Stem Cell-Based Therapy: A Ray of Hope for Advanced Heart Failure Patients – Medriva

By Stem Cell Medicine

In a groundbreaking multinational clinical trial led by Mayo Clinic researchers and international collaborators, it was discovered that stem cell-based therapy significantly improved the quality of life for patients suffering from advanced heart failure. The study, one of the largest of its kind, involved 315 patients from 10 countries and revealed lower death and hospitalization rates among those treated with cell therapy. The research, funded by the Marriott Family Foundation and National Institutes of Health, was published in Stem Cells Translational Medicine.

The study demonstrated that patients who received stem cell therapy experienced a lessened daily hardship and a sustained benefit on both physical and emotional health. This promising form of biotherapy involves extracting stem cells from the patients own bone marrow and programming them to heal damaged heart tissue.

This trial stands out in the field of regenerative medicine, showcasing the potential of stem cell-based therapy in improving the quality of life for patients with advanced heart failure. The reduced daily hardship reported by patients, as well as the lower death and hospitalization rates, indicate the effectiveness of this therapy. Moreover, the sustained benefits on physical and emotional health emphasize the potential of biotherapy in the management of advanced heart disease.

The clinical trial was conducted in a double-blinded fashion, involving 315 patients from 39 hospitals across 10 countries. The results showed a significant improvement in the patients who received stem cell therapy, with lower death and hospitalization rates. The research was one of the largest studies of cell intervention after a heart attack, and patients reported a lessening of their daily hardship when stem cells optimized for heart repair were added to the standard of care.

The Mayo Clinic has long been at the forefront of regenerative medicine, seeking to harness the power of cells, tissue, and genes to provide first-of-their-kind therapeutics for patients in early-stage clinical trials. In other studies, Mayo Clinic researchers have demonstrated a nearly 20% increase in human papillomavirus (HPV) vaccination rates among adolescents through a combination intervention approach.

While the results of this clinical trial are promising, further independent clinical studies are needed to validate the findings and better understand the potential of stem cell-based therapy in treating advanced heart failure. As advancements in this field continue to emerge, the hope for patients suffering from heart diseases grows stronger.

See the rest here:
Stem Cell-Based Therapy: A Ray of Hope for Advanced Heart Failure Patients - Medriva

Mayo Clinic researchers say stem cell therapy improves quality of life for patients with advanced heart failure – KIMT 3

By Stem Cell Medicine

ROCHESTER, Minn. A multinational clinical trial involving Mayo Clinic researchers has found stem cell-based therapy improved quality of life for patients with advanced heart failure.

In the study, patients reported their daily hardship lessened when stem cells optimized for heart repair supplemented the standard of care, and the study further documented lower death and hospitalization rates among those treated with cell therapy.

"In this era of global aging, people live longer, yet are at risk of chronic disease imposing a poor quality of life. Heart failure is an emerging epidemic in need of new healing options," says Andre Terzic, M.D., Ph.D., a Mayo Clinic cardiovascular researcher and lead author of the paper. "The stem cell-based approach in the present study demonstrates sustained benefit on physical and emotional health in response to biotherapy."

Dr. Terzic is the Marriott Family Director, Comprehensive Cardiac Regenerative Medicine for the Center for Regenerative Biotherapeutics.

Approximately 800,000 people in the U.S. suffer heart attacks every year.

The study team recruited 315 patients from 39 hospitals in 10 countries who had advanced heart failure despite receiving standard of care. Mayo Clinic says patients were randomly divided into groups that would receive stem cell therapy versus those who would not. Patients assigned to cell treatment underwent cardiac catheterization. Then, stem cells taken from their own bone marrow and programmed to heal damaged heart tissue were delivered to the heart. Patients assigned not to receive stem cells had cardiac catheterization without cell delivery known as the sham treatment.

"Data from one of the largest cardiovascular cell therapy trials, testing a regenerative technology discovered at Mayo Clinic, indicate benefit in both quantity and quality of life in advanced heart disease," saysSatsuki Yamada, M.D., Ph.D., a Mayo Clinic cardiovascular researcher, and first author on the study. "The benefit of regenerative care has been typically evaluated on the basis of clinician-reported outcomes. What's unique in this study is that it was designed to listen to the patient's experience."

This research is published in Stem Cells Translational Medicine.

Link:
Mayo Clinic researchers say stem cell therapy improves quality of life for patients with advanced heart failure - KIMT 3

Type 1 Diabetes Treatment Breakthrough with Stem Cells | Health News – Medriva

By Stem Cell Medicine

In a significant breakthrough for type 1 diabetes treatment, a new experimental device housing millions of stem cells has demonstrated promising results in reducing the need for insulin shots. This development could potentially revolutionize the management of type 1 diabetes and pave the way for advanced treatment options. However, a more comprehensive body of research and clinical trials are still required to confirm the effectiveness of this approach.

An experimental device containing millions of stem cells was tested on ten people with type 1 diabetes, a condition in which the immune system destroys insulin-making cells in the pancreas. After six months, three of the patients showed significant improvement. The device, developed by the biotech company ViaCyte, delivers a steady supply of insulin to the body, presenting hope for a potential cure for type 1 diabetes by 2024. While the trial has its limitations and failed to normalize blood glucose levels, it offers a promising start for cell replacement therapies for type 1 diabetes.

Cellular regenerative medicine approaches, particularly those involving the use of CRISPR/Cas-engineered cellular products, have been explored as potential therapies for type 1 diabetes. However, the use of CRISPR/Cas as a genome editing tool for the treatment of type 1 diabetes is not without its drawbacks and potential hidden threats.

Leading institutions around the world are accelerating their research efforts to develop new treatments for type 1 diabetes. One such initiative is the University of Oxfords RDM group, which was awarded 2.55 million for a diabetes research project as part of the Type 1 Diabetes Grand Challenge. Led by Professor David Hodson, the project aims to study insulin-boosting molecules on beta cells. These molecules could potentially be used to create better lab-grown beta cells, protect transplanted beta cells, or even stimulate the growth of new beta cells. This research is part of a larger 50 million pledge from the Steve Morgan Foundation to expedite research for new treatments for type 1 diabetes.

Recent studies have highlighted the potential of human pluripotent stem cells as an unlimited resource for generating functional cells, including pancreatic cells, for type 1 diabetes treatment. One such study focused on the role of circular RNA circRNA hsa_circ_0032449 in pancreatic specification and the differentiation of stem cells into functional cells. The deficiency of hsa_circ_0032449 resulted in a weakened progenitor state of pancreatic cells and inhibited the development of mature and glucose-responsive SC cells.

With these groundbreaking advancements in stem cell therapies, there is renewed hope for millions of people worldwide living with type 1 diabetes. However, medical researchers and healthcare professionals agree that extensive further research and clinical trials are vital to fully validate the effectiveness of these approaches.

The rest is here:
Type 1 Diabetes Treatment Breakthrough with Stem Cells | Health News - Medriva

The First Crispr Medicine Is Now Approved in the US – WIRED

By Stem Cell Medicine

This is a terrible disease, says Samarth Kulkarni, president and CEO of Crispr Therapeutics. Every day feels like a big burden. Patients have this constant specter of mortality hanging over them.

The culprit is abnormal hemoglobin, the protein that carries oxygen through the body. The problem arises from a mutation in the HBB gene. Everyone has two copies of the geneone from each parent. Children born with sickle cell disease inherit a copy of the mutated gene from both parents.

Casgevy uses the Nobel Prizewinning technology Crispr to modify patients cells so that they produce healthy hemoglobin instead. The Crispr system has two parts: a protein that cuts genetic material and a guide molecule that tells it where in the genome to make the cut.

To do this, a patients stem cells are taken out of their bone marrow and edited in a laboratory. Scientists make a single cut in a different gene, called BCL11A, to turn on the production of a fetal form of hemoglobin that typically shuts off shortly after birth. This fetal version compensates for the abnormal adult hemoglobin. The edited cells are then infused back into the patients bloodstream.

A total of 45 patients have received Casgevy in a clinical trial. Of the 31 patients followed for two years, 29 have been free of pain crises for at least a year after receiving a single dose of their own edited cells.

Until now, the only cure for sickle cell has been a stem cell transplant from a closely related donor, but this option is available to only a small fraction of people. Transplants can also involve life-threatening risks and dont always work.

The first commercial patients to get Casgevy likely wont be treated until early next year. It takes a few weeks to collect patients cells, edit them, and perform quality control checks before the cells are ready for infusion. It takes a little bit of time to treat the patients, Kulkarni says. But we dont want to waste any timeand patients dont want to waste any time, because theyve been waiting for this for a while.

Today, the FDA also approved a second type of gene treatment for sickle cell, called Lyfgenia. This therapy does not use Crispr to cut the genome but instead adds a therapeutic gene to cells so they can produce healthy hemoglobin. Made by Bluebird Bio of Somerville, Massachusetts, it also involves modifying patients cells outside the body. In a two-year trial, pain crises were eliminated in 28 out of 32 patients between six and 18 months after treatment with Lyfgenia.

The FDA has put a black box warning on Lyfgeniaan indication of severe safety riskssince some patients who were treated with it have developed blood cancer. The agency says patients receiving it should be monitored for the rest of their lives.

Alexis Thompson, chief of the division of hematology at Childrens Hospital of Philadelphia, says these new gene therapies will be transformative for patients. I can now talk to parents about the possibility of their child perhaps being cured of sickle cell, she says A few years ago, I wouldn't dare have that conversation with a family.

See the article here:
The First Crispr Medicine Is Now Approved in the US - WIRED

Exciting Clinical Trials of New Stem Cell Injection Treatment Shows Promise for Halting Multiple Sclerosis – Good News Network

By Stem Cell Medicine

University of Milano-Biocca credit University press

A collaborative study involving experts in Europe and the US found the treatment of stem cells appears to protect the brains of MS patients from further damage.

In the first-ever clinical trials in humans, the researchers found patients injected with the stem cells exhibited no increase in disability or worsening of symptoms.

The promising study, published in the journal Cell Stem Cell, is hoped to lead to further clinical trials that could provide treatment for progressive MS.

More than two million people live with MS across the globe and, whilst some treatments currently available can reduce the severity and frequency of relapses, two-thirds of patients still transition into a debilitating secondary progressive phase of the disease within 25 to 30 years of diagnosis.

An autoimmune disorder like Lupus, ALS, and Crohns, MS is characterized by the bodys immune system attacking and damaging myelinthe protective sheath of tissue around nerve fibers, disrupting messages sent around the brain and spinal cord.

An immune cell called a microglial can attack the central nervous system in progressive forms of MS, causing chronic inflammation and damage to nerve cells.

Recent scientific advances involving the transplantation of stem cells have raised expectations that therapies could be developed to help ameliorate this damage.

Previous experiments in mice from the Cambridge University unit of the new study team have shown that skin cells reprogrammed to be brain stem cells and transplanted into the nervous system can help to reduce inflammation, and may even be able to help repair damage caused by MS.

The research team behind the latest study, incorporating experts from the UK, US, Switzerland, and Italy, completed a world-first early-stage clinical trial in which neural stem cells were injected into the brains of 15 patients with secondary MS recruited from two Italian hospitals.

Along with the Cambridge unit, teams performed the trials at the University of Milano-Bicocca, the Casa Sollievo della Sofferenza and Santa Maria Terni hospitals in Italy, the Ente Ospedaliero Cantonale hospital in Lugano, Switzerland, and the University of Colorado in the United States.

The transplant patients were followed for 12 months. No deaths or serious adverse events related to the treatment were observed throughout the year. Side effects were mild, transient, and reversible.

All patients had a high degree of disability at the start of the clinical trialfor example, they were wheelchair-boundbut during the 12-month observation period, they showed no increase in disability or worsening of symptoms. None of the patients showed symptoms that would indicate a relapse or signs of clinical progression, suggesting substantial stability of the pathology.

A subgroup of patients was also assessed for changes in the volume of brain tissue associated with disease progression, which found that the larger the dose of injected stem cells, the smaller the reduction in this brain volume over time.

HOPE FOR AUTOIMMUNE DISORDERS: MS Breakthrough: New Genetic Clues to What Triggers Multiple Sclerosis Discovered by Scientists

The researchers speculate that this may be down to the stem cell transplant dampening inflammation.

Professor Stefano Pluchino, a co-leader of the study from the University of Cambridge, admitted that though the research had limitations, the findings were extremely promising.

We desperately need to develop new treatments for secondary progressive MS, and I am cautiously very excited about our findings, which are a step towards developing a cell therapy for treating MS, he said.

OTHER STEM CELL STUDIES: Sound Waves Convert Stem Cells Into Bone in Regenerative Breakthrough

We recognize that our study has limitations: it was only a small study and there may have been confounding effects from the immunosuppressant drugs, for example, but the fact that our treatment was safe and that its effects lasted over the 12 months of the trial means that we can proceed to the next stage of clinical trials.

Professor Angelo Vescovi, another co-leader of the study from the University of Milano-Bicocca, added that it has taken nearly three decades to translate the discovery of brain stem cells into this experiment, which he said will pave the way to broader studies soon to come.

SHARE This Latest In Stem Cell Science with Your Friends

Read more here:
Exciting Clinical Trials of New Stem Cell Injection Treatment Shows Promise for Halting Multiple Sclerosis - Good News Network

Paolo Macchiarini: How ‘Dr. Death’ Scammed The World – All That’s Interesting

By Stem Cell Medicine

In 2011, Dr. Paolo Macchiarini revolutionized transplant science when he successfully placed the world's first synthetic trachea into a man in Sweden but soon, his patients began dying in droves.

In her documentary A Leap of Faith (2014), newscaster Meredith Vieira told the audience: Just imagine a world where any injured or diseased organ or body part you have is simply replaced by a new artificial one, literally manmade in the lab, just for you. This incredible future, Vieira explained, was within grasp thanks to a surgeon named Paolo Macchiarini.

Macchiarini had risen to fame in 2008 when he performed a revolutionary operation on a young mother, replacing her windpipe with a donated trachea lined with stem cells from her bone marrow. This, it seemed, heralded a new age in modern medicine. And Macchiarini became a hero doctor who performed almost two dozen tracheal regeneration procedures.

But Paolo Macchiarini was not what he seemed. Before long, his patients began to suffer from horrific side effects and most of them died. It also soon came to light that the hero doctor had not only embellished much of his resume but that he was a shameless pathological liar in his personal life.

Paolo Macchiarinis dramatic fall from grace, including criminal charges against him and the retractions of many of his research papers, will be covered in Peacocks Dr. Death as well as a new Netflix documentary.

Paolo Macchiarini was born to Italian parents in Switzerland on August 22, 1958. But the rest of his personal and professional biography should be taken with a large grain of salt.

Macchiarini claimed that he had a difficult childhood growing up in Basel and often felt like an outsider. While studying medicine at the University of Pisa, Macchiarini purportedly had a formative experience when his father fell ill and local doctors could find nothing wrong with him. Shortly thereafter, his dad died.

In Macchiarinis telling, he then left Italy to avoid a system that only rewarded those with the right connections. He claimed that he went on to study or work at the University of Alabama at Birmingham, the University of ParisSud, and Hannover Medical School. But Macchiarini would soon exaggerate his experience. He said, for example, that he earned a masters degree in biostatistics in Alabama. However, the university denies this. They say he merely completed a six-month non-surgical fellowship in hematology and oncology.

By 2008, Paolo Macchiarini was working in Spain. And it was there that he suddenly captured the worlds attention.

In June, Macchiarini performed a revolutionary surgery on a 30-year-old mother named Claudia Castillo. Castillo had damage to her airways caused by tuberculosis that caused severe shortness of breath. So Macchiarini took a donor trachea, covered it with stem cells from Castillos bone marrow, and effectively gave her a new windpipe.

We are terribly excited by these results, Macchiarini said at the time, according to The New York Times. Just four days after transplantation the graft was almost indistinguishable from adjacent normal bronchi.

He wasnt the only one who was excited. Word of the surgery quickly spread, and not only was Macchiarini heralded as the next new thing in medicine, but patients lined up to get transplants like Castillo had. In all, The New York Times reports that 20 people in Russia, Spain, Britain, the U.S., and Sweden would receive tracheal regeneration procedures performed by Macchiarini.

Paolo Macchiarinis method seemed like a miracle, and his professional reputation soared. By 2011, he was working in Sweden at the prestigious Karolinska Institute, where he modified his technique by using a plastic windpipe instead of a donors.

But in less than a decade, nearly everything about the doctors personal and professional life was revealed to be a lie.

Paolo Macchiarinis reputation received a double blow in 2016. The first came from a Vanity Fair article that laid out the incredible lies the doctor had told during his relationship with NBC producer Benita Alexander.

Alexander and Macchiarini had met during the filming of Meredith Vieiras documentary on the surgeon and his apparent medical miracles, A Leap of Faith (2014). Vieira had learned about Macchiarini in 2012, and during the making of the subsequent documentary, her producer Alexander and her subject Macchiarini fell in love. By Christmas 2013, they were engaged.

Paolo Macchiarini was well known around the world at that point, and he promised Alexander a star-studded wedding. He told her that he was Pope Francis personal doctor and that not only had the pope suggested they have the wedding at his summer residence, Castel Gandolfo, but hed even offered to officiate.

Indeed, when the couples wedding invitations arrived, Vanity Fair reports that they included potential guests like the Obamas, the Clintons, the Putins, the Sarkozys, Andrea Bocelli, Kofi Annan, Russell Crowe, Elton John, John Legend, Kenny Rogers, Meredith Vieira, and His Holiness Pope Francis.

But as Alexander prepared to move from New York to Europe to be with Macchiarini, she got an unsettling email from a friend. It clearly showed that the pope would be in South America at the same time he was supposed to be officiating her wedding. From there, with the help of a private investigator, Alexander found that almost everything Macchiarini had told her about the wedding was a lie. He didnt even know the pope and he was still married to his wife of 30 years.

Weeks after Vanity Fair exposed Macchiarinis romantic fraud, a three-part expos of the surgeons medical career aired on Swedish television. It showed that his miraculous artificial windpipes were actually doing more harm than good. Almost all of the 20 people who received an experimental trachea from Macchiarini had died. And many suffered horrible, drawn-out deaths.

According to The Guardian, one expert even remarked: If I had the option of a synthetic trachea or a firing squad, Id choose the last option because it would be the least painful form of execution.

Since he was exposed as a fraud, Paolo Macchiarini has faced criminal charges. In June 2022, he was convicted of gross assault for implanting his artificial tracheas into three patients who later died. Macchiarini was sentenced to two-and-a-half years in prison.

Questions about the miracle surgeon still linger, which will be explored in Peacocks Dr. Death and a new Netflix documentary. But it ultimately seems that Paolo Macchiarini was a con artist who scammed both his patients and people close to him.

Were taught from an early age that when something is too good to be true, its not true, a psychopathy expert told Vanity Fair. And yet we ignore the signals Macchiarini is the extreme form of a con man. Hes clearly bright and has accomplishments, but he cant contain himself. Theres a void in his personality that he seems to want to fill by conning more and more people.

After reading about Paolo Macchiarinis dramatic rise and fall, learn the story of Doctor Death Christopher Duntsch. Then, discover the story of serial killer Dr. Harold Shipman.

Go here to read the rest:
Paolo Macchiarini: How 'Dr. Death' Scammed The World - All That's Interesting

7 medical breakthroughs that gave us hope in 2023 – National Geographic

By Stem Cell Medicine

COVID-19 has continued to claim lives in 2023, killing more than 50 thousand patients in the United States alone and bringing the global death toll to almost seven million people. The pandemic has also created an epidemic of survivors who continue to suffer from long COVID. But it wasnt all bad news in 2023.

With more people becoming immune against the virus, the World Health Organization decided, on May 5, that COVID-19 no longer constitutes a public health emergency of international concern. Updated boosters of existing vaccines helped reduce the number of cases, hospitalizations, and deaths, and a new COVID vaccine from Novavax was approved this year.

Aside from COVID-19 vaccines, there were many other interesting and groundbreaking discoveries made this year, some of which are especially notable for their potential impact on health and medicine.

The worlds first CRISPR-based gene therapy was approved by drug regulators in the United Kingdom on November 16, and the U.S. on December 8. It treats sickle cell disease and beta thalassemia, genetic disorders that affect the red blood cells. Hemoglobin, found in red blood cells, carries oxygen around the body. The errors in hemoglobin genes create fragile red blood cells that cause a shortage of oxygen in the body, a condition known as anemia. Patients with sickle cell disease also suffer from infections and severe pain when sickled cells form clots and impede blood flow, while patients with beta thalassemia must receive blood transfusion every three to four weeks.

The newly approved gene therapy, named CASGEVY, corrects faulty hemoglobin genes in a patients bone marrow stem cells so they can produce functioning hemoglobin. A patients stem cells are harvested from their bone marrow, edited in a laboratory, and then infused back into the patient. A single treatment can potentially cure some patients for life.

Two inventors who fine-tuned CRISPR (short for clustered regularly interspaced short palindromic repeats) to work as a precise gene-editing tool, Emmanuelle Charpentier and Jennifer Doudna, were awarded the Nobel Prize in Chemistry just three years ago in 2020.

This is just the first of dozens of potential treatments in development to treat other genetic diseases, cancer, or even infertility.

The U.S. Food and Drug Administration approved the first drug for Alzheimers that targets one underlying cause of the disease. While the drug, Leqembi, isn't a cure or improve symptoms in late-stage disease, after 18 months of treatment it slows declines in memory and thinking by about 30 percent if the medicine is given in the early stage of disease.

Leqembi is a monoclonal antibody that works by targeting amyloid plaques in the brain that are a defining feature of Alzheimers disease. When abnormal levels of a naturally occurring protein, called beta amyloid, clump together to form sticky plaques in brain, they trigger inflammation and damage neuronal connections. Accumulation of amyloid plaques leads to loss of memory and thinking causing Alzheimers disease.

Clinical trials indicate that Leqembi removes amyloid plaques from the brain, which slows the progression of the disease.

Yes, you read that right. Researchers from Japan presented evidence at a scientific conference that it is possible to produce healthy, fertile mice without an egg from a female mouse.

First, eggs were made from the stem cells derived from the skin cells of a male mouse. These eggs were fertilized with sperm of another male and then the fertilized egg was transferred into a female mouse where it grew and matured.

Although just seven out of more than 600 implanted embryos developed into baby mice, the pups grew normally and were fertile as adults.

It is not yet known if the mouse pups will develop exactly like those born through conventional breeding. These findings have not yet been published in a peer reviewed journal and similar preliminary steps have so far failed in humans.

Scientists have produced the first complete brain-wiring diagram of an insect brain. This may not sound impressive but the brain, even that of a fruit fly, contains vast networks of interconnected neurons called the connectome.

Until now, only the brains of a roundworm, a sea squirt, and a marine worm have been completely mapped; each of which contains just a couple of hundred connections.

But a complete map of the connectome of a fruit fly larva reveals it contains more than 3,000 neurons and more than half a million connections between them. Developing this map took an international team of scientists more than five years. Although a fruit fly brain is much simpler than that of humans, the techniques developed will help map more complex brains in the future.

The neural circuits In the fruit fly brain look similar to neural networks used in machine learning. Understanding the similarities and complexities of the fly brain connectome can help to decipher how the human brain works and how neurological diseases develop. It can also lead to the development of new machine learning methods and more efficient artificial intelligence systems.

Scientists show that when pigment-producing cells, called melanocytes, get stuck in an immature state, they fail to develop their blonde, brown, red, or black, hair color. This arrested state leads to graying hairs. New hair grows from follicles, found in the skin, where melanocytes also reside.

The scientists at New York University observed single melanocyte stem cells migrate up and down the individual hair folicle of mice over two years. To their surprise, they found that melanocyte stem cells can switch back and forth from gray immature stem cells to mature colored cells as they traverse up and down during the life cycle of the hair. But as hair ages, the melanocyte stem cells get sluggish after multiple cycles and become trapped near the base of the hair as immature melanocytes. With no pigment being produced, the hair turns gray.

Scientists have found that some bacteria that are frequently found in many gastrointestinal tract tumors directly help cancer cells evade the bodys immune response.

Not only do these bacteria cooperate with tumor cells to promote cancer progression, they also help them spread more rapidly by breaking down anticancer drugs and causing the treatment to fail.

This research suggests that some anticancer drugs are effective because they also kill the tumor dwelling bacteria. Understanding how the tumor's microenvironment affects its survival and progression can open new doors of treating cancer.

A new artificial intelligence (AI) tool can predict pancreatic cancer up to three years before actual diagnosis, by identifying specific patterns of conditions that occurred in patients health records.

Pancreatic cancer is rare but it is the third largest cause of cancer-related deaths. It is so deadly because it is generally detected in the late stages when the disease has already spread to other areas of body.

Symptoms of early stage pancreatic cancer are easily misdiagnosed, but many patients could live longer if the cancer was detected early. That led scientists to train an AI algorithm on the medical records of 6.2 million people from Denmark spanning 41 years to detect the patterns hidden in the records of 24,000 patients who later developed pancreatic cancer.

In the medical records, each disease is recorded with a code. The AI model analyzed the combinations of these disease codes and the timing of their occurrence. By comparing specific sequences of conditions that preceded a diagnosis of pancreatic cancer, the AI model learned to identify those at greatest risk for the disease.

The scientists then tested the AI tool by analyzing the records of nearly 3 million U.S. veterans spanning 21 years. The computer algorithm correctly identified almost 4,000 individuals, up to three years before they were actually diagnosed with pancreatic cancer. The study shows that AI models can be as accurate as genetic testing in predicting the risk of pancreatic cancer. Because pancreatic cancer is so rare, genetic screening is currently recommended only for high risk individuals, or with those with a family history of the disease.

Editor's Note: This story has been updated to include news that the FDA approved gene therapies for sickle cell disease.

Read the original post:
7 medical breakthroughs that gave us hope in 2023 - National Geographic

F.D.A. Approves 2 Sickle Cell Treatments, One Using CRISPR Gene Editing – The New York Times

By Stem Cell Medical Center

On Friday, the Food and Drug Administration approved the first gene editing therapy ever to be used in humans, for sickle cell disease, a debilitating blood disorder caused by a single mutated gene.

The agency also approved a second treatment using conventional gene therapy for sickle cell that does not use gene editing.

For the 100,000 Americans with the disease, most of them Black, the approvals offer hope for finally living without an affliction that causes excruciating pain, organ damage and strokes.

While patients, their families and their doctors welcome the F.D.A.s approvals, getting either therapy will be difficult, and expensive.

It is practically a miracle that this is even possible, said Dr. Stephan Grupp, chief of the cellular therapy and transplant section at Childrens Hospital of Philadelphia. Dr. Grupp, who consults for Vertex, said his medical center was hoping to begin treating sickle cell patients next year.

But, he added, I am very realistic about how hard this is.

The obstacles to treatment are myriad: an extremely limited number of medical centers authorized to provide it; the requirement that each patients cells be edited or have a gene added individually; procedures that are so onerous that not everyone can tolerate them; and a multimillion-dollar price tag and potential insurance obstacles.

As a result, sickle cell experts said, only a small fraction of patients in the United States are expected to receive the new treatment (to say nothing of the millions of sickle cell patients overseas, particularly in Africa, for whom it may be completely out of reach for now). The F.DA. estimates that about 20,000 patients who are 12 and older and have had episodes of debilitating pain will be eligible for the therapies.

The gene editing treatment, called Exa-cel and using the brand name Casgevy, was jointly developed by Vertex Pharmaceuticals of Boston and CRISPR Therapeutics of Switzerland. It uses CRISPR, the Nobel Prize-winning gene editing tool, to snip patients DNA. For a small number of subjects in clinical trials, it corrected the effects of the mutation, which results in red blood cells that are shaped like sickles or crescents that become caught in blood vessels, blocking them.

Casgevy is the first treatment to be approved that uses CRISPR. Patients will also need expensive, intensive medical care and a long hospitalization.

The other treatment, called Lyfgenia and made by Bluebird Bio of Somerville, Mass., uses a common gene therapy method to add a good hemoglobin gene to patients DNA.

Vertex says its price to edit a patients genes will be $2.2 million; for, Bluebird it will be $3.1 million.

But living with the disease is also extremely costly: On average, $1.7 million for those with commercial insurance over a patients lifetime. Patients themselves may pay about $44,000 out of pocket on average over the course of their lives.

For patients and the doctors who treat them, it is tantalizing to think of being free from the complications of sickle cell. So despite the many unknowns, medical centers say they are compiling lists of interested patients who are ready to pursue treatment when it becomes available.

We are talking for the first time about survivorship, said Dr. Sharl Azar, medical director of the comprehensive sickle cell disease treatment center at Massachusetts General Hospital. Patients, said Dr. Azar, who previously consulted for Vertex, are starting to hope they can live into their 70s and 80s rather than dying young.

Treatment will start with hospital visits to collect patients bone marrow stem cells the precursors of red blood cells that are treated to enable the production of healthy blood cells. Stem cells must be released from the marrow into the blood so they can be collected. To release them, doctors inject patients with a drug, plerixafor.

It can take months to get enough stem cells to send to a central facility for treatment. And Vertex has only one gene editing facility in the United States, in Tennessee, and one in Europe, in Scotland. Bluebirds facility is in New Jersey.

After editing a patients cells with CRISPR, technicians do a sequence of quality checks. About 16 weeks after the process begins, the cells will be shipped back to the medical center to be infused into the patient, said Dr. Julie Kanter, director of the adult sickle cell center at the University of Alabama at Birmingham.

At that point, doctors must clear the patients marrow with intensive chemotherapy to make way for the new cells. Patients remain in the hospital for a month or more while their edited stem cells repopulate their marrows, during which time they have no functioning immune system.

That is if they can find a medical center that offers the new therapy. Most hospitals will not be able to offer Casgevy even if they want to. So far, Vertex has authorized only nine centers to provide its treatment. The company says it will eventually authorize about 50.

Bluebird has 27 authorized centers and also plans to add more.

The gene editing treatment is so challenging and requires so many resources that leading medical centers say that even if they are authorized to provide it they would probably only be able to treat a small number of patients a year.

We cant do more than 10 a year, said Dr. Kanter, who has in the past consulted for Vertex and Bluebird Bio.

And, Dr. Kanter said, were really good at it, adding that her medical center had extensive experience treating sickle cell patients and participating in the Bluebird clinical trials.

Others said the same. Five to 10 a year, said Dr. Jean-Antoine Ribeil, clinical director of the Center of Excellence in Sickle Cell Disease at Boston Medical Center, which says it is the largest sickle cell center in New England and is one approved by Vertex to offer its therapy.

Vertex has not revealed how many patients cells it will be able to edit each year, saying only that it is confident it can meet the demand at the time the treatment is introduced.

Nor has Bluebird. But, Dr. Grupp said, Bluebirds gene therapy for thalassemia a genetic disorder in which the body does not make enough hemoglobin gives a hint. Bluebird, he said, has only been able to treat the cells of 50 patients a year since the drug was approved in August 2022. And that is for the entire country, Dr. Grupp said.

Insurance payments pose another obstacle. Before treatment starts, a patients insurer has to agree to pay. That can take months, said Dr. David Jacobsohn, chief of the division of blood and marrow transplantation at Childrens National Hospital in Washington. His medical center is among those authorized to provide the Vertex and the Bluebird treatments.

Most sickle cell patients are insured through Medicaid, noted Dr. John DiPersio, director of the Center for Gene and Cellular Immunotherapy at the Washington University School of Medicine in St. Louis. Dr. DiPersio consults for Vertex and Bluebird.

If every sickle cell patient in Missouri gets treated, the state couldnt afford it, he said.

Another concern involves unknowns about the new therapy. While a panel of F.D.A. experts concluded that the benefits outweighed the risks, doctors remain mindful of unexpected outcomes.

We dont know yet what the long-term effects will be, Dr. DiPersio said. We havent followed patients long enough just a couple of years. And stem cells, he added, will live forever, so if CRISPR or the Bluebird gene therapy does genetic damage, it will remain.

Haja Sandi, a 19-year-old student at Rowan University in New Jersey, hopes to be at the top of the list at the Childrens Hospital of Philadelphia.

She has frequent hospitalizations for pain so intense she has to take morphine. Her symptoms have forced her into remote schooling. There is no way I could do it in person, she said.

Hearing about the Vertex therapy, she contacted the hospital in Philadelphia asking if she could get it.

God willing, I will go forward with it, she said.

The Childrens Hospital of Philadelphia, among others, is hoping to get on Vertexs list of approved centers and is planning to take eligible patients on a first-come-first-served basis.

Still others, like Childrens National Hospital in Washington, will give priority to the sickest patients.

Dr. Azar intends to take a different approach if Massachusetts General is approved. He said he wanted to proceed with extreme caution, starting with just one patient and going through the entire process before accepting more.

He worries that a misstep could sully the treatment for those who could be helped.

Going forward, the therapies will be provided without the extensive support that the companies gave to clinical trial participants. And it will be a test case for using CRISPR gene editing to treat other diseases. CRISPR Therapeutics is now studying gene editing to treat cancer, diabetes, and A.L.S., among others.

It is a blessing and curse that we are going first, Dr. Azar said. Sickle cell disease has never been first for anything.

The people seeking the therapy mostly Black patients often mistrust the health care system, he added.

We want to do this right, Dr. Azar said. We dont want patients to feel like they are guinea pigs.

Continued here:
F.D.A. Approves 2 Sickle Cell Treatments, One Using CRISPR Gene Editing - The New York Times