcare industry with a special focus on the global market trend analysis. The report aims to provide an overview of the cell and gene therapy market with detailed market segmentation by type, application, and end-users. The cell and gene therapy market is expected to witness high growth during the forecast period. The report provides key statistics on the market status of the leading players in the cell and gene therapy market and offers key trends and opportunities in the market.

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Cell and Gene Therapy Market Opportunities, Recent Industry Size and Share Analysis With Forecast To 2027 | Dendreon, Vericel, Spark Therapeutics,...

Searching for the Causes and Cures of Spinocerebellar Ataxias – University of Utah Health Care

Dr. Clardy: Hi, I'm Stacey Clardy, Associate Professor of Neurology at the University of Utah. I'm excited today to talk with Stefan Pulst for our series on where cures for brain diseases begin.

Stefan is the Chair of Neurology here at the University of Utah and has accomplished a tremendous amount in that role. But today I want to focus our discussion on his role as a very successful researcher in neurodegenerative diseases.

Specifically, Stefan, you are quite well known internationally for your work on a group of conditions called spinocerebellar ataxias. How did you find yourself focusing on this group of diseases? They are rare diseases. Did you seek out that area based on a lecture you heard early in your career or a patient you had seen? Was there some sort of existing project? How did you settle on the spinocerebellar ataxias for your particular research questions?

Dr. Pulst: Well, it was a typical L.A. story. I was Chair of Neurology at Cedars-Sinai at that time, and I got a phone call, a phone call from a colleague at UCLA, who recalled that, as a resident at Columbia University, he had seen a family that had a very unique distribution of age of onset of a particular neurodegenerative disease. It appeared to happen earlier and earlier in each subsequent generation.

And it's hard to believe today, but in the late '80s, I was one of the few neurology geneticists in Los Angeles. So that's why he called me. And I said to him, "I've never seen a genetic disease that I don't like," and we decided to fly out to New York State and examine that family, obtain DNA samples. And then my search began to find the actual mutated gene that caused this disease that we now call SCA2 or spinocerebellar ataxia type 2.

Dr. Clardy: And this is sort of unique and really, I think, drives home the point of the value of a clinician scientist, right, because you're both a scientist but also were able to come see the patients. You're a physician. You're able to examine them and get a sense of what was different about this, highlighting, I think, what's unique about academic medicine is that you serve in both those roles. And, of course, that was pre-Zoom era, so you had to fly out there.

Dr. Pulst: We had to fly out there. And we learned a lot from the patients. Part of cerebellar disease is that you are uncoordinated in your gait. And so one of our measures was to ask people to basically walk a line, like a police officer would do when they pull you over. And we had one young woman who we asked to come back and do the test again. And she was very concerned that she might actually have inherited the disease. And we later found out that she did. She was just a bit clumsier than some of her other family members. So when one learns a lot, and I think that, you know, I've been in this business now for 40 years, what I enjoy about it, going back and forth between lab and the patient and then back from the patient back to the lab, asking the questions.

Dr. Clardy: And you just hinted at what I was going to ask you next, which is how long have you been studying this condition? I think we somehow read a news release about an exciting research finding and we think that it happened in the last six months. So tell us when you started. How long has it really been?

Dr. Pulst: So we flew out to Syracuse, New York, in the late '80s and collected DNA samples. And then, for the next six years, we tried to identify this gene. And although this can be much faster today, this was a time where the genome was not mapped. We made different kinds of maps, maps based on distance and on location. And finally, in March 1996, we identified the disease gene that is now called ATXN2. All the ataxia-causing genes have numbers now. And we found out that it was a very unusual mutation, actually a mutation that was dynamic. It did not remain stable, and in the end that explained this phenomenon of having earlier and earlier disease onset in subsequent generations.

Dr. Clardy: And so what I heard you say was it took a long time to find the mutation. So what have you been doing on that mutation in that ensuing 25 years? Right? You get to discover what the problem is, and then what's next?

Dr. Pulst: Yes, and quite right. We thought climbing the Everest was finding the gene. That there was a lot of glory to be had to find the gene, and then somehow the therapy would just fall into our lab. And now we just know that we were in the hills leading up to Everest. Everest was really finding therapies. And for really a decade, maybe even two decades we and others spent our time trying to understand what this disease gene actually normally does, assuming that, when it's mutated, it has something like a deranged normal function.

And really, for me, the change came with moving to Utah in 2007. We decided to completely refocus and target the mutated gene itself. After all, that's the first cause, the primary reason why patients develop this particular disease, a DNA change happens. And we thought, if we can somehow quiet this disease gene down, then we would have a path forward. And that's what we have been doing since 2007. And you're quite right, that is still 13 or 14 years ago, and it has taken us that long to develop a gene-directed therapy.

Dr. Clardy: Wow, that's incredible. And I want to back up a little bit before we get to talking about the therapy that you're working on. The mutation you found, tell us more about this class of conditions, the spinocerebellar ataxias. What do all the patients look like? Are they similar? Are they different? How many different types are there?

Dr. Pulst: Yes. So the patients with ataxia share a certain presentation. Most of them present with gait instability that then progresses to affecting their speech, their reaching movements, their stance, their eye movements, and sometimes also their thinking. So these are really neurodegenerative diseases. They share some features with other diseases, such as Huntington's disease, but also with diseases like Lou Gehrig's disease or motor neurone disease. So they really fall into the larger group of neurodegenerative diseases.

We have about 50 SCAs, spinocerebellar ataxia, so at least 50 genes or gene locations that cause dominantly-inherited ataxias. These diseases are called polyglutamine diseases because a repeat that normally codes for the amino acid glutamine, it now expands and causes very large stretches of glutamine that misshape the protein, misform it. It tends to aggregate and cause disease.

Dr. Clardy: So unlike some other neurologic diseases that are caused by, say, missing a piece of a chromosome or a deletion, in these spinocerebellar ataxias, most of them, it's really all the DNA is there, but there's extra and it's repeated. Is that right?

Dr. Pulst: That is correct. It's repeated and it's repeated in a part of the gene that directly codes for a protein, so it has a direct effect on the way this protein is formed, the way it behaves. And as we now know, these repeat expansions cause the proteins to aggregate and really cause havoc in the cell.

Dr. Clardy: And I think what you're not saying is that a lot of this was not known. And certainly 50 different types were not known when you started this area of research. And you're saying that family had SCA number what?

Dr. Pulst: Number 2.

Dr. Clardy: Wow, so early on.

Dr. Pulst: Yeah, actually, in Utah, we are working on finding the mutation for a disease that is very common in Utah. It's called SCA4. So it was mapped to a chromosome a long time ago, but it has been very difficult to find the actual mutation causing that disease.

Dr. Clardy: So SCA4, the fourth spinocerebellar ataxia to be discovered is actually common in Utah. I didn't know that. Can you tell me more?

Dr. Pulst: Yes. So this disease was originally described and mapped to chromosome 16 by a former faculty member here at the University of Utah, Dr. Kevin Flanigan. And when we came, we took this off and we realized it is a family, a gigantic family, with more than 1,000 members actually. And we traced them back. The individuals were early pioneers. Actually we know that they were born in the 19th century, came from Scandinavia to Utah. And it's a disease with late onset, so people have a normal number of children. And we have now mapped the disease more precisely to chromosome 16.

What we have also found out, that other families, that we became aware of, there's a smaller family in the U.S. state of Georgia, and we were able to map them genetically but also by family records back to southern Sweden. And we actually found out that the family in Georgia and the family here in Utah come from two villages in southern Sweden that are about 10 miles apart. And there appears to be even a link between them, a man who was an oiler, he oiled machines and he may have had relationships in these two villages.

Again, it's a neurodegenerative disease that affects mainly the cerebellum, so patients have uncoordinated gait. But, interestingly, it has other effects as well. They develop a very significant sensory neuropathy. So what that means is they cannot quite sense where their toes and ankle and their fingers are. So they really have to deal with double damage. Both the feedback from the joints is not correct, and then the part of the brain that should coordinate all this information, the cerebellum is also defective. We are now pretty certain that it's not a simple mutation. It is likely a complex rearrangement on chromosome 16 that has made it difficult to pinpoint down what the precise mutation is.

Dr. Clardy: Wow. So just one of the other . . . I know we only touched on a couple areas of research in your lab, but this is obviously another one. And I love so much of what was in that story. One, the power of genetics, that we can trace back history now. But, two, I think you and I talk about this frequently, both being sort of transplants who came here to work at the University of Utah, but just the power of the recordkeeping and the ancestral records and the Utah population database, how the original settlers continue to give us information to push the science forward. It's such a fun part of working here in Utah.

Dr. Pulst: Yeah. And to give our listeners a bit of a visual image, usually, when you draw a family tree, a pedigree, you know, it fits on a sheet of paper quite easily. In this SCA4 family, we have like a papyrus scroll because it is so enormous. And actually, when we unroll it, it goes across my office. It's quite remarkable. And it was really thanks to one particular patient who contacted family members and made this pedigree. And it extends from Idaho and Wyoming all the way to Arizona through Utah and to California.

Dr. Clardy: That's fantastic. And we have so many of those patients here who are really driving their own science. It's wonderful, right?

Dr. Pulst: Yes, it's great. And the family is very involved, and we owe it to them to find the genes. So we are trying to work as hard as we can on using some of the most modern gene-sequencing technologies. And at this point, as of today, we have not found the mutation. So we still need to examine more patients and hopefully narrow also the location on chromosome 16 even further.

Dr. Clardy: Wow. So a lot of areas of research going on in your lab. I want to switch back a little bit though. You started to allude to this. Your lab has developed what's called an antisense oligonucleotide as a therapy, potentially, for one of these types of spinocerebellar ataxia. And, as I understand it, this has actually also led into a potential treatment for Lou Gehrig's disease or amyotrophic lateral sclerosis. But can you tell us what is an antisense oligonucleotide and how might it work in this disease?

Dr. Pulst: So this goes back to the refocus on targeting the actual cause of the disease, the primary cause. And that's the faulty gene that then leads to a faulty molecule that we call "messenger RNA." It's a molecule that takes the message of how to make proteins from the nucleus into the cell body, into the cytoplasm, and then specifies how a protein is made.

So, as I said, there's an expansion of a DNA repeat, which means the mRNA, the messenger RNA is expanded and the protein has an expanded polyglutamine domain. So we thought, "Why don't we try to attack the faulty messenger RNA and make a molecule that is complementary to this messenger RNA, it binds to it?" And then, what the cell does is actually, when it sees a new molecule made out of a messenger RNA and a piece of DNA, it actually targets this new artificial molecule and destroys it. And that's really the basis of these antisense oligonucleotides. They're called antisense because they are complementary antisense to the messenger RNA. And the oligonucleotide just means they have between 18 and 22 base pairs, so they're much shorter than a long messenger RNA.

And then, when this happens, an enzyme comes in, chops up the messenger RNA, so it's not present anymore. The antisense oligonucleotide is released and can undergo another round of binding to messenger RNA. So, with modifications, these new molecules are very stable and can be effective for therapy.

Dr. Clardy: And if I'm understanding what you're explaining correctly about this mRNA approach, this could really potentially be used in people who are known to have inherited the mutation but aren't yet having symptoms. Is that right?

Dr. Pulst: Yes. Yes, that's actually our hope for genetic disease to target diseases as early as we can. It just makes the point for our listeners that it's important to ask your neurologist to really get to the basis of a disease, to get to the correct name of the disease. And sometimes that means being referred to a specialist who really lives with these diseases and knows a lot about them.

Dr. Clardy: You make a really great point there, which is it's one thing to treat the symptoms, but perhaps the strength of the University of Utah or other academic medical centers too is that while we're treating the symptoms, while we're addressing where the patient's at, we also want to know what caused it in the first place. And your lab is, obviously, one of the extreme examples of that where you've actually found the mutation. So what phase of trial or study is this antisense oligonucleotide in right now?

Dr. Pulst: Okay, let me step one step back because it's important to realize, when I said that these ataxia sometimes are really neurodegenerative diseases that affect other nerve cells as well, and we recognized, just by seeing patients, that some of them had characteristics of Lou Gehrig's disease or amyotrophic lateral sclerosis. So, clinically, we saw that there appeared to be a connection between SCA2 and ALS. A colleague and friend of mine at Stanford, Dr. Gitler, then discovered molecularly a link between SCA2 and ALS.

So when we drove the development of this antisense oligonucleotide to ATXN2 forward, we partnered with a pharmaceutical company called Ionis and developed this initially in mouse models of ataxia but also in mouse models of ALS. And this molecule, the best one we identified in mouse studies and in studies in non-human primates, has now gone into a Phase I trial in ALS patients. And the reason it's in ALS patients, this is a more dramatic disease, very often, unfortunately, leading to death in three to five years, in some patients even earlier. And there are more ALS patients than SCA2 patients. So the dose finding study, knowing how much of this ASO to inject, is done in ALS patients. And a few patients have been injected so far with this new compound.

Dr. Clardy: It is very exciting, and it is really . . . you know, the neurodegenerative diseases are sort of the last frontier in neurology, right? They have, historically, hit a wall when it came to trials. And it sounds like your work and obviously the work done in other conditions and using antisense oligonucleotides is really the most exciting thing to come around in our entire generation.

Dr. Pulst: I agree. I think it's remarkable that really this dream of finding the genetic causes of disease actually now is leading to therapy. And I think another point is that even if you work on rare diseases or very rare diseases, if you pursue it, you may obtain insights into more common neurodegenerative diseases, as this connection between ALS and spinocerebellar ataxia type 2 shows.

Dr. Clardy: Well, I know certainly when I see patients in our shared clinics who have a neurodegenerative disease, I really love telling them that, just down the hall, you're doing work on this and you're making progress. But I want to know what advice do you have for patients who are diagnosed with neurodegenerative diseases?

Dr. Pulst: I think the first line of advice is try to really find out what your neurodegenerative disease is. Does it have a name? Does it have a genetic cause? And that often requires to go to specialists or sometimes, as I call them, sub-specialists or sub-sub-specialists who really know about the disease. It is still true that there are actually very few ataxia specialists in the nation. And patients fly to Utah as they do to other ataxia centers to find the right diagnosis.

Genetic testing these days is less expensive than getting an imaging study. And insurance companies are slowly learning that it's the right way to go and to support these tests.

The other general piece of advice is be part of clinical trials. I think we know that patients do better when they're in clinical trials, even if they just "get the placebo." So you get to see specialists. You get followed up. People take great care of you. So I think that's the other one.

Dr. Clardy: Well, thank you, Stefan. Again, I've been speaking with Stefan Pulst, our Chair of Neurology here at the University of Utah, on his groundbreaking work on spinocerebellar ataxia and the possible translation over to amyotrophic lateral sclerosis as well. To learn more about his research, to support the lab, or any of the many, many research projects and labs here at the University of Utah, you can just go ahead and google "University of Utah neurology" where you'll find links about all of the ongoing departmental activities and information on how you can become involved.

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Searching for the Causes and Cures of Spinocerebellar Ataxias - University of Utah Health Care

Global Negative Pressure Wound Therapy Market In-deep Analysis And Experts Review Report 2021-2024 Clark County Blog – Clark County Blog

Covid-19 Update Report: A report titled Global Negative Pressure Wound Therapy Market 2020 Analysis, Size, Share, Growth, Trends, and Forecasts, using a variety of methodologies from 2021 to 2025 to analyze and present detailed and accurate data on the global Negative Pressure Wound Therapy market. The report is divided into various well-defined sections to provide the reader with a simple and easy-to-understand information document. In addition, each section details all the data needed to gain knowledge about the market before entering the market or strengthening your current foothold.

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Acelity (KCI) Smith & Nephew Cardinal Health Devon Medela Triage Meditech WuHan VSD Talley Group

Regional Analysis

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This report segmented into 13 segments are as follows:

Segments 1 and 2: Market definitions, Negative Pressure Wound Therapy market scope, classifications, applications, market concentration, and market size calculations are analyzed in this segment. In addition, the market presence across different regions and market statistics for these regions will be assessed from 2015 to 2019. Negative Pressure Wound Therapy Production and growth rates are analyzed in each region. It also provides comprehensive coverage of industry policies and plans, market drivers, constraints, and the latest industry news.

Segments 3 and 4: Negative Pressure Wound Therapy Industrial Chain Structure, Production Volume, Raw Material Costs, Manufacturing Costs, Market Leading Negative Pressure Wound Therapy Players, Supplier, and Buyers are investigated. Negative Pressure Wound Therapy Market classifications by type include growth rate, price analysis, value and quantity analysis, and market share.

Segments 5 and 6: This segment evaluates consumption and market share based on Negative Pressure Wound Therapy applications. This segment also surveys region-based Negative Pressure Wound Therapy production and gross margins.

Segments 7 and 8: Under this segment, top players competitive landscape views, company profile, market position, production volume, and regional analysis will be studied.

Segments 9 and 10: This segment provides forecast Negative Pressure Wound Therapy information based on market value and volume. It also provides regional forecasts for North America, Europe, China, Japan, the Middle East, India, and South America from 2020 to 2025

Segments 11, 12, and 13: This segment provides feasibility analysis, industry barriers, investment opportunities, and valuable conclusions. In addition, detailed survey methods and data sources are provided in this survey report.

Therefore, comprehensive studies based on Negative Pressure Wound Therapy, key segments, growth trends, revenue and volume forecasts, and market size estimates are shown in this report.

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Global Negative Pressure Wound Therapy Market In-deep Analysis And Experts Review Report 2021-2024 Clark County Blog - Clark County Blog