Category Archives: Genetic Therapy

CAMBRIDGE, Mass., Nov. 02, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced that senior management will participate in a fireside chat at the 29th Annual Credit Suisse Virtual Healthcare Conference on Monday, November 9, 2020 at 3:30 p.m. E.T.

The presentation will be webcast live under the investor relations section of Sareptas website at http://www.sarepta.com and will be archived there following the presentation for 90 days. Please connect to Sarepta's website several minutes prior to the start of the broadcast to ensure adequate time for any software download that may be necessary.

AboutSarepta TherapeuticsAt Sarepta, we are leading a revolution in precision genetic medicine and every day is an opportunity to change the lives of people living with rare disease. The Company has built an impressive position in Duchenne muscular dystrophy (DMD) and in gene therapies for limb-girdle muscular dystrophies (LGMDs), mucopolysaccharidosis type IIIA, Charcot-Marie-Tooth (CMT), and other CNS-related disorders, with more than 40 programs in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. For more information, please visitwww.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Internet Posting of Information

We routinely post information that may be important to investors in the 'Investors' section of our website atwww.sarepta.com. We encourage investors and potential investors to consult our website regularly for important information about us.

Source: Sarepta Therapeutics, Inc.

Sarepta Therapeutics, Inc.Investors:Ian Estepan, 617-274-4052, iestepan@sarepta.com

Media:Tracy Sorrentino, 617-301-8566, tsorrentino@sarepta.com

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Sarepta Therapeutics to Present at the 29th Annual Credit Suisse Virtual Healthcare Conference - GlobeNewswire

When the FDA slapped a rejection on Kala Pharmas dry eye drug last August, the biotechs execs promised investors that a third Phase III study they had already started at that point would reverse their fortune.

Today they made good on that promise, clinching an approval for Eysuvis, an ocular corticosteroid being positioned as a first-line, short term treatment of dry eye disease.

Boasting a technology invented by Bob Langer out of MIT, Eysuvis is a corticosteroid, loteprednol etabonate, delivered by mucus-penetrating particles. It promises to enhance penetration into target tissue on the ocular surface, achieving an effect quicker than systemic corticosteroids and stronger than over-the-counter eye drops.

Kala, with $159.1 million in cash, cash equivalents and short-term investments that it expects to last until Q3 of 2022, expects to launch the drug by years end pending some final touches on the salesforce (125 reps to start with) and manufacturing.

The top team, led by CEO Mark Iwicki, has repeatedly emphasized that the market is huge yet untapped, with just a few prescription drugs available in the category. One of them, Shires Xiidra, was bought by Novartis for $3.4 billion upfront.

Heres Iwicki from an earnings call in August:

Over 30 million people in the United States live with dry eye disease, of which over 17 million have already been diagnosed by an eye care professional.

Our market research suggests that 80% to 90% of these patients suffer from episodic flares rather than continuous symptoms, and feedback from eye care professionals suggest that these flares are will be under-managed by current therapies.

In a note from September, Jefferies analyst Biren Amin wrote that steroids are commonly prescribed off-label for flares but risks of elevated intraocular pressure discourage non-corneal specialists from doing so.

Data from STRIDE3, the final Phase III study that finally satisfied regulators, suggested that Eysuvis induced a statistically significant improvement in ocular discomfort severity over placebo.

Doctors Amin spoke to see the opportunity for it to be adopted by corneal specialists and should remove the barrier for non-corneal specialists to prescribe a steroid type treatment for DED flares.

Continue reading here:
Once rejected, Kala's dry eye drug now gains entry to a field where Novartis is grooming its own blockbuster - Endpoints News

A new therapy being developed to help restore vision to people who are blind could be used within years.

The treatment involves a "relatively simple" injection into the eye and is a "relatively straightforward surgery".

That's according to John Flannery, a Professor of Neurobiology in the Department of Molecular and Cell Biology at the University of Berkeley and a member of the Medical and Scientific Advisory Board for Fighting Blindness Ireland.

He told Futureproof with Johnathan McCrea how blindness develops in some people and how his research will attempt to remove the disease from patients.

His startup company has recently been bought by Novartis and they will partner to develop the treatment.

Professor Flannery said "the hope is for some patients, they'll get a significant increase in their vision".

He added that "manufacturing enough of the treatment is not doing to be that difficult".

In explaining how blindness develops in some people, Professor Flannery said "almost all the inherited blindnesses occur over time".

He said: "The gene defect you have when you're born, and depending on what you inherit, it can manifest as a small child or sometimes not until you're a teenager and some conditions, likemacular degeneration, not until you're 50 or 60."

Professor Flannery said technology is been tested to get the eye to see something when there's no biological retina, but that its success is a long time away.

He said: "There have been some attempts to connect a video camera to the patient's brain in patients that are completely blind.

"That's been incredibly challenging because we know quite a bit about how the retina works but we don't know much about it encodes the signal.

"That will be quite a bit off until we have an electronic prosthetic.

"Nobody, in my knowledge, has been able to interpret the signals coming out of the eye and understanding what the picture is."

Professor Flannery said his research on how to develop therapies for blind patients starts out on testing with animals such as mice.

He said that the current treatments available to patients are for those who have recessive conditions, meaning they got the gene from both of their parents, which continues much of his work.

Professor Flannery explained how the therapy aimed to cure blindness would work.

He said: "The progress in the field has been to use the shell of the virus, the outside coat of the virus.

"We use a very different virus for the eye that's never been shown to cause disease, we put in a copy of the gene that the patient has a defect in.

"We use the virus shell to carry the DNA and protect it and that virus will carry the DNA into the retinal shells and that's a one time only repair."

He said that the virus contains a "zip-code" which controls which cells have the therapeutic gene.

Professor Flannery added: "It's a question of scale, a normal human has 150 million photoreceptors, which are the ones that are affected in these conditions.

"You can inject with a very small volume many hundreds of million virus particles."

Professor Flannery said that an experiment showed that blind mice were able to move around and explore as much as other mice.

He said: "In a couple of the therapies that are currently in the clinic, the patients have to be treated as quickly as possible because their photoreceptor cells are dying and if you get to the stage where theirphotoreceptors have died, the gene in the cell is gone.

"The therapy that we're trying to develop, which is called optogenetics, is for patients at the very late stages of blindness.

"What we're doing is capitalising on the knowledge that the photoreceptors talk to other cells in the retina that aren't light-sensitive

"Our gene therapy is designed to add light sensitively to the third cell in this chain between the damaged photo and the brain.

"Since it's in the middle, if you can make that cell light-sensitive, that's a new opportunity for restoring vision in the blind.

Professor Flannery said this treatment is "particularly appealing because you could treat someone at any age or any stage".

He said: "Because unlike the other therapies where you have to identify the exact genetic defect in the patient and put that exact gene back, this is putting a light-sensitive function in a different cell.

"It doesn't require you to know what the defect is in the patients."

Professor Flannery said they would begin to start testing the therapy in small groups of patients shortly after successful trials in dogs.

You can listen back to the full interview here:

'Relatively simple' therapy could help cure blindness

00:00:00 / 00:00:00

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'Relatively simple' therapy could help cure blindness - Newstalk

Babies born with a faulty maternal copy of the UBE3A gene will develop Angelman syndrome, which currently has no cure, and has only limited treatments. Now, scientists have shown that gene editing and gene therapy techniques can be used to restore the UBE3A in human neuron cultures and treat deficits in an animal model of Angelman syndrome.

The study, led by senior author Mark Zylka, PhD, Director of the UNC Neuroscience Center and W.R. Kenan, Jr. Distinguished Professor of Cell Biology and Physiology, has been published in the journal Nature, and lays important groundwork for a long-lasting treatment or cure for this debilitating disease, as well as a therapeutic path forward for other single-gene disorders.

Angelman syndrome is caused by a deletion or mutation of the maternal copy of the gene that encodes the ubiquitin protein ligase E3A (UBE3A). The paternal copy of UBE3A is typically silenced in neurons, so the loss of maternal UBE3A results in a complete absence of the UBE3A enzyme in most areas of the brain. This enzyme targets proteins for degradation, a vital process that maintains normal function of brain cells.

When that process malfunctions, the result is Angelman syndrome, a brain disorder with symptoms that include severe intellectual and developmental disabilities, seizures, and problems with speech, balance, movement, and sleep.

Our study shows how multiple symptoms associated with Angelman syndrome could be treated with a CRISPR-Cas9 gene therapy, Zylka said. And we are now pursuing this with help of clinicians at UNC-Chapel Hill. Turning on the paternal copy of UBE3A is an attractive therapeutic strategy because it could reverse the underlying molecular deficiency of the disease.

However, the paternal gene is silenced by a long strand of RNA, produced in the antisense orientation to UBE3A, which blocks production of the enzyme from the paternal copy of the gene.

Members of the research team set out to devise a way to use CRISPR-Cas9 to restore the UBE3A enzyme to normal levels by disrupting the antisense RNA.

The team used an adeno-associated virus (AAV) gene therapy to deliver the Cas9 protein throughout the brain of embryonic mice that model Angelman syndrome. Because UBE3A is essential for normal brain development, early treatment is crucial.

The researchers found that embryonic and early postnatal treatment rescued physical and behavioural phenotypes found in Angelman syndrome patients, finding that a single neonatal injection of AAV unsilenced paternal UBE3A for at least 17 months. The data suggests this effect is likely to be permanent, and the researchers also demonstrated that this approach was effective in human neurons in culture.

Zylka said: No other treatments currently being pursued for Angelman syndrome last this long, nor do they treat as many symptoms. I am confident others will eventually recognise the advantages of detecting the mutation that causes Angelman syndrome prenatally and treating shortly thereafter.

The researchers are now focussing on refining an approach that will be suitable for use in humans.

Identifying Angelman syndrome

Using brain imaging and behaviour observations, the Zylka lab will now collaborate with researchers at the Carolina Institute for Developmental Disabilities (CIDD) to identify symptoms in babies that have the genetic mutation that causes Angelman syndrome.

Zylka said: The idea is to use genetic tests to identify babies that are likely to develop Angelman syndrome, treat prenatally or around the time of birth, and then use these early symptoms as endpoints to evaluate efficacy in a clinical trial.

Our data and that of other groups clearly indicates that prenatal treatment has the potential to prevent Angelman syndrome from fully developing.

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Is CRISPR gene therapy for rare Angelman Syndrome on the horizon? - Health Europa

Find out which biopharma companies are raking in the cash this week, as companies from around the globe provide updates on their financing rounds and IPOs.

Foghorn Therapeutics

Foghorn boomed onto the NASDAQ with a $120 million IPO, surpassing its original expectations by $20 million. The Massachusetts-based biotech is investing in their proprietary Gene Traffic Control system, which tells the cells when to express which genes where and in what order within the chromatin regulatory system. The company currently has over 10 programs in its pipeline. Foghorn is anticipating filing an IND later this year for its lead candidate to begin a Phase I trial for the treatment of uveal melanoma, a cancer of the eye.

Scorpion Therapeutics

Scorpion Therapeutics aims to put the sting in cancer with a $108 million launch to pursue what they call precision oncology 2.0. The company plans to tackle the existing challenges of precision medicine with a three-prong approach developing better medicines for known cancer-driving mutations, developing drugs for targets previously thought to be undruggable, and finding new, untapped targets that could lead to even better drugs. Scorpion is focused on advancing several pipeline programs toward the clinic, while working on identifying new targets. We envision this being a robust pipelineits not about one or two programs, said Lina Gugucheva, Scorpion's chief business officer. Once were in the clinic, we will continue to add multiple programs into the clinic with no rate abatement, or speed abatement, in the next five- to 10-year horizon.

AavantiBio

Former Sarepta Therapeutics executive Bo Cumbo left to launch his new gene therapy company, AavantiBio, with a $107 million Series A. AavantiBios strategic partnership with University of Floridas Powell Gene Therapy Center provide their foundational research in rare genetic disorders. The company's lead program is aimed at Friedrichs Ataxia, a rare inherited genetic disease that causes cardiac and central nervous system dysfunction. AavantiBio has a unique opportunity to change the lives of those living with FA and other rare diseases, Cumbo said. Central to our mission is building on the advancements in gene transfer therapies and harnessing these revolutionary technologies to realize their potential as life-altering medicines.

Sirnaomics

An oversubscribed Series D will help biopharma company Sirnaomics' continued development of novel RNAi therapeutics to treat a range of disorders including cancers, fibrosis, metabolic diseases and viral infections. The $105 million round was co-led by existing investor Rotating Boulder Fund, and new investors Walvax Biotechnology and Sunshine Riverhead Capital. Sirnaomics is the only biopharma conducting R&D and clinical development in the field of RNAi therapeutics in both the U.S. and China. In April they saw positive results for their Phase IIa test of candidate STP705 in squamous cell carcinoma. They are preparing for an IPO in the near future.

Be Biopharma

Be Bio is a leader in developing B cells as medicines. B cells are prolific protein producers that can be collected from peripheral blood, have a programmable lifetime that could last decades, can target specific tissues, and have customizable functionality. Be Bio plans to use their $52 million Series A to precisely engineer B cells to treat a range of diseases. Our mission is to develop what we see as a new class of cell medicines that have a broad new pharmacology, Aleks Radovic-Moreno, Ph.D., said of B cells potential. We think it's a big new white space that's enabled by the rich biology of these cells.

Orbus Therapeutics

An expanded Series A will support Orbus ongoing STELLAR study, a Phase III clinical trial studying eflornithine in patients with anaplastic astrocytoma, a type of brain tumor, whose cancer has recurred following radiation and adjuvant chemotherapy. The $71 million funding includes an initial financing of $32.5 million in 2015. In the U.S., more than 3,600 new cases of anaplastic glioma are diagnosed each year with a median survival of just over three years despite treatment. The STELLAR studys primary endpoint is duration of overall survival in the 340 patients they plan to enroll.

Primmune Therapeutics

Primmune aims to advance the development of their novel orally-administered, small molecule toll-like receptor 7 agonists as therapeutic-adjuvants for acute viral diseases and cancer. The company's $27.4 million Series A gives it the capital to take their PRTX007 candidate into a short-term pharmacokinetic, pharmacodynamic and tolerability study, followed by a clinical proof-of-concept in an acute viral disease setting. Primmune's early data shows the potential for PRTX007 to drive the natural innate immune response to combat systemic diseases.

Prokarium

Privately-held Prokarium closed a $21 million Series B led by Korea Investment Partners with participation from the UK governments Future Fund, Flerie Invest and Riyadh Valley Company. The funds will be utilized to support the clinical development of Prokariums microbial immunotherapy for non-muscle invasive bladder cancer as well as expansion of its pipeline across multiple solid tumors. The bladder cancer therapy is expected to be in the clinic by 2022. Prokarium added Hyam Levitsky, MD, to its Board of Directors and strengthened the executive team with the following promotions: Kristen Albright, PharmD to COO, Livija Deban, Ph.D., to VP of Research and Peter McGowan, FCCA, as CFO.

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Biopharma Money on the Move: October 21-27 - BioSpace

Bristol Myers Squibb is turning to one of the star upstarts in the machine learning world to go back to the drawing board and come up with the disease models needed to find drugs that can work against two of the toughest targets in the neuro world.

Daphne Kollers well-funded insitro is getting $70 million in cash and near-term milestones to use their machine learning platform to create induced pluripotent stem cell-derived disease models for ALS and frontotemporal dementia.

Then theyll use those insights to start building new drugs for those two ailments; a complex, ground-up approach that has already won a close alliance with Gilead.

Success would trigger up to $2 billion in milestones, running a gamut of research and commercial goals.

We believe that machine learning and data generated by novel experimental platforms offer the opportunity to rethink how we discover and design novel medicines, said Richard Hargreaves, the chief of the neuro group at Bristol Myers, who made the leap from Celgene.

Kollers been making great strides with a new technology that has gained immense interest, but still has a long way to go to prove itself as the major players start figuring out how to integrate artificial intelligence and ML into their game plans for drug discovery and development.

As she told me in interviews for the Endpoints 11 awards, the field has been intensely hyped by a slew of new players. From her perspective, the tech holds lots of promise, but theres a tremendous amount of groundwork that has to be done to glean the necessary data for it to work. And it starts with the right disease models.

Ive looked for instance at cellular phenotypes and Ive built a model that aligns those with human clinical outcome: Can I take a group of genetic backgrounds that Ive never seen before and predict clinical outcomes for those patients? That is a confidence building measure. It says I built a disease model that is actually predictive of what we see in humans. By the way, animal models, they dont even get asked that question in a lot of cases, which I find rather shocking.

On top of that, the ex-Stanford professor has been frank about understanding the tech better than drug development, a weakness shes been working on by recruiting top talent from that other side of the R&D dimension. That strategy recently led to the arrival of Merck R&D chief Roger Perlmutter on the board.

Koller told me:

The early days were very challenging, I wont lie. I was also actually new to the spaceTo build something from scratch you need a network, you need to be connected to people that you can recruit, you need to ask advice. When I came into this I had none of that. So it was an incredibly challenging thing to just start from a blank slate in a space where you were a newcomer and figure out even how to go about building a wet lab that I had never built before.

Now shes working with Hargreaves, one of the top neuroscientists in the field, as Koller and her team continue to build up the company.

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Bristol Myers' Richard Hargreaves pays $70M to launch a neurodegeneration alliance with a star player in the machine learning world - Endpoints News