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Category Archives: Genetic Therapy

Biogen boosts gene therapy strategy with Harvard pact focused on inherited eye disease – FierceBiotech

Mutations in more than 270 genes have been implicated in inherited eye diseases like retinitis pigmentosa. Now, Biogen has formed a research pact with Harvards Massachusetts Eye and Ear thats aimed at developing a gene therapy to help some patients with these blinding diseases.

The gene at the center of the new agreement, PRPF31, has been linked to autosomal dominant retinitis pigmentosa. PRPF31 mutations are believed to cause an estimated 25% of all retinitis pigmentosa cases. The partners did not disclose the financial terms of the deal.

The tie-up comes eight months after a Mass Eye and Ear team published preclinical research demonstrating a gene therapy technique for repairing cells withmutated PRPF31 genes. The technique partially restored the structure and function of retinal pigment epithelium cells, the team reported in the journal Molecular Therapy Methods & Clinical Development. The research was led by Eric Pierce, M.D., Ph.D., professor at Harvard Medical School and director of the inherited retinal disorders service at Mass Eye and Ear.

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Pierces team developed the technique, called adeno-associated virus (AAV)-mediated gene augmentation therapy, with the goal of preserving and possibly bringing back some vision in patients with PRPF31 mutations, he said in a statement. Biogen now has an exclusive license to develop the therapy worldwide and will fund the studies necessary to seek FDA approval.

Biogen has been working to build its expertise in gene therapy. In March 2019, it acquired Nightstar Therapeutics, which is in early development of a treatment for X-linked retinitis pigmentosa, for $877 million. Biogen fought off three other bidders to consummate that deala clear sign of the growing interest in gene therapy.

RELATED: Biogen-Nightstar deal sheds light on gene therapy feeding frenzy

Not all of Biogens forays into gene therapy for ocular diseases have succeeded, though. In 2018, the company pulled out of a research collaboration with Applied Genetic Technologies to develop several gene therapies, including one to treat the inherited retinal disorder X-linked retinoschisis. That therapy was shelved after it was ineffective in a phase 1/2 trial.

Several other gene therapies are being developed to treat retinitis pigmentosa. They include Allergans RST-001, which the company picked up when it acquired RetroSense Therapeutics for $60 million in 2016. RST-001 targets channelrhodopsin, a photosensitivity gene, and is designed to restore light sensitivity to retinal cells. It is currently enrolling patients for a phase 2a trial.

Mass Eye and Ear was the first center to administer Luxturna, Spark Therapeutics gene therapy for retinal degeneration caused by mutations in the gene RPE65, after the product was approved in 2017. One of the exciting aspects of our collaboration with Biogen is that mutations in the PRPF31 gene affect approximately 10 to 20 times more people than mutations in the RPE65 gene, Pierce said in the statement. Success with PRPF31 gene therapy could provide visual benefit to more patients, which is our ultimate goal.

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Hansa Biopharma Gets up to 350M to Make Gene Therapy Work in Resistant… –

Hansa Biopharma has granted an exclusive license to Sarepta Therapeutics for developing and promoting a pretreatment aimed to make a gene therapy to treat muscular dystrophy available to people that are naturally resistant to the treatment.

Gene therapy can be used to treat genetic conditions by delivering a healthy copy of the faulty gene using harmless recombinant viruses. The adeno-associated virus (AAV) is one of the most commonly used in gene therapy, and the basis of Sarepta Therapeutics gene therapy technology.

However, up to 70% of people naturally carry neutralizing antibodies against AAV. This prevents the transfer of the healthy gene sequence and raises safety concerns for the patient. Swedish company Hansa Biopharma is developing a pretreatment called imlifidase that works to eliminate these neutralizing antibodies prior to gene therapy treatments.

Imlifidase is an enzyme from the bacterium Streptococcus pyogenes that breaks down the antibodies that are involved in generating an immune response against external pathogens, inhibiting their activity within hours after administration.

Imlifidase is completely unique in development, said Emanuel Bjorne, VP Business Development at Hansa Biopharma. There is no product in the market that has this mode of action.

Sarepta Therapeutics aims to use imlifidase to extend its gene therapies for Duchenne muscular dystrophy and Limb-girdle muscular dystrophy to those patients that are naturally resistant to the AAV vectors used to deliver these treatments. According to the agreement, Hansa will get 8.8M ($10M) upfront and is eligible for a total of 350M ($397M) in development, regulatory, and sales milestone payments, in addition to royalties to future sales.

Sarepta Therapeutics will conduct preclinical evaluation of imlifidase as a pretreatment for gene therapy with Hansa providing our imlifidase expertise to the collaboration, said Bjorne. If everything goes according to plan, the company will start a clinical study of imlifidase in combination with Sareptas gene therapy in the second half of next year.

In preclinical models, Hansas technology has been successful in clearing the antibodies that prevent the success of gene therapies. If successful, this could offer the potential of extending existing gene therapy treatments to patients who would otherwise not be able to benefit from them. Hansa Biopharma is also investigating the use of this drug as a way to prevent the rejection of transplanted organs, and to treat cancer and rare autoimmune conditions.

Antara Mazumdar is a computational biologist based in Groningen, The Netherlands. She is also a freelance science writer who writes about various areas of biological research. Prior to that, she studied biomedical science and bioinformatics in New Delhi, India. Outside of work, she enjoys organizing scientific and cultural events, singing and is a traveling enthusiast.

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FDA Grants Orphan Drug Designation to Neurogene’s Gene Therapy for the Treatment of CLN5 Batten Disease – BioSpace

Orphan Drug Designation granted to Neurogenes adeno-associated virus vector with engineered transgene encoding the human CLN5 gene

NEW YORK--(BUSINESS WIRE)-- Neurogene Inc., a company founded with a mission to bring life-changing genetic medicines to patients and families affected by rare neurological diseases, today announced that the U.S. Food and Drug Administration (FDA) granted Orphan Drug Designation to adeno-associated virus vector with engineered transgene encoding the human CLN5 gene for patients with CLN5, a form of Batten disease. Batten disease, a common name for a rare class of diseases called neuronal ceroid lipofuscinoses (NCL), affects an estimated 2-4 out of every 100,000 children in the United States.

CLN5 is a devastating neurodegenerative disease with no FDA approved treatment options, said Rachel McMinn, Ph.D., Neurogenes Founder and Chief Executive Officer. Receiving Orphan Drug Designation from the FDA is an important regulatory milestone, and we look forward to advancing our gene therapy program into the clinic.

The FDA grants Orphan Drug Designation to drugs and biologics intended for the safe and effective treatment, diagnosis or prevention of rare diseases or conditions affecting fewer than 200,000 people in the United States. Orphan Drug Designation provides benefits to drug developers designed to support the development of drugs and biologics for small patient populations with unmet medical needs. These benefits include assistance in the drug development process, tax credits for clinical costs, exemptions from certain FDA fees and seven years of marketing exclusivity.

About CLN5 Batten disease, also called neuronal ceroid lipofuscinoses (NCLs), is a family of rare and fatal neurodegenerative diseases caused by pathogenic changes in one of a series of genes that result in the accumulation of abnormal storage material across multiple organ systems, including the brain, eye, skin and other tissues. The most prominent effects occur in the brain, where the progressive and inevitable loss of neurons lead to devastating declines in cognitive and motor function in those with Batten disease. The subtype CLN5 is a rare, pediatric-onset and rapidly progressive disease caused by defects in the CLN5 gene. CLN5 disease is characterized by progressive deterioration in intellectual and motor capabilities and vision loss, as well as seizures and death in childhood or adolescence. Diagnosis of the disease is confirmed through genetic testing. Currently, there are no approved disease-modifying therapies available.

About Genetic Testing Neurogene is committed to lowering the barriers of obtaining a genetic diagnosis for patients and has partnered with Invitae to co-sponsor two genetic testing programs. Healthcare providers can order, at no charge, an Invitae Epilepsy panel for any child under the age of eight who has had an unprovoked seizure, or the Detect Lysosomal Storage Diseases panel for patients suspected of having a lysosomal storage disease. Visit for more details.

About Neurogene Inc. Neurogene Inc. is focused on developing life-changing genetic medicines for patients and their families affected by rare, devastating neurological diseases. We partner with leading academic researchers, patient advocacy organizations and caregivers to bring therapies to patients that address the underlying genetic cause of a broad spectrum of neurological diseases where no effective treatment options exist today. Our lead programs are designed to use AAV-based gene therapy technology to deliver a normal gene to patients with a dysfunctional gene. Neurogene is also investing in novel technology to develop treatments for diseases not well served by gene therapy. For more information, visit

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The Wilderness of Rare Genetic Diseases and the Parents Navigating It – The New York Times

A confirmed diagnosis may take time.

Diagnosis represents the first step on this rare disease journey. Sometimes doctors will notice something off about the child during a newborn screening, and a genetic test will identify a known mutation in the DNA. But not all conditions are so quickly detected, and it can take several years for parents to get a confirmed diagnosis.

About half of all children never get that far, according to Marshall Summar, M.D., the director of the Rare Disease Institute at Childrens National Hospital in Washington, D.C. When you sequence someones DNA, you are going to find a lot of changes, Dr. Summar said. Figuring out which change might be the one that is causing it is a tremendous challenge.

Genetic counselors warn parents beforehand that they may not get a definitive answer as to what condition their child could have. They may have to check back each year. Dr. Summar estimates that between five and 10 new rare diseases are described in the scientific literature every week, making it challenging for the medical field to keep up.

Meanwhile, the realization that a child may have a debilitating, lifelong condition weighs heavily. Some parents, particularly mothers, blame themselves, said Lemuel Pelentsov, Ph.D., a nurse who studies the needs of rare disease families at the University of South Australia, in Adelaide. In a 2016 study by Dr. Pelentsov and his colleagues, about 40 percent of the 300 rare parents surveyed reported being treated for depression and an equal number for anxiety. One of the things they do to combat that, he said, is get very invested in the childs disease.

When parents reach out to other parents, they are not simply looking for emotional support or advice. They are rebuilding a social life, one that will revolve around their childs disease. Many rare diseases have their own support groups. Global Genes is an umbrella group that supports 600 disease-specific foundations, as well as parents of children whose diseases are so rare they have no foundation.

We encourage folks to work together, said Kimberly Haugstad, the organizations executive director whose son has a rare form of hemophilia, a condition in which the blood doesnt clot normally. The parent is going to come from such different places in their own walk of life.

Each year, Global Genes hosts a Rare Boot Camp to mentor and teach parents how to set up a nonprofit, create patient registries and fund research. After attending the boot camp, the Van Wyks and other parents founded GACI Global, an organization that connects families affected by GACI, along with medical professionals.

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Tiny mineral particles are better vehicles for promising gene therapy –

University of WisconsinMadison researchers have developed a safer and more efficient way to deliver a promising new method for treating cancer and liver disorders and for vaccination including a COVID-19 vaccine from Moderna Therapeutics that has advanced to clinical trials with humans.

The technology relies on inserting into cells pieces of carefully designed messenger RNA (mRNA), a strip of genetic material that human cells typically transcribe from a persons DNA in order to make useful proteins and go about their business. Problems delivering mRNA safely and intact without running afoul of the immune system have held back mRNA-based therapy, but UWMadison researchers are making tiny balls of minerals that appear to do the trick in mice.

These microparticles have pores on their surface that are on the nanometer scale that allow them to pick up and carry molecules like proteins or messenger RNA, saysWilliam Murphy, a UWMadison professor of biomedical engineering and orthopedics. They mimic something commonly seen in archaeology, when we find intact protein or DNA on a bone sample or an eggshell from thousands of years ago. The mineral components helped to stabilize those molecules for all that time.

Murphy and UWMadison collaborators used the mineral-coated microparticles (MCMs) which are 5 to 10 micrometers in diameter, about the size of a human cell in a series of experiments to deliver mRNA to cells surrounding wounds in diabetic mice. Wounds healed faster in MCM-treated mice, and cells in related experiments showed much more efficient pickup of the mRNA molecules than other delivery methods.

The researchers described their findings today in the journal Science Advances.

In a healthy cell, DNA is transcribed into mRNA, and mRNA serves as the instructions the cells machinery uses to make proteins. A strip of mRNA created in a lab can be substituted into the process to tell a cell to make something new. If that something is a certain kind of antigen, a molecule that alerts the immune system to the presence of a potentially harmful virus, the mRNA has done the job of a vaccine.

The UWMadison researchers coded mRNA with instructions directing cell ribosomes to pump out a growth factor, a protein that prompts healing processes that are otherwise slow to unfold or nonexistent in the diabetic mice (and many severely diabetic people).

mRNA is short-lived in the body, though, so to deliver enough to cells typically means administering large and frequent doses in which the mRNA strands are carried by containers made of molecules called cationic polymers.

Oftentimes the cationic component is toxic. The more mRNA you deliver, the more therapeutic effect you get, but the more likely it is that youre going to see toxic effect, too. So, its a trade-off, Murphy says. What we found is when we deliver from the MCMs, we dont see that toxicity. And because MCM delivery protects the mRNA from degrading, you can get more mRNA where you want it while mitigating the toxic effects.

The new study also paired mRNA with an immune-system-inhibiting protein, to make sure the target cells didnt pick the mRNA out as a foreign object and destroy or eject it.

Successful mRNA delivery usually keeps a cell working on new instructions for about 24 hours, and the molecules they produce disperse throughout the body. Thats enough for vaccines and the antigens they produce. To keep lengthy processes like growing replacement tissue to heal skin or organs, the proteins or growth factors produced by the cells need to hang around for much longer.

What weve seen with the MCMs is, once the cells take up the mRNA and start making protein, that protein will bind right back within the MCM particle, Murphy says. Then it gets released over the course of weeks. Were basically taking something that would normally last maybe hours or even a day, and were making it last for a long time.

And because the MCMs are large enough that they dont enter the bloodstream and float away, they stay right where they are needed to keep releasing helpful therapy. In the mice, that therapeutic activity kept going for more than 20 days.

They are made of minerals similar to tooth enamel and bone, but designed to be reabsorbed by the body when theyre not useful anymore, says Murphy, whose work is supported by the Environmental Protection Agency, the National Institutes of Health and the National Science Foundation and a donation from UWMadison alums Michael and Mary Sue Shannon.

We can control their lifespan by adjusting the way theyre made, so they dissolve harmlessly when we want.

The technology behind the microparticles was patented with the help of the Wisconsin Alumni Research Foundation and is licensed to Dianomi Therapeutics, a company Murphy co-founded.

The researchers are now working on growing bone and cartilage and repairing spinal cord injuries with mRNA delivered by MCMs.


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Podcast: Let the light shineTackling eye disease with gene therapy – Genetic Literacy Project

In this episode, supported by the UK Medical Research Council, geneticist Kat Arney and reporter Georgia Mills explore how researchers are letting the light shine in, literally, by uncovering the underlying genetic faults that cause eye diseases and developing game-changing gene therapies to save sight.

Mills speaks with sight loss charity campaigner and fundraiser Ken Reid about his experiences of living with the genetic eye condition Retinitis Pigmentosa (RP)a hereditary disease that causes the gradual degeneration of light-sensitive cells in the back of the eye. He first realized that something was wrong with his sight when he was a party-going teenager in the 1970s.

I always had very poor eyesight and couldnt understand how people could do things in the dark, he says. Most people probably dont remember what discos in the 70s were like, but they were just dark. You had this lovely interaction where it was very noisy, it was very dark and there were some flashing lights. I could see nothing and trying to find somebody to dance with was a real torment. I didnt know how people managed it!

At the MRC Human Genetics Unit in Edinburgh, Chloe Stanton is searching for the gene faults that underpin RP and other hereditary eye diseases, with more than 100 RP genes identified so far. To find out more about what all these genes actually do, her colleague Roly Megaw is growing tiny mini-eyes in the lab from reprogrammed stem cells originally derived from skin samples including one from Reid himself.

Finally, Robin Ali at Kings College London is running clinical trials of gene therapy for inherited eye disorders. Theres been impressive progress in recent years, and Ali is hopeful that treatments will come through for people like Reid.

In the 25 years Ive been working on developing gene therapy for retinal degeneration, weve seen huge advances. I think we couldnt imagine how far we could come. I remember when I first started, we were working out ways to deliver genes to the retina and we were pleased if we saw just one or two cells that had taken up a virus and maybe expressing a gene for a couple of weeks. We are now able to rescue dozens of different animal models highly effectively. Its just a matter of time until this technology can be applied as effectively to humans.

Full transcript, links and references available online at

Genetics Unzippedis the podcast from the UKGenetics Society,presented by award-winning science communicator and biologistKat Arneyand produced byFirst Create the Media.Follow Kat on Twitter@Kat_Arney,Genetics Unzipped@geneticsunzip,and the Genetics Society at@GenSocUK

Listen to Genetics Unzipped onApple Podcasts(iTunes)Google Play,Spotify,orwherever you get your podcasts

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