Archive for the ‘Gene Therapy Clinics’ Category

resurrection-clinics.eu

Gene Therapy Clinics | Posted by admin
Aug 24 2018

We are currently witnessing a real breakthrough in immunological and genetic cancer therapies with innovative methods of treatment, which are virtually free of any adverse side effects as compared to chemotherapy.

The auto-vaccine or autologous cancer vaccine is derived from tissue fragments of the patient's own cancer and in the event of positive reaction the immune system becomes stimulated to recognize and destroy cancer cells, or it can significantly decrease the progression of the disease Immunotherapies, which can be used concurrently with the vaccine, are designed to activate lymphocytes in order to recognize cancer cells and to maintain the bodys defence mechanism active for a long time The new method of production of antibodies derived from cancer tissue has been covered by patents globally and it often brings impressive results. The combination gene therapy enables replacement of single sequences of DNA and it can effectively contribute to the cell transformation, its consequent repair and final regeneration. As each of us is an exceptional and orignal individual several main and accompanying therapy concepts have been proposed to treat cancer effectively and quite many of them bring astounding results. Our key objective is to support such efforts based on the continuous progress of research and with regard to promising perspectives in the future.

Link:
resurrection-clinics.eu

Hacking Your Genes Has Never Been Easier – Outside Magazine

Gene Therapy Clinics | Posted by admin
Sep 08 2017

Josiah Zayner and I are drinking fluorescent green beer at the ODIN, his Oakland lab. The tables are scattered with pipettes and disposable blue gloves, cases of Red Bull and Slim Jims are near at hand, and Drake is pulsing on the sound system. Its not St. Patricks Day, and the beer isnt really all that green. Its the ghostly luminescence of jellyfish pulsing through the depths. Thats because its chock full of glowing jellyfish protein.

But no jellyfish were harmed in the making of this beer. Zayner is the worlds most notorious biohackera new breed of garage tinkerer experimenting with DNA and biological systems outside the confines of traditional research. In this case, he genetically engineered a common brewers yeast by adding a jellyfishs green fluorescent protein (GFP) gene that he ordered online. As long as you know the DNA sequence of the gene you wantthe As, Cs, Gs, and Ts of the genetic codeyou no longer need the actual critter the gene came from. You just run off the code on a special DNA printer containing cartridges filled with liquid As, Cs, Gs, and Ts. Then you insert the new DNA into whichever organism you want to modify. The process is shockingly easy.

Download the Audm app for your iPhone to listen to more longform titles.

I raise my glass and pause. Zayners yeast suffuses the beer with a gauzy haze. I have no idea which species of jellyfish the GFP gene came from, but my hunch is that it has never been a regular part of the human diet. Zayner assures me its safe. Genetic engineers love GFP because its such an easy visual. They include it with whichever other gene theyre trying to insert, and if their organism glows, they know the experiment worked without having to send off a sample for DNA sequencing. Scientists have engineered glowing cats and mice using GFP, he points out, and the creatures lived just fine.

I eye Zayner. He has drunk a fair amount of GFP beer himself, and while I wouldnt say he looks normalhe sports dozens of piercings, plugs in both earlobes, and a spike of bleached hair that is sometimes blue and sometimes whitehe seems healthy enough.

Dude, he assures me, we did all the normal FDA tests. Its nontoxic, nonallergenic. As further proof, he shows me his left forearm. Right next to the tattoo that says CREATE SOMETHING BEAUTIFUL is a row of four tiny wounds. I modified myself with it. Its fine.

Agar plates and vials of microbes at the ODIN lab. (Justin Kaneps)

Zayner claims he was the first to genetically modify himself with another speciess DNA. For what he would call a science experiment and I would call conceptual art, he removed dead skin cells from his forearm (just rub the same spot with a toothbrush 200 times) and used a tattoo needle to punch jellyfish DNA into his skin. The DNA was attached to a common virus that specializes in infiltrating human cells and parking itself there. Those skin cells then began manufacturing the GFP along with all their regular proteinsthough, to Zayners disappointment, not enough to see the glow with the naked eye. He also performed a DIY fecal transplant on himself, which was chronicled in the recent documentary Gut Hack, curing himself of years of irritable bowel syndrome.

Im not sure what I think about any of this, starting with my beer. I tend to favor pilsner over jellybrew, but Im trying to maintain my chill biohacker persona, so I chug. Weve spiked it with enough blood orange juice to cover any weirdness, and frankly it goes down pretty easy. Just like that, this crunchy Vermonter who always shunned GMOs filled his belly with them, and starts looking forward to the week ahead.

Id always thought of genetic engineering as something done in million-dollar labs by corporate powerhouses like Monsanto. Extracting the DNA from life forms and inserting it into other life forms seemed like the kind of thing that required high-tech machines and years of trial and error. And it used to. But that was before Crispr, Science magazines 2015 Breakthrough of the Year, an engineered protein that can snip out sequences of DNA wherever you want. Its like a search and replace function for genes. It works on bacterial cells, it works on mouse cells, and it works on human cells. Its been used to engineer immune cells that kill cancer, viruses that kill antibiotic-resistant bacteria, female mosquitoes that cant reproduce (to crash the population), and a yeast infused with genetic code from poppies and rats that makes opioids out of sugar in a tank. But the crazy thing about Crispr is that its so easy to use and cheap to make that it also allows any budding hacker with some basic biology and a mischievous mind to play God in their garage.

The only thing missing is someone to share this knowledge with the multitudes, and thats where Zayner comes in. He started out traditionally enough: wunderkind Ph. D. candidate at the University of Chicago and then research fellow at NASA, where he adapted organisms for life on Mars. But then, in 2015, he veered off to become the pierced Prometheus of genetic engineering, bringing it down to us mortals from the labs of academia. In this field, there are a bunch of people with a lot of knowledge and a bunch of people with a lot of crazy, he says with a smile, but there are very few with a lot of knowledge and a lot of crazy.

Not for the first time, I smile back at Zayner and try to gauge the crazy. For now Im coming down on the side of like a fox. Hes made a huge success of the ODINshort for Open Discovery Institute and inspired by the Norse godthe combination lab and mail-order business he founded in 2013 to make DIY bio accessible to everyone. The ODIN sells pre-engineered GFP yeast ($80) online, along with DIY Crispr kits ($150), fluorescent-yeast-engineering kits ($160), something called the Amino DNA Playground ($349), and a complete Genetic Engineering Home Lab Kit ($999) stocked with pipettes, tubes, scales, antibiotics, agar, light-activated bacteria, bioluminescent bacteria, Crispr, and a PCR machine, which makes copies of DNA through polymerase chain reaction. The ODINs clients include community colleges, high school kids, and mysterious individuals.

Jars of Crispr. (Justin Kaneps)

All ODIN kits are designed to engineer bacteria or yeast, the cheapest and simplest critters to work with, and they focus on obvious visuals like GFP. They are the Easy-Bake Ovens of genetic engineering. They offer quick success to rank amateurs like me and a tantalizing taste of the endless possibilities. Where we take it from there is up to us.

Zayner and his fellow biohackers are big on genetic freedom. Everything your body makes or does is encoded by a gene. And the more we learn about the genetic basis of human processesfrom disease and life expectancy to athletic and mental performancethe closer we get to being able to reprogram our bodies. I think we could do substantial changes to ourselves right now, Zayner says. You could go a little more crazy than scientists have been willing to let on.

For years there have been rumors that people already are. Gene doping, as its called, could theoretically give anybody the ability to burn oxygen like a Tibetan mountaineer, to build muscle like LeBron James, and to never get heart disease. Its all in the genes. Its in the hard work and good habits, too, but without certain tools you can only go so far. And in either the shady present or the not so distant future, well all have access to those tools, which Zayner finds pretty exciting. This is the first time in human history that were no longer stuck with the genes we had at birth. It fucking blows your mind.

He sees no reason to let corporations and ivory-tower institutions have all the fun. Hence the Easy-Bake Ovens. Give a man a cookie and he eats for a day. Teach a man to cook and youve stolen fire from the gods.

Josiah Zayner. The name screams Marvel Comics. The backstory, too: Country childhood on an Indiana farm. Pentecostal parents. (His brothers are Micah, Zachariah, and Jedediah; the dog was named Jeremiah.) Missionary in Peru. Teenage member of the late-nineties hacker collective Legions of the Underground. Biophysics Ph.D. from the University of Chicago. Synthetic-biology fellowship at NASAs Ames Research Center. Then something goes horribly wrong.

In Zayners case, there was no lab explosion. No rampaging through the streets of Mountain View, paralyzing Google employees with jellyfish tentacles sprouting from his back. No, what went wrong is that Zayner discovered that NASA was deadly dull. Empty offices. Stultifying bureaucracy. A supervisor who actually told him to spend less time in the lab. Not the place for someone who wanted to change the universe. So he did what any budding superhero would do: he went rogue.

Crispr and pipettes. (Justin Kaneps)

As his two-year NASA fellowship neared its end in 2015, Zayner launched an Indiegogo campaign offering contributors their own DIY gene-editing kit. Hed learned just enough while getting his Ph.D. to realize that genetic engineering was way more accessible than most people knew, and he couldnt wait to liberate it from the elite labs he loathed and bring it to the people, because, as he told me, I was always that poor-as-dirt kid dreaming that he could do some great experiment. The pitch video featured shots of Zayner swigging from a flask at the lab bench (his kitchen counter) while the voiceover asked, If you had access to cutting-edge syntheticbiology tools, what would you create? The campaign raised more than $70,000.

It also freaked out critics. Zayners campaign is worrisome because it does not seem to comply with the DIYbio.org code of conduct, Todd Kuiken, a scholar in the Genetic Engineering and Society Center at North Carolina State University, wrote in Nature in 2016. He was referring to the nonprofit founded in 2008 to foster safe practices in DIY biology. For example, he noted, The video that accompanies his campaign zooms in on petri dishes containing samples that are stored next to food in a refrigerator. Kuiken also believes there needs to be a robust public dialogue about the responsible use of Crispr.

The refrigerator comment still annoys Zayner. So are you saying that being able to do science is a class thing? Only people who can afford second fridges should do science? But he got his act together and bought another fridge, in part because he was already under scrutiny from the FDA, which had threatened to seize his equipment because of his Internet sales. Zayner has also been warned of possible prosecution by officials in Germany, where biohacking is banned. But the practice is perfectly legal throughout the United States, mostly because it has never occurred to legislators to outlaw such a thing, and the ODIN is doing well. Zayner sells thousands of gene-editing kits globally every year, and he expects to gross at least $400,000 in 2017. The world wants this.

The workday at the ODIN starts late-morning. One employee is multi-tasking, packing kits for the days orders while he propagates new batches of microbes. Zayners brother Micah is scarfing Chinese takeout on the couch. The air is redolent with the funk of E. coli bacteria and young male. Zayner solders new wiring onto used PCR machines (There are few things Im one of the worlds leading experts on, but finding functional lab equipment on eBay is one of them, he says) while guiding me through an attempt to engineer antibiotic resistance into E. coli using Crispr. Despite the punk trappings, Zayner is gentle, kind, and a very good teacher.

We rehydrate some dried E. coli in a test tube, pour it into a petri plate containing nutrients, and set it aside overnight. In the morning, we have a flourishing colony of fuzzy white bacteria. We scrape it up, divide it into two plastic tubes of liquid, and to one tube add a few drops of Crispr programmed to change a single A to a C, which will flip the electrical charge of a protein in the bacteria from positive to negative at the point where streptomycin normally attacks it, repelling the antibiotic molecules. Then we pour the two batches onto fresh agar plates laced with streptomycin and incubate everything at 99 degrees for 24 hours.

Genetically modified beer. (Justin Kaneps)

The next day, I pull our agar plates out of the incubator and examine them. Eureka! The normal bacteria is stone-cold dead. But the plate with the modified bacteria is studded with survivor colonies. Weve created GMOs in a day. They and their trillions of descendants will be immune to streptomycin.

Or they would have been if we hadnt killed the whole colony with bleach and thrown it in the trash. As crazy as our creation sounds, it turns out that it was pretty innocuous. This particular version of antibiotic resistance is so simplejust a single changed letter of DNAthat bacteria come up with it on their own all the time. We werent introducing anything the world hadnt seen before, and anyway our weak lab strain was about as dangerous as a cocker spaniel. Yet I cant help but wonder about all the biohackers out there who arent bleaching their experiments. What could the wrong person do with this knowledge?

Thats what I asked Ed You, the biological-countermeasures specialist at the FBIs Weapons of Mass Destruction directorate. You is the governments point person on bioweapons; its his job to worry about this stuff, but he had bigger things on his mind than the ODIN. The most dangerous bioterrorist out there is Mother Nature, he told me over the phone. Were getting hit with emerging and reemerging infectious diseases all the time. Bird flu, MERS, SARS, Zika, West Nile. If you think about a clear and present danger, its that. So we absolutely need the innovation that comes from the life sciences, from DIY bio, to make sure we develop the right counters.

Wait a minute, I said. You actually want them out there tinkering? Yes, he replied. Biology is proliferating quickly, but how do we address security in a way that doesnt handicap forward progress? If you shut down DIY bio, then you run a completely different national-security problem. If you stifle innovation, then youre going to be missing out on opportunities to come up with new vaccines, new biodefense, new countermeasures, new businesses. And if that happens, then youve developed a whole different kind of vulnerability.

You pointed out that the field was moving so fast that agents could never keep up with the pace of the advances. Instead, hes cultivated a neighborhood-watch mentality among the countrys scientists and biohackers. Theyre best positioned to see where the advances are coming from, he said. If someone like Josiah gets a suspicious order of some kind, he knows that hes got a local coordinator in the San Francisco field office he can contact.

Agar plates. (Justin Kaneps)

It all sounded strangely progressive for a bunch of G-men, but every expert I consulted told me that they had no concerns about Zayner. Forget the garagistas, they told me; worry about the academics. Many labs now have the technology and know-how to make some fearsome beasties. Last year, a scientist in Canada shocked the world when he managed to bring to life horsepox, a smallpox cousin that went extinct in the 1980s, by synthesizing its DNA from a sequence stored in a computer database. Are we entering a new era of bioterror?

Probably not, Zayner told me. Lets imagine youre the worst person in the world and you want to hurt people with biologicals. First you have to have the knowledge. Then you have to have the facility. Then you have to think about how its going to spread. It would be an astounding feat. Could you kill one or two people? Sure. But you can do that with a fucking kitchen knife.

That night, Zayner and I celebrate our successful biohack over pig-ear fries and sake at a Korean joint before heading over to Counter Culture Labs, a communal biohacker space where he occasionally teaches. Amid the lab benches and anarchist posters are shelves of strange plants under grow lights and a pig heart in a vat. One woman is attempting to create vegan cheese by inserting cow milk-producing genes into yeast, while another man is quietly sequencing the DNA of the mushrooms he collects in Mexico each summer. A small team are hard at work designing an organism that can produce human insulin. In keeping with the hacker ethos, they will gift it to the world open-source.

There are dozens of biohacker enclaves like this around the globe, such as Genspace in Brooklyn, New York, where hipsters can take Crispr classes and attend Biohacker Boot Camp. The U.S. has been the hub, but now Europe is coming on strong. DIYbio.org has nearly 5,000 members in its Google Group and boasts 99 local chapters, from Madison to Mumbai. Most biohackers never get beyond simple experiments with microbes, but a few have taken it further. David Ishee, a dog breeder in Mississippi, is editing heritable diseases out of his dalmatians. Sebastian Cocioba, a plant hacker in New York, engineered a pioneering blue rose gene, using a DNA sequence from a tropical clam that produces an intensely blue protein, as well as a beefsteak tomato that produces cow protein in its flesh. Cocioba, who operates out of his 12th-floor apartment in Long Island City, is so skilled that he has been asked by MIT to spearhead a top-secret flower project, the details of which cant be shared except to say that in a few years it will capture the worlds attention.

And what about people? I ask. How long before cyclists start giving themselves the EPO gene to produce more red blood cells, or lifters start playing around with the gene for human growth factor?

Zayner laughs. Dude, either people are already doing that shit, or its going to start immediately. Id be very surprised if there isnt somebody out there doing it already. Its so hard to test for. What are you going to do, look for DNA? If a professional athlete came to me right now and said, Ill give you $100,000 to make me a piece of DNA, Id be like, Hell yeah.

Zayner believes we should all have access to DIY bio. (Justin Kaneps)

Surprisingly, this is perfectly legal, though its long been banned by sporting organizations. Athletes and life-extension buffs have been sniffing around gene-therapy clinics for years, ever since pioneering physiologist Lee Sweeney, from the University of Pennsylvania, showed that mice injected with the gene IGF-1, or insulin-like growth factor, significantly increased their muscle mass. Sweeney has also shown that mice injected with endurance genes were able to run 70 percent farther on the wheel than their unmodified peers, and that couch-potato mice ran 44 percent farther.

Just this June, a team of U.S. and Israeli scientists announced the discovery of a rare genetic mutation linked to ten years of extra longevity in men. And in 2015, Liz Parrish, the CEO of the startup BioViva, announced that she was the first person to attempt to reverse her own aging with gene therapy. I am patient zero, she wrote on Reddit. I will be 45 in January. I have aging as a disease. Parrish traveled to a clinic in Colombia (the therapy isnt approved in the U.S.) and received injections of one gene to extend the lifespan of her individual cells and another to block myostatin, the hormone that regulates muscle deterioration.

Myostatin is the holy grail of potential dopers who believe they can both arrest the natural deterioration of muscle and build more in their youth. Muscle is metabolically expensive to maintain, so myostatins job is to stop new muscle from being made once youve got enough and to atrophy muscle you arent using. You can find images online of dogs, cows, and people with a rare mutation that shuts down the myostatin gene and turns them into Incredible Hulks. Scientists in China recently used Crispr to turn off the myostatin gene in two beagles. The dogs look healthy, happyand ripped.

But Im less interested in what athletes are doing than in something Zayner said to me on my first day in the lab: This is the first time in history that were no longer stuck with the genes we had at birth. If Zayner has his way, well all be sculpting our own evolution.

Lets be clear: dont try this at home! Although hundreds of gene-therapy trials are under way, and many experts believe they will eventually transform almost every aspect of human health, few have been proven safe. When you start scrambling your DNA, very bad things can happen. You can get cancer. Your immune system can attack the unfamiliar DNA, as happened when an 18-year-old with a rare metabolic disorder died during a University of Pennsylvania gene-therapy trial in 1999.

But sick people wont wait for years of trials, Zayner says. He hears regularly from people willing to roll the dice. Hes been consulting pro bono for a man using Crispr to treat his own Huntingtons disease and another who is treating his 32-year-old wifes advanced lung carcinoma with genetically engineered DNA vaccines. A lot of people contact me with stuff like thatIm suffering. Can you help?

Zayner sticks to the free advice, helping people figure out the sequence of the DNA they need without supplying anything himself, but he knows where this is headed. The only thing holding people back is morality. I have no doubt there are places in Singapore or Thailand or the Philippines doing it. They could totally create individualized cancer treatments right now. Clinics will pop up. Youll go to shops in the back alleys of Bangkok and hand $10,000 to a synthetic biologist and hell take a blood sample and make you up a vaccine in a couple of days.

Im flashing back to Blade Runners replicant shopsI just do eyeswhen Zayner gets a funny smile and cocks his head. Want to try something kind of creepy Ive been thinking about?

For our final piece of conceptual art, Zayner and I swab the crevices of our skin and inside our mouths with Q-tips and swirl the gunk into tubes of distilled water. We spread the contents over agar plates and incubate them overnight.

The next morning, Josiahthing is nearly barren, but Rowanthing is crawling with cells. Look at those big fat yeasties! Zayner mutters with envy. All I can think is, if this works, it will give new meaning to the term homebrew.

We scrape up some Josiahthing and Rowanthing and put each in its own microcentrifuge tube with some chemicals that soften up cell walls so new DNA can get inside. We pipette ten microliters of the jellyfish DNA into each tube, shake them up, let them sit for a few hours, then pour them across new agar plates and cross our fingers. If this actually works, I might make it a kit, Zayner muses.

By then I have to catch a flight home, so I tape up my petri plate and pack it, along with yellow-tint glasses and a blue LED, which makes the fluorescence easier to see. TSA doesnt bat an eye.

The next day I get an e-mail from Zayner: Any growth on that plate?

Yep! Four or five nice, puffy little white colonies.

Put on the glasses and shine blue light on them. Do they glow?

I don the glasses and hit the plate with the blue LED. There are a dozen tiny colonies that stay dull under the light, but there are also five large conical colonies fluorescing like the Green Goblin. Totally! I write back, and send a photo.

Amazing! So cool! So jealous. Mine didnt work.

I feel as proud as Victor Frankenstein. Ive created life from my own spit. In the following weeks, Rowanthing develops an apex so green you dont even need the glasses to see it. Whatever it is, its new to this planet, and its burbling away in my basement, waiting to meet the world.

Contributing editor Rowan Jacobsen (@rowanjacobsen) is a Knight Science Journalism Fellow at MIT. Justin Kaneps(@Justkaneps) is anOutsidecontributing photographer.

See the original post:
Hacking Your Genes Has Never Been Easier - Outside Magazine

Quick Hits: Withdrawn Leukemia Drug Returning, Drugmaker in $58M Settlement Over Sales Reps, and More – MedShadow (registration) (blog)

Gene Therapy Clinics | Posted by admin
Sep 08 2017

The leukemia drug Mylotarg (gemtuzumab ozogamicin), which was voluntarily withdrawn from the market in 2010 over safety concerns and questions about its efficacy, is available again. The FDA has approved the biologic for adults with newly diagnosed acute myeloid leukemia and for patients at least 2 years old who have had a relapse or didnt respond to prior treatment. Mylotarg originally received accelerated approval in 2000 for older adults who had experienced a relapse. But it was removed from the market after patient deaths and a lack of clinical benefit were observed in confirmatory trials. With the new approval, Mylotarg now has a lower recommended dose, a different schedule of how often the drug is given, and a different patient population. Pfizer, Mylotargs manufacturer, presented the FDA with additional data, analysis and research from clinical trials that lasted for 10 years in support of re-approval. The FDA said it allowed Mylotargs return after careful examination and based on the benefits outweighing the risks. Posted September 1, 2017. Via FDA.

Novo Nordisk has agreed to pay $58 million over allegations that some of its sales representatives downplayed a cancer risk associated with its diabetes drug Victoza (liraglutide) in marketing to doctors. When Victoza was approved in 2010, the FDA mandated it come with a Risk Evaluation and Mitigation Strategy (REMS) that required the drugmaker to provide information regarding Victozas potential risk of medullary thyroid carcinoma (MTC) a rare form of cancer associated with the drug to physicians. According to a complaint filed by the US Department of Justice (DOJ), some Novo Nordisk sales representatives created a misleading impression that the cancer risk associated with Victoza was incorrect or unimportant. In addition, they failed to accurately report important data regarding the drugs safety and efficacy. The DOJ also noted that a survey in 2011 found that half of primary care doctors polled said they did not know about the MTC risk. Posted September 5, 2017. Via US Department of Justice.

The FDA has approved the first-ever gene therapy, Kymriah (tisagenlecleucel), as a treatment for children and young adults for a type of leukemia. The immunotherapy is considered a breakthrough since it is made using the patients own T-cells, white blood cells that are part of the bodys immune system that fight infections and cancer. Kymriah is custom-made for each patient. A patients T-cells are sent to a manufacturing facility and then modified genetically to include a gene that has a specific protein that tells the T-cells to find and kill leukemia cells. After the modification, the T-cells are infused back into the patient. Researchers found that Kymriah led to remission of acute lymphoblastic leukemia in 83% of 63 children and young adult patients within 3 months. Despite the benefits, the treatment carries risks, including a boxed warning about a potentially fatal immune reaction known as cytokine-release syndrome. Other severe side effects seen with Kymriah include serious infections, low blood pressure (hypotension), acute kidney injury, fever and decreased oxygen (hypoxia). Because of these risks, the FDA is requiring that hospitals and clinics that want to dispense Kymriah need to be certified and their staff involved in the treatment trained to recognize and manage symptoms. Posted August 30, 2017. Via FDA.

Alanna McCatty is a recent graduate of Pace University with a degree in communications. At MedShadow, she reports on new findings and research on the side effects of prescription drugs.

See more here:
Quick Hits: Withdrawn Leukemia Drug Returning, Drugmaker in $58M Settlement Over Sales Reps, and More - MedShadow (registration) (blog)

FDA approves first cell-based gene therapy for use in the United States – Gears Of Biz

Gene Therapy Clinics | Posted by admin
Sep 08 2017

The U.S. Food and Drug Administration issued a historic action today making the first gene therapy available in the United States, ushering in a new approach to the treatment of cancer and other serious and life-threatening diseases.

The FDA approved Kymriah (tisagenlecleucel) for certain pediatric and young adult patients with a form of acute lymphoblastic leukemia (ALL).

Were entering a new frontier in medical innovation with the ability to reprogram a patients own cells to attack a deadly cancer, said FDA Commissioner Scott Gottlieb, M.D. New technologies such as gene and cell therapies hold out the potential to transform medicine and create an inflection point in our ability to treat and even cure many intractable illnesses. At the FDA, were committed to helping expedite the development and review of groundbreaking treatments that have the potential to be life-saving.

Kymriah, a cell-based gene therapy, is approved in the United States for the treatment of patients up to 25 years of age with B-cell precursor ALL that is refractory or in second or later relapse.

Kymriah is a genetically-modified autologous T-cell immunotherapy. Each dose of Kymriah is a customized treatment created using an individual patients own T-cells, a type of white blood cell known as a lymphocyte. The patients T-cells are collected and sent to a manufacturing center where they are genetically modified to include a new gene that contains a specific protein (a chimeric antigen receptor or CAR) that directs the T-cells to target and kill leukemia cells that have a specific antigen (CD19) on the surface. Once the cells are modified, they are infused back into the patient to kill the cancer cells.

ALL is a cancer of the bone marrow and blood, in which the body makes abnormal lymphocytes. The disease progresses quickly and is the most common childhood cancer in the U.S. The National Cancer Institute estimates that approximately 3,100 patients aged 20 and younger are diagnosed with ALL each year. ALL can be of either T- or B-cell origin, with B-cell the most common. Kymriah is approved for use in pediatric and young adult patients with B-cell ALL and is intended for patients whose cancer has not responded to or has returned after initial treatment, which occurs in an estimated 15-20 percent of patients.

Kymriah is a first-of-its-kind treatment approach that fills an important unmet need for children and young adults with this serious disease, said Peter Marks, M.D., Ph.D., director of the FDAs Center for Biologics Evaluation and Research (CBER). Not only does Kymriah provide these patients with a new treatment option where very limited options existed, but a treatment option that has shown promising remission and survival rates in clinical trials.

The safety and efficacy of Kymriah were demonstrated in one multicenter clinical trial of 63 pediatric and young adult patients with relapsed or refractory B-cell precursor ALL. The overall remission rate within three months of treatment was 83 percent.

Treatment with Kymriah has the potential to cause severe side effects. It carries a boxed warning for cytokine release syndrome (CRS), which is a systemic response to the activation and proliferation of CAR T-cells causing high fever and flu-like symptoms, and for neurological events. Both CRS and neurological events can be life-threatening. Other severe side effects of Kymriah include serious infections, low blood pressure (hypotension), acute kidney injury, fever, and decreased oxygen (hypoxia). Most symptoms appear within one to 22 days following infusion of Kymriah. Since the CD19 antigen is also present on normal B-cells, and Kymriah will also destroy those normal B cells that produce antibodies, there may be an increased risk of infections for a prolonged period of time.

The FDA today also expanded the approval of Actemra (tocilizumab) to treat CAR T-cell-induced severe or life-threatening CRS in patients 2 years of age or older. In clinical trials in patients treated with CAR-T cells, 69 percent of patients had complete resolution of CRS within two weeks following one or two doses of Actemra.

Because of the risk of CRS and neurological events, Kymriah is being approved with a risk evaluation and mitigation strategy (REMS), which includes elements to assure safe use (ETASU). The FDA is requiring that hospitals and their associated clinics that dispense Kymriah be specially certified. As part of that certification, staff involved in the prescribing, dispensing, or administering of Kymriah are required to be trained to recognize and manage CRS and neurological events. Additionally, the certified health care settings are required to have protocols in place to ensure that Kymriah is only given to patients after verifying that tocilizumab is available for immediate administration. The REMS program specifies that patients be informed of the signs and symptoms of CRS and neurological toxicities following infusion and of the importance of promptly returning to the treatment site if they develop fever or other adverse reactions after receiving treatment with Kymriah.

To further evaluate the long-term safety, Novartis is also required to conduct a post-marketing observational study involving patients treated with Kymriah.

The FDA granted Kymriah Fast Track, Priority Review, and Breakthrough Therapy designations. The Kymriah application was reviewed using a coordinated, cross-agency approach. The clinical review was coordinated by the FDAs Oncology Center of Excellence, while CBER conducted all other aspects of review and made the final product approval determination.

The FDA granted approval of Kymriah to Novartis Pharmaceuticals Corp. The FDA granted the expanded approval of Actemra to Genentech Inc.

Read the original here:
FDA approves first cell-based gene therapy for use in the United States - Gears Of Biz

FDA Approves New Cancer Treatment – Alive For Football

Gene Therapy Clinics | Posted by admin
Sep 05 2017

Analyst John Newman of Canaccord takes yesterday's FDA approval of Novartis' chimeric antigen receptor T-cell (CAR-T) therapy Kymriah as a meaningful victory for Kite Pharma Inc's (NASDAQ:KITE) fellow CAR-T therapy candidate Axi-cel.

"We're entering a new frontier in medical innovation with the ability to reprogram a patient's own cells to attack a deadly cancer", said FDA Commissioner Scott Gottlieb.

An FDA advisory committee had recommended the therapy for approval in July to treat the relapse of a blood cancer known as B-cell acute lymphoblastic leukemia, or ALL. While this was a groundbreaking approval, the therapy will cost $475,000 for 1 treatment, according to Kaiser Health News.

The CAR-T cell treatment developed by Novartis and the University of Pennsylvania is the first type of gene therapy to hit the USA market - and one in a powerful but expensive wave of custom-made "living drugs" being tested against blood cancers and some other tumors, too.

Most patients with ALL recover through other treatments such as radiation, chemotherapy and stem cells. The FDA said hospitals and clinics must become certified to distribute the treatment, meaning they are prepared to recognize and treat CRS and other potentially fatal neurological events.

Each dose of Kymriah contains a patient's own immune cells, which are sent to a lab to be genetically modified using a virus. Once re-injected into the patient's body, the T cells modified to replicate quickly, and the remission is rapid.

The therapy is being licensed and brought to market by the pharmaceutical company Novartis.

"Novartis is collaborating with (Centers for Medicaid Services) to make an outcomes-based approach available to allow for payment only when pediatric and young adult ALL patients respond to Kymriah by the end of the first month".

The price of the therapy is tagged at around $500,000. An immune overreaction called "cytokine release syndrome" can trigger high fevers, plummeting blood pressure and in severe cases organ damage, requiring special care to tamp down those symptoms without blocking the cancer attack. Because Kymriah can have life-threatening side effects, including unsafe drops in blood pressure, the FDA is requiring that hospitals and doctors be specially trained and certified to administer it, and that they stock a certain drug needed to quell severe reactions.

For now, it is only approved for use on ALL.

Dr. Len Lichtenfeld, deputy chief medical officer of the American Cancer Society, is excited by the drug's approval, but he has some reservations. This is elegant science. "There is still much more work to do", Lichtenfeld told Healthline. The safety and effectiveness of Kymriah was tested in one small clinical trial of 63 children and young adults with relapsed or refractory B-cell precursor ALL. Even then, it is prescribed only as a last resort when other forms of treatment have failed.

Still, "a far higher percentage of patients go into remission with this therapy than anything else we've seen to date with relapsed leukemia", said Dr. Ted Laetsch of the University of Texas Southwestern Medical Center, one of the study sites.

See more here:
FDA Approves New Cancer Treatment - Alive For Football

Global Cancer Biological Therapy Analysis & Forecast 2016 to 2023 – Digital Journal

Gene Therapy Clinics | Posted by admin
Sep 05 2017

Cancer Biological Therapy Analysis & Forecast: Global Industry Analysis, Capacity, Production, Price, Revenue, Size, Share, Growth, Trends, and Forecasts 2017-2022

This press release was orginally distributed by SBWire

Lawndale, CA -- (SBWIRE) -- 09/04/2017 -- Introduction Biological therapy treatment is done with the help of living organisms, parts of living organisms or laboratory manufactured version of such content. There are various types of biological therapies, which inhibit specific molecules involved in development and growth of cancer tumor. Such therapies known as; cancer targeted therapies.

The global cancer biological therapy market is expected to reach USD 82,276.8 million by 2023 at a CAGR of 4.7% during the forecasted period.

The global cancer biological therapy market is segmented on the basis of phases, types, end users and regions. On the basis of phases, the market is segmented into phase I, phase II and phase III. In stage I & II the real impact of these therapies is seen and giving a success rate of 35% in Phase 1 and 20% in Phase II. The success rate of phase I is 35%.

On the basis on types, the global cancer biological therapy market is segmented into monoclonal antibodies, cancer growth blockers, interferons, interleukins, gene therapy, targeted drug delivery, colony stimulating factor, cancer vaccines and others. Monoclonal antibodies accounted for the largest market share of the global cancer biological therapy market. Colony stimulating factor is the fastest growing market at a CAGR of 5.2% during the forecasted period.

On the basis on end users, hospitals & clinics dominates the global cancer biological therapy market. Registering USD 26,790.6 million in 2016 and expected to reach at USD 38,471.9 million by 2023 at the rate of 4.4 % from 2016-2023.

Request Sample Report @https://goo.gl/GPhHsa

On the basis of regions, the market is segmented into North America, Europe, Asia-Pacific and the Middle East & Africa. North America has the dominating market for cancer biological therapy. The cancer biological therapy market for North America is estimated at USD 19,481.2 million in 2016 and expected to reach by USD 29,516.9 million by 2023 at a fastest CAGR of 5.10%.

Key Players The leading market players in the global cancer biological therapy market include Merck Inc., F. Hoffmann-La Roche Ltd, Novartis AG, Amgen Inc., Bristol-Myers Squibb, Celgene, ELI Lilly and Company, EnGeneIC, and Pfizer Study objectives - To provide detailed analysis of the market structure along with forecast of the various segments and sub-segments of the global cancer biological therapy market - To provide insights about factors influencing and affecting the market growth - To provide historical and forecast revenue of the market segments and sub-segments with respect to countries - To provide historical and forecast revenue of the market segments based on channels, applications, and regions for the global cancer biological therapy market. - To provide strategic profiling of key players in the market, and comprehensively analysing their market share, core competencies, and drawing a competitive landscape for the market - To provide economical factors that influences the global cancer biological therapy market - To provide detailed analysis of the value chain and supply chain of the global cancer biological therapy market Target Audience - Pharmaceutical Companies - Pharmaceutical Suppliers - Cancer Research Organizations - Potential Investors - Key Executive (CEO and COO) and Strategy Growth Manager - Reaserch Companies Key Findings - North America accounted for the largest market share in the global cancer biological therapy market, USD 19,481.2 million in 2016 and expected to reach by USD 29,516.9 million by 2023 at a fastest CAGR of 5.10% - Colony stimulating factor is the fastest growing segment with a CAGR of and 5.2% in the global cancer biological therapy market, by types - Hospitals and clinics is contributing remarkable share in the market registering 47.8% in the global cancer biological therapy market, by end users in 2016

Obtain report details @http://www.provueresearch.com/product/global-cancer-biological-therapy-analysis-forecast-2016-to-2023/

The reports also covers regional analysis - North America o US o Canada - Europe o Germany o France o U.K. o Italy o Spain o Rest of Europe - Asia Pacific o Japan o China o India o Republic of Korea o Rest of Asia-Pacific - Middle East & Africa o Middle East o Africa

Do you have any Inquiry Before purcashing please fill the form @https://goo.gl/QJTeQh

About Provue Market Research Provue Market Research is a single destination for all the industry, company and country reports. We feature large repository of latest industry reports, leading and niche company profiles, and market statistics released by reputed private publishers and public organizations. We provide our clients not only with market statistics unveiled by avowed private publishers and public organizations but also with vogue and newest industry reports along with pre-eminent and niche company profiles.

For more information on this press release visit: http://www.sbwire.com/press-releases/cancer-biological-therapy-anal/release-857498.htm

Read the original post:
Global Cancer Biological Therapy Analysis & Forecast 2016 to 2023 - Digital Journal

New ‘hit-and-run’ gene editing tool temporarily rewrites genetics to treat cancer and HIV – GeekWire

Gene Therapy Clinics | Posted by admin
Sep 02 2017

Nanoparticles (orange) deliver temporary gene therapy to immune cells (blue) to give them disease-fighting tools. (Fred Hutch Illustration / Kimberly Carney)

CAR T immunotherapies are all the rage in the medical community, reprogramming a patients immune system to fight cancer. For some patients, theyve produced near-miraculous recoveries, and they could be a huge breakthrough in cancer treatment.

The business community is taking note as well: Kite Pharma, a biotech company developing these therapies, announced a deal to be acquired for $11.9 billion on Monday, sending stock prices of Seattle immunotherapy developer Juno Therapeuticsskyrocketing.

But there are still giant pitfalls to using the therapies on a large scale because they are incredibly complex and expensive to produce. Researchers from Seattles Fred Hutchinson Cancer Research Center are taking the problem head-on with new hit-and-run gene editing technology.

In a study published Wednesday in the journal Nature Communications, researchers led by Dr.Matthias Stephan reported they have developed a nanoparticle delivery system that can temporarily alter cells so they are able to fight cancer and other diseases.

The best part? The treatment is a powder that just needs to be mixed with water to activate and even better, it could be an essential breakthrough in making cutting-edge medical technology affordable for patients.

Stephan told GeekWire in a previous piece on the technology that his goal is to make immunotherapy so easy to access that it replaces chemotherapy as the front-line treatment for cancer.

What I envision is like the Walgreens flu shot scenario, or you go to your doctor and you get hepatitis B shot, he said at the time. You go there every Friday, and thats it.

We realized in order to outcompete chemotherapy, we have to design something that is at least as affordable and can be manufactured at large scale by one biotech company and shipped out to local infusion centers, Stephan said. At the moment, CAR T cell therapies must be made individually for each patient in specialized labs.

Heres how the new tech works: The nanoparticles designed by Stephan and his team act like shipping containers for bundles of mRNA, the molecules that tell cells how to build disease-fighting proteins. The nanoparticles also have molecules attached to the outside to help them find the right kind of cells, like a shipping label on a package.

When the mRNA is delivered to the cell, it prompts the cell to grow disease-fighting features, like the chimeric antigen receptor in CAR T cells that help them identify and kill cancer.Researchers said the technology could potentially be used to develop treatments for HIV, diabetes and other immune-related diseases.

In the short run, the tech could help researchers discover new treatments and therapies in the lab. It could one day be used in hospitals and clinics around the world, but will first need to undergo extensive clinical trials to ensure the tech is effective and safe to use in humans.

Read this article:
New 'hit-and-run' gene editing tool temporarily rewrites genetics to treat cancer and HIV - GeekWire

How one California county is fighting high-priced surgeries – Los Angeles Times

Gene Therapy Clinics | Posted by admin
Sep 02 2017

Retiree Leslie Robinson-Stone and her husband enjoyed a weeklong, all-expenses-paid trip to a luxury resort all thanks to the county she worked for.

The couple also received more than a thousand dollars in spending money and a personal concierge, who attended to their every need. For Santa Barbara County, it was money well spent: Sending Robinson-Stone 250 miles away for knee replacement surgery near San Diego saved the government $30,000.

The only difference between our two hospitals is one is expensive and the other is exorbitant, said Andreas Pyper, assistant director of human resources for Santa Barbara County, referring to the local options.

After years of hospital industry consolidation, frustration with sky-high hospital bills and a lack of local competition is common to many employers and consumers across the country. Fed up with wildly different price tags for routine operations, some private employers are steering patients they insure to top-performing providers who offer bargain prices. Santa Barbara County, with about 4,000 employees, is among a handful of public entities to join them.

The county has saved nearly 50% on four surgery cases since starting its out-of-town program last year, officials said. The program is voluntary for covered employees.

At a Scripps Health hospital in the San Diego area, the county paid $61,600 for a spinal fusion surgery that would have cost more than twice as much locally. It avoided two other operations altogether after patients went outside the area for second opinions.

Typically, employers are seeking deals through bundled payments in which one fixed price covers tests, physician fees and hospital charges. And if complications arise, providers are on the hook financially. Medicare began experimenting with this method during the Obama administration.

Santa Barbara County is among about 400 employers on the West Coast working with Carrum Health, a South San Francisco, Calif., start-up that negotiates bundled prices and chooses surgeons based on data on complications and readmissions.

Not all surgeons are equal. We dont want to give Scripps a blank check. That defeats the whole purpose, said Sachin Jain, Carrums chief executive.

Santa Barbara officials try to persuade workers and their family members to participate in its program by waiving co-pays and deductibles. The county pays about $2,700 in travel costs and still comes out way ahead.

If that doesnt speak to the inefficiencies in our healthcare system, I dont know what does, Pyper said. Its almost like buying a Toyota Corolla for $50,000 and then going to San Diego to buy the same Corolla for $16,000. How long would the more expensive Toyota dealership last?

Even as more employers and insurers embrace bundled payments, the Trump administration is applying the brakes.

In August, Medicare officials proposed canceling mandatory bundled payments for certain surgeries and scaling back the program for knee and hip replacements. Health and Human Services Secretary Tom Price, when he was still a member of Congress, accused Medicare of overstepping federal authority and interfering in the doctor-patient relationship. Hospital trade groups have voiced similar objections.

That leaves some health-policy experts dismayed.

These bundled payments put pressure on medical providers and the savings are astonishing, said Bob Kocher, a former health official in the Obama administration and now a partner in the venture capital firm Venrock.

Santa Barbara County officials said they had no choice after seeing their medical costs soar by 15% in each of the last two years. Like many local governments, it has an older workforce prone to chronic illness, blocked arteries and bum knees.

But health costs run higher than the state average in this scenic coastal county of about 450,000 people, according to data from Oakland-based Integrated Healthcare Assn. By one measure, the average health insurance premium in the individual market runs $660 a month in Santa Barbara, 27% higher than in Los Angeles.

Heidi de Marco / Kaiser Health News

Maya Barraza is Santa Barbara Countys manager for employee benefits.

Maya Barraza is Santa Barbara Countys manager for employee benefits. (Heidi de Marco / Kaiser Health News)

Still, Maya Barraza, the countys manager for employee benefits and rewards, knew the program would be a hard sell to workers. You dont want to be away from your family and whats familiar, she said.

Cottage Health, the countys largest health system, says it wants to keep patients in town for treatment and follow-up care.

Established in 1891, its grown from a single hospital to more than 500 beds across three hospitals, and annual revenue hit $746 million last year.

Valet attendants greet visitors at two entrances outside the groups white, Spanish-style hospital in the city of Santa Barbara. In the main lobby, the names of wealthy donors are splashed across one wall, including billionaire investor and Donald Trump confidant Thomas Barrack.

We are continually looking at reducing costs and improving quality, said Cottage Health spokeswoman Maria Zate. Cottage Health has some of the top surgeons in California.

Sixty miles north in Santa Maria, the states largest hospital chain, Dignity Health, offers another option: Marian Regional Medical Center.

Both Cottage and Dignity hospitals in Santa Barbara County have quality scores of fair to excellent for joint replacements, spinal procedures and coronary bypass surgeries, according to three years of Medicare data analyzed by research firm Mpirica Health.

Dignity Health didnt respond to requests for comment.

Carrum tries to help employers like Santa Barbara County find more affordable options. It has struck bundled price deals for various procedures with Scripps hospitals in the San Diego area, Stanford Health Care in the Bay Area and Swedish Medical Center in Seattle, part of the Providence Health chain.

Some companies have gone so far as to send patients overseas for cheaper care, but most employers favor a more regional approach, experts say. Workers still rely on local physicians for follow-up care.

For some hospitals, there are advantages in offering deep discounts: They get patients they otherwise would never see and are paid in full right after the patient is discharged, avoiding the onerous billing and collections process.

They also have the financial capacity to offer such sharply reduced prices.

Michael Bark, assistant vice president of payer relations at Scripps Health, said most hospitals significantly mark up their commercial rates for orthopedic procedures and cardiac surgeries to compensate for lower government reimbursements.

There are immense profit margins built into those cases, Bark said.

Robinson-Stone, a former county sheriffs deputy and a computer support specialist, was initially wary of traveling for her surgery. But the 62-year-old had ongoing pain that kept her from biking, walking her dogs and tending to her fruit trees. Medication and cortisone shots didnt work, and she had no ties to local surgeons. So she signed up online and was given a choice of six orthopedic surgeons at Scripps Green Hospital in La Jolla.

In June 2016, she and her husband, Frank Stone, checked in at the Estancia La Jolla Hotel and Spa.

Robinson-Stone met the surgeon on a Wednesday, had the operation the next day and returned to her hotel room by Saturday. She continued physical therapy at the hotel and returned to the hospital a few days later to have the staples removed.

She was back on her bike within two months and eventually lost about 20 pounds.

I just celebrated one year from surgery, she said, and Im a happy camper.

Chad Terhune is a senior correspondent for Kaiser Health News, an editorially independent publication of the Kaiser Family Foundation. Heidi DeMarco contributed to this story.

ALSO

Hailing a breakthrough in fighting cancer, FDA approves gene therapy that functions as a living drug

FDA cracks down on clinics selling unproven stem cell 'therapies'

Gilead is buying Kite Pharma, a cancer-fighting Santa Monica biotech firm, for $11.9 billion

Knocking on doors, climbing through fences: How L.A. County's health investigators are out trying to stop syphilis

Link:
How one California county is fighting high-priced surgeries - Los Angeles Times

Australian Market Declines – Markets Insider

Gene Therapy Clinics | Posted by admin
Aug 29 2017

(RTTNews) - The Australian stock market is declining on Monday after the banking regulator's announcement of the launch of an independent inquiry into Commonwealth Bank dragged down banking stocks. In addition, weakness in base metal prices weighed on mining stocks.

In late-morning trades, the benchmark S&P/ASX 200 Index is declining 39.80 points or 0.69 percent to 5,704.10, off a low of 5,700.50. The broader All Ordinaries Index is down 36.70 points or 0.63 percent to 5,766.70.

The big four banks - ANZ Banking, Westpac, Commonwealth Bank and National Australia Bank - are lower in a range of 1.1 percent to 1.7 percent.

The Australian Prudential Regulation Authority or APRA said it will launch an inquiry to look at governance, culture and accountability practices at Commonwealth Bank after recent allegations that it violated laws.

In the mining space, Rio Tinto is declining more than 1 percent and Fortescue Metals is losing almost 2 percent, while BHP Billiton is up 0.2 percent.

Gold miners are advancing after gold prices gained on Friday. Newcrest Mining is edging up less than 0.1 percent and Evolution Mining is adding almost 1 percent.

Oil stocks are also higher after crude oil prices rose on Friday. Santos is rising more than 2 percent, Oil Search is adding 0.3 percent and Woodside Petroleum is up 0.2 percent.

Australian Pharmaceutical Industries, the operator of Priceline pharmacies, has withdrawn from the potential acquisition of Laser Clinics Australia saying the sale price was too high. Shares of API are adding 0.2 percent.

Amaysim Australia reported a 6.5 percent decline in net profit for the full year, while its underlying earnings rose 22.9 percent. The mobile service provider's shares are gaining almost 6 percent.

CSL has agreed to acquire U.S. biotechnology company Calimmune, which is developing a stem cell gene therapy to treat rate conditions such as sickle cell disease, for an up-front payment of $91 million. Shares of CSL are adding 0.3 percent.

Ten Network has been acquired by U.S. media giant CBS Corp. Shares of Ten Network are in a trading halt since June 13 after it was placed into voluntary administration.

In the currency market, the Australian dollar rose against the U.S. dollar, which weakened after the Jackson Hole speeches by global central bankers. In early trades, the local unit was trading at US$0.7925, up from US$0.7904 on Friday.

On Wall Street, stocks closed mixed on Friday after seeing early strength that partly reflected optimism about tax reform following comments from President Donald Trump's chief economic adviser Gary Cohn.

The Nasdaq edged down 5.68 points or 0.1 percent to 6,265.64, while the Dow inched up 30.27 points or 0.1 percent to 21,813.67 and the S&P 500 ticked up 4.08 points or 0.2 percent to 2,443.05.

The major European markets moved modestly lower on Friday. While the French CAC 40 Index slipped by 0.2 percent, the U.K.'s FTSE 100 and the German DAX Index both edged down by 0.1 percent.

Crude oil prices gained on Friday as the dollar fell and the U.S. petroleum industry braced for Hurricane Harvey. WTI crude rose $0.44 or 0.9 percent to close at $47.87 a barrel on the New York Mercantile Exchange.

See the rest here:
Australian Market Declines - Markets Insider

New Stanford drug saves child with deadly genetic disease – The Mercury News

Gene Therapy Clinics | Posted by admin
Aug 25 2017

At 7 months old, Zoe Harting got a shot at Lucile Packard Childrens Hospital Stanford that changed the course of her life.

A few months earlier, during a family Christmas vacation, Zoes parents, John and Eliza Harting of El Granada, realized something was wrong with their newborn.

Zoe was not developing at the same rate as her cousin even though the two were born just a week apart.

Her cousin was very mobile: wriggling around, pushing stuff, John Harting said. Zoe wasnt doing any of that. She was very quiet.

The Hartings got the difficult news in early 2013 that Zoe had a deadly genetic disease: spinal muscular atrophy type 1, or SMA-1. Nationwide, about 250 babies are annually diagnosed with the rare disease, or about one in 10,000.

They learned that their first child was expected to die before she turns 2.

Without effective treatment, Zoes muscles would progressively weaken, taking away her ability to walk, eat and, ultimately, breathe.

The Hartingswere told there was nothing they could do. Distraught and frustrated, they joined an SMA support group, now called Cure SMA, and found a new pediatrician.

It was a good thing we did, John Harting said, because our pediatrician happened to attend a conference where she met John Day.

Dr. Day, director of the Neuromuscular Division and Clinics at Stanford University, was about to conduct a clinical trial using nusinersen as the first drug for SMA-1.

Zoe was the first baby in the world to receive the drug.

Day emphasized to the Hartings that he didnt know if the treatment would work but they knew this was their only option.

In December 2016, the Food and Drug Administration approved Spinraza, developed by Biogen, as the first-ever sanctioned therapy for pediatric and adult patients with SMA.

Patients with SMA dont produce enough of a protein called survival motor neuron, or SMN, which helps send signals from the spinal cord to muscles. When the muscles dont get the signals, they atrophy.

Patients with SMA are missing the main gene, SMN1, that produces the protein. Patients have a second gene, SMN2, that also can produce the protein, but it only makes 5 to 10 percent of the amount needed.

The new drug works by acting like a patch to cover up the flawed portion of the SMN2 gene, which then spurs production of the protein.

What we need to do is get a person up to about 50 percent of the normal amount of protein, Day said. Its a 15-or-20 nucleic long signal that ends up being precisely paired with RNA. Thats what gives us this power. Make something incredibly focused on that flaw and it will fix that flaw but not have any other side effect.

Day said its important that families now know there is something doctors can do if they see the infants early enough.

Day said theres minimal awareness of the genetic disease largely because many patients die so young and pediatricians may not have updated information that treatment is available.

Today, a pediatrician gets a genetic test back and they might very well tell the family, Go home and love your child as long as you have them, Day said.

By the time a family does research and come across Days comprehensive care clinic, the child might be six or nine months old with irreversible muscular atrophy.

If we see them early enough, before they see any symptoms, the child may not see any muscular impact, Day said. Its potentially that effective of a treatment if we see the patient early enough.

Day is an advocate for newborn genetic screening so SMA is identified at birth and treatment can begin before the child shows signs of the disease.

Babies are not yet being treated in utero, but such treatment is under development, Day said.

The Hartings shared their story this month as part of SMA Awareness Month, because they want families to know the importance of early detection and that there is treatment. About one in 50 parents are carriers of the recessive gene disorder.

Every four months, Zoe, who is now 4 years old, goes to Stanford for a 12 mg dose of the drug through a lumbar puncture, similar to an epidural. She gets physical therapy in between shots.

She has a weak musculature, and a simple cold can immobilize her. She cant swallow or walk by herself. But after three years of treatment, she can now sit up, interact, draw and play. SMA does not affect cognitive development and there are small signs she will continue to gain muscle strength.

Day is quick to point out that the drug isnt a magic wand that makes the disease go away. But he said Zoe, who had a fairly aggressive course of SMA at three months, has strength she didnt have before treatment and theres hope for continued improvement.

She can talk, she can move her legs and arms, she even yells at me now, Day said with a chuckle. She has personality. She can throw a beach ball around. Shes going to have a life.

See the article here:
New Stanford drug saves child with deadly genetic disease - The Mercury News