Category Archives: Gene therapy

Vivet Therapeutics and Pfizer Inc. Announce FDA Authorization to Proceed with GATEWAY, the Phase 1/2 Study for VTX-801, Vivets Investigational Gene Therapy for Wilson Disease

PARIS, France and NEW YORK, N.Y.November 18, 2020 Vivet Therapeutics (Vivet), a privately held gene therapy biotech company dedicated to developing treatments for inherited liver disorders with high unmet medical need, and Pfizer Inc. (NYSE: PFE) announced today that the U.S. Food and Drug Administration (FDA) has cleared Vivets Investigational New Drug (IND) application for the GATEWAY study, a Phase 1/2 clinical trial evaluating Vivets proprietary, investigational gene therapy vector, VTX-801, for the potential treatment of Wilson disease (WD), a rare and potentially life-threatening liver disorder. The trial is expected to commence in early 2021.

We are pleased to announce Vivets first IND clearance by the FDA, which is for our GATEWAY Phase 1/2 study for VTX-801, said Jean-Philippe Combal, CEO and Co-Founder of Vivet. This is a very important milestone for the Wilson disease community for whom VTX-801 could bring significant potential therapeutic benefit. VTX-801 aims to restore copper homeostasis and the GATEWAY trial will measure relevant biomarkers to evaluate physiological restoration of copper elimination and transport in patients. We look forward to advancing VTX-801 into the clinic in early 2021.

VTX-801 is a novel, investigational rAAV-based gene therapy vector designed to deliver a miniaturized ATP7B transgene encoding, a functional protein that has been shown to restore copper homeostasis, reverse liver pathology and reduce copper accumulation in the brain of a mouse model of Wilson disease. VTX-801s rAAV serotype was selected based on its demonstrated tropism for transducing human liver cells.

In March 2019, the companies announced that Pfizer had acquired a minority equity interest in Vivet and secured an exclusive option to acquire all outstanding shares. In September 2020, Vivet and Pfizer announced the signing of an agreement for the manufacture by Pfizer of the VTX-801 vector for the GATEWAY study.

The FDA clearance of Vivets IND marks an important milestone for the VTX-801 program, which we believe has the potential to become a transformational therapy for people with Wilson disease, said Seng Cheng, Chief Scientific Officer, Rare Disease Research Unit, Pfizer. Pfizer has begun manufacturing clinical material for the GATEWAY study and look forward to the studys commencement.

This IND is a recognition of the expertise of Vivets research team led by our CSO and Co-Founder, Dr. Gloria Gonzlez-Aseguinolaza, research collaborations, notably with la Fundacin para la Investigacin Mdica Aplicada (FIMA), and experienced development team. We believe that our global development expertise, together with our collaboration with Pfizer, places us in a strong position to rapidly execute and bring this potentially transformational therapy to patients with high unmet medical needs, added Jean-Philippe Combal.

About GATEWAY - Phase 1/2 Clinical Trial of VTX-801 in Wilson disease

The GATEWAY trial is a multi-center, non-randomized, open-label, Phase 1/2 clinical trial designed to assess the safety, tolerability and pharmacological activity of a single intravenous infusion of VTX-801 in adult patients with Wilson disease, prior to and following background WD therapy withdrawal.

Six leading centers in the United States and Europe are expected to participate in the GATEWAY Phase 1/2 trial. The trial is expected to enroll up to sixteen adult patients with Wilson disease and will evaluate up to three doses of VTX-801. Patients will participate in a pre-dosing observational period and will be administered a prophylactic steroid regimen.

The primary endpoint of the GATEWAY trial is to assess the safety and tolerability of VTX-801 at 52 weeks after a single infusion. Additional endpoints include changes in disease-related biomarkers, including free serum copper and serum ceruloplasmin activity, as well as radiocopper-related parameters and VTX-801 responder status to allow standard-of-care withdrawal.

Vivet Therapeutics expects to enroll the first patient in early 2021.

More details on:

https://clinicaltrials.gov/ct2/show/NCT04537377?term=VIVET&draw=2&rank=1

About Vivet Therapeutics

Vivet Therapeutics is an emerging biotechnology company developing novel gene therapy treatments for rare, inherited metabolic diseases.

Vivet is building a diversified gene therapy pipeline based on novel recombinant adeno-associated virus (rAAV) technologies developed through its partnerships with, and exclusive licenses from, the Fundacin para la Investigacin Mdica Aplicada (FIMA), a not-for-profit foundation at the Centro de Investigacin Medica Aplicada (CIMA), University of Navarra based in Pamplona, Spain.

Vivets lead program, VTX-801, is a novel investigational gene therapy for Wilson disease which has been granted Orphan Drug Designation (ODD) by the Food and Drug Administration (FDA) and the European Commission (EC). This rare genetic disorder is caused by mutations in the gene encoding the ATP7B protein, which reduces the ability of the liver and other tissues to regulate copper levels causing severe hepatic damages, neurologic symptoms and potentially death.

Vivets second gene therapy product, VTX-803 for PFIC3, received US and European Orphan Drug Designation in May 2020.

Vivet is supported by international life science investors including Novartis Venture Fund, Roche Venture Fund, HealthCap, Pfizer Inc., Columbus Venture Partners, Ysios Capital, Kurma Partners and Idinvest Partners.

Please visit us on http://www.vivet-therapeutics.com and follow us on Twitter at @Vivet_tx and LinkedIn.

About Pfizer: Breakthroughs That Change Patients Lives

At Pfizer, we apply science and our global resources to bring therapies to people that extend and significantly improve their lives. We strive to set the standard for quality, safety and value in the discovery, development and manufacture of health care products, including innovative medicines and vaccines. Every day, Pfizer colleagues work across developed and emerging markets to advance wellness, prevention, treatments and cures that challenge the most feared diseases of our time. Consistent with our responsibility as one of the world's premier innovative biopharmaceutical companies, we collaborate with health care providers, governments and local communities to support and expand access to reliable, affordable health care around the world. For more than 170 years, we have worked to make a difference for all who rely on us. We routinely post information that may be important to investors on our website at http://www.Pfizer.com. In addition, to learn more, please visit us on http://www.Pfizer.com and follow us on Twitter at @Pfizer and @Pfizer News, LinkedIn, YouTube and like us on Facebook at Facebook.com/Pfizer.

Pfizer Disclosure Notice

The information contained in this release is as of November 18, 2020. Pfizer assumes no obligation to update forward-looking statements contained in this release as the result of new information or future events or developments.

This release contains forward-looking information about Vivet Therapeutics (Vivet) investigational gene therapy, VTX-801, and Pfizers collaboration with Vivet on the development of VTX-801, including their potential benefits, that involves substantial risks and uncertainties that could cause actual results to differ materially from those expressed or implied by such statements. Risks and uncertainties include, among other things, risks related to the ability to realize the anticipated benefits of the collaboration, including the possibility that the expected benefits from the collaboration will not be realized or will not be realized in the expected time; the uncertainties inherent in research and development, including the ability to meet anticipated clinical endpoints, commencement and/or completion dates for our clinical trials, regulatory submission dates, regulatory approval dates and/or launch dates, as well as the possibility of unfavorable new clinical data and further analyses of existing clinical data; the risk that clinical trial data are subject to differing interpretations and assessments by regulatory authorities;whether regulatory authorities will be satisfied with the design of and results from the clinical studies; whether and when any applications may be filed in any jurisdiction for VTX-801; whether and when any such applications may be approved by regulatory authorities, which will depend on myriad factors, including making a determination as to whether the products benefits outweigh its known risks and determination of the products efficacy and, if approved, whether VTX-801 will be commercially successful; decisions by regulatory authorities impacting labeling, manufacturing processes, safety and/or other matters that could affect the availability or commercial potential of VTX-801; uncertainties regarding the impact of COVID-19 on Pfizers business, operations and financial results;and competitive developments.

A further description of risks and uncertainties can be found in Pfizers Annual Report on Form 10-K for the fiscal year ended December 31, 2019 and in its subsequent reports on Form 10-Q, including in the sections thereof captioned Risk Factors and Forward-Looking Information and Factors That May Affect Future Results, as well as in its subsequent reports on Form 8-K, all of which are filed with the U.S. Securities and Exchange Commission and available atwww.sec.govandwww.pfizer.com.

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Vivet Therapeutics and Pfizer Inc. Announce FDA Authorization to Proceed with GATEWAY, the Phase 1/2 Study for VTX-801, Vivet's Investigational Gene...

While the US Food and Drug Administration (FDA) is still receiving investigational new drug applications (INDs) for cell and gene therapies, officials are concerned about the impact of the COVID-19 pandemic on clinical trials.Its clear that COVID-19 has adversely affected all aspects of development of cell and gene therapies, said Peter Marks, director of FDAs Center for Biologics Evaluation and Research (CBER), said at the Alliance for Regenerative Medicines Meeting on the Mesa. For some of the studies that are ongoing there are some real challenges to overcome in terms of endpoints that may have been missed.The pandemic also has disrupted global harmonization efforts around gene therapies, Marks said.We were on the cusp, in fact, working with global regulators trying to get towards more harmonization of gene therapy programs in different countries, he said. Were trying to keep it moving but its a challenge to do.Marks noted that before COVID-19 he spent about 75% of his time on cell and gene therapies, but the pandemic has forced him to shift priorities. Some things have less policy demands at this point in time. At this point in time its very much reversed and its probably 80% of my time on COVID-related activities.Marks also noted that CBERs Office of Tissues and Advanced Therapies (OTAT) has been struggling to keep up with its workload even before the pandemic. With the influx of applications for cell and gene therapies over the last five years, Marks said the office, Should have doubled in size and its only modestly larger, 15-20% larger in size.Marks said he is not satisfied with the level of dialogue the agency has been able to have with gene therapy developers. Especially early on, we should be able to have this dialogue that really facilitates setting things up well so that our knowledge of the entire fieldwe help leverage that for every sponsor.Weve been so strapped in terms of personnel that its hard to do that, Marks said, noting that COVID-19 has exacerbated things even further. Because the number of gene therapy applications hasnt fallen off dramatically, some of the trials may not be moving as quickly, but the applications keep coming in. Marks said that OTAT has also had to shift priorities during the pandemic and that he hopes the next user fee cycle will bring in the resources necessary to staff up further.Speaking on a separate panel with members of industry, OTAT Director Wilson Bryan echoed Marks sentiment.We were stretched thin before the pandemic, and with the flood of work that came in, it really had an impact, he said. Sometimes folks dont like to admit this, but we all know weve had delayed meetings, weve had to delay review of some applications because of giving priority to the pandemic.However, Bryan said the office is getting its balance and is working to catch up on some of its delayed activities.Bryan expressed some worry about the financial well-being of some of the smaller companies his office works with. Were hearing a lot about their struggles to stay afloat and continue and finish off their development programs and whether or not those development programs are going to be sufficient to meet regulatory standards, he said.One of the challenges, said Timothy Schroeder, CEO of CTI Clinical Trial & Consulting, will be dealing with gaps in data from clinical trials. The question is going to be how do sponsors, how do regulatory authorities and how do companies such as ourselves fill those gaps?On the regulator side, Bryan said his office is working with companies on an individual basis to sort out those issues, which differ from one indication to the next.Bryan added that one positive to come of the pandemic is greater interest in remote outcome assessments in clinical trials. If we have an energy now to develop outcome measures and validate outcome measures that allow us to reliably capture information from patients in remote locations, that will ultimately facilitate development, he said.The pandemic also has significantly disrupted FDAs ability to conduct surveillance and preapproval inspections. While the agency has resumed some domestic inspections and mission-critical foreign inspections, it also is leveraging other sources of information, including inspection reports from other regulators, and requesting documents from applicants and facilities in lieu of on-site inspections where possible. (RELATED: FDA issues pandemic inspections FAQ guidance, Regulatory Focus 19 August 2020).Were considering virtual inspections, particularly for companies where the site has a track record, but if its a site that is brand new with no track record or if its a site with that has a bad track record, were hesitant to do that, Bryan said.Bryan also raised the prospect of FDA inspectors tagging along remotely for an inspection being conducted by other regulators. Is it possible that we could have an inspection by European inspectors and have US regulators going along for a virtual inspection at the same time? We think about those things, I dont know that weve done them yet, Bryan said, adding that he is not sure whether FDA inspectors would be comfortable with the information they would get.Curran Simpson, chief operations and technology officer at REGENXBIO, said he sees promise in virtual audits and believes the level of documentation a site provides can be indicative of its compliance.How often have I walked into a manufacturing facility thats well-run but has terrible documentation? Almost never. I think virtual audits, if you do a risk-based approach and the audit partner has the ability to send documentation in an efficient way and you have experienced people doing this, I think youre going to get the same flavor of an audit very quickly from the level of the documentation, he said.Of course, youll want to accompany that to the extent possible with imaging of the facility, Curran said, To see if those practices are being followed, the overall cleanliness of the facility and the management of material movement If you dont get a good impression from the documentation that youre working through, its probably a bigger issue that you want to escalate.Amy DuRoss, co-founder and CEO of Vineti, an enterprise software company specializing in advanced therapies, expressed some doubts about the current potential for fully remote audits.Certainly our piece of the chain because were enterprise software is readily auditable remotely, but I would say that the overall system and in manufacturing, Im not sure weve evolved as a species yet to adapt our remote techniques to get a full picture I dont think were there yet, she said.

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FDA officials, experts discuss impact of COVID-19 on cell and gene therapies - Regulatory Focus

Gene therapies are some of the hottest areas of investment in the biotech world, as are artificial-intelligence-assisted research methodologies, and Dynos right there at the intersection of these two things, Dyno CEO Eric Kelsic said.

Potential partners have been trying to get in on the action since the company's founding two years ago. Now, Cambridge, Massachusetts-based Dyno unveils its third partnership in the last five months: a pact with Roche and its Spark Therapeutics unit to develop central nervous system (CNS) and liver-directed gene therapies.

All told, the deal could exceed $1.8 billion in clinical and sales milestones, but the companies kept mum on how much Dyno's getting in an upfront fee and research funding.

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A big challenge with gene therapies is ensuring the payloads are delivered effectively and safely via their delivery vehicles. Traditionally, adeno-associated virus(AAV) vectors have limitations because they are difficult to manufacture, can only carry a limited payload and can only target certain tissue types. What's more, gene therapies delivered by AAV may not work in people who have developed a natural immunity to this type of virus.

The second challenge lies in the creation of new capsids, or the protein shell that coats viral vectors and targets cells.

There's this analogy of the protein universe. And capsids are like stars in the galaxy; most of the space is empty. We would like to find the most interesting areas to have the best capsids for in vivo gene therapy, but the space is so large that it can't search it all, Kelsic said.

Thats where Dynos AI-powered approach comes in. We do experiments to gather information about that space, then using machine learning, we build an app, and using those machine learning models, we navigate to the most interesting areas of that space, say the galaxies or the certain solar systems, which have the most interesting stars for gene therapy, he said.

RELATED: Novartis, Sarepta tap Dyno to unearth new gene therapy vectors

The partnership will play to each organizations strengths, Kelsic said, with Dyno focusing on designing, developing, testing and validating capsids using AI, and Roche and Spark adding their own payloads, advancing development and commercializing the gene therapies.

Now, with its third partnership under its belt, Dyno is working in the four areas where theres the most activity in gene therapy according to Kelsic: CNS and liver disorders with Roche, eye disorders with Novartis and muscle disorders with Sarepta Therapeutics.

As for whats next for Dyno, the company has already started the work of designing experiments for both the CNS and liver and is continuing to build its team, which has already grown from 20 to 40 employees over the last five months in what Kelsic calls a hyper-growth trajectory.

We've been making significant progress both in terms of building the team and building the platform, he said, but also building up these technologies, these tools, and applying them against a really challenging, but important problem.

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Dyno, Roche to tackle CNS, liver disease in gene therapy deal worth up to $1.8B - FierceBiotech

The drug discovery pipeline can take, on average, a decade to get from the lab to the patient. Ori Biotech aims to speed up the innovation of cell and gene therapies via the manufacturing platform it is bringing to market.

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The London and Woodcliff Lake, New Jersey-based company is developing a platform that closes, automates and standardizes manufacturing for cell and gene therapy developers so they can move their treatments from the pre-clinical process through to scale commercially.

These products are super expensive to manufacture, and even with the biggest good manufacturing practices in place, you couldnt do beyond a few thousand doses, Farlan Veraitch, Ph.D., co-founder and chief scientific officer at Ori Biotech, told Crunchbase News. We are using our novel automation to reduce the cost of goods and the footprint. Producing hundreds of thousands of doses per year is impossible right now, but with Ori you will be able to do it.

Helping the company get its platform on the market is a new $30 million Series A round of funding led by Northpond Ventures, with participation from Octopus Ventures and Oris existing institutional investors: Amadeus Capital Partners, Delin Ventures and Kindred Capital. The new funding gives Ori Biotech a total of $40 million in funding since its inception in 2015, including a $10 million seed round in 2018, Veraitch said.

In addition to taking the platform to the market, estimated to be in late 2021 or early 2022, the company expects to double its employee count in the next four months and double that again by next year. Currently, the company has eight employees, including its first two in the U.S.

The company has been working with external partners over the past four months doing testing. One partner is already getting good results from testing the platform on its treatment for solid tumors, Ori Biotechs CEO Jason Foster said in an interview.

We are hoping to grow our external partnerships from three to six in the next year, Foster added.

Meanwhile, the company is addressing a $9 billion market that has 1,500 gene therapy clinical trials going on in cancer, diabetes and rare diseases. There are approximately eight approved products, and most are in pre-clinical or Phase 1 testing, he said.

Sharon Kedar, co-founder and partner at Northpond Ventures, said in an interview that Veraitch is obsessed with how cell and gene therapies need to be brought to market.

Northpond looked at a lot of companies in this space, and thought the Ori Biotech team and modular approach was differentiated and had the opportunity to change how these therapies are made.

Farlan and Jason are phenomenal humans doing critical work, she said. Globally speaking, the health care system is broken, and the cost of developing drugs is outpacing the ability to pay for them. Now you can treat someone on a personalized basis without the cost burden, and Ori has a chance to be that solution.

Illustration: Li-Anne Dias

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Exclusive: Ori Biotech To Use $30M Series A On Cell, Gene Therapy Manufacturing Platform - Crunchbase News

Roche has signed a collaborative agreement with Dyno Therapeutics for the development of adeno-associated virus (AAV) vectors for gene therapies for central nervous system (CNS) disease and liver-directed therapies.

Under the terms of the agreement, Dyno will design novel AAV capsids with improved functional properties for gene therapies, while Roche and its subsidiary Spark Therapeutics will be responsible for preclinical, clinical and commercialisation activities for gene therapy product candidates using the novel capsids.

Roche will pay Dyno an undisclosed upfront payment, as well as additional payments during the research phase of the collaboration.

In addition, Dyno is eligible to receive clinical and sales milestone payments and royalties for any resulting products, with all of these payments potentially exceeding $1.8bn.

Dynos CapsidMap platform is used to identify novel AAV capsids the cell-targeting protein shell of viral vectors optimising tissue targeting and immune-evading properties, in addition to improving packaging capacity and manufacturability.

We strongly believe in the potential of gene therapy and are excited to bring together experts from Roche, Spark and Dyno to develop next-generation gene therapies, said James Sabry, head of Roche Pharma Partnering.

Dynos innovative AI-powered approach to designing optimized AAV vectors will further complement and build on our progress in gene therapy. We look forward to leveraging Dynos technology to develop new, innovative treatments for patients across CNS and liver-directed therapies, he added.

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Roche signs deal with Dyno Therapeutics for gene therapy vectors - PharmaTimes

DetailsCategory: DNA RNA and CellsPublished on Friday, 16 October 2020 13:44Hits: 238

- Study targets a chronic autoimmune skin disorder affecting approximately 50,000 patients in the U.S. -

EXTON, PA, USA I October 15, 2020 I Castle Creek Biosciences,Inc, a privately-held, clinical-stage cell and gene therapy company leveraging its proprietary fibroblast technology platform to develop and commercialize innovative personalized therapies for underserved disorders with high unmet medical needs,announced that the first adult patient has been dosed in a Phase 1/2 clinical trial evaluating FCX-013, the company's investigational gene therapy, for the treatment of moderate to severe localized scleroderma.

"Dosing the first patient is an important milestone in the clinical development program for FCX-013, which we believe has the potential to be the first therapy to treat excessive collagen deposition at the site of localized scleroderma lesions in the skin and soft tissue," said John Maslowski, Chief Executive Officer of Castle Creek Biosciences. "Our hope is to relieve the debilitating, painful impact of localized scleroderma in patients who currently have limited treatment options."

Localized scleroderma is a chronic autoimmune skin disorder that leads to the excess production of collagen and causes thickening of the skin and connective tissue. In moderate to severe forms of the disorder, patients can experience discomfort, tightness and pain that limits their ability to function. Approximately 50,000 patients in the U.S. have moderate to severe localized scleroderma. Current treatment options include systemic or topical corticosteroids that target inflammation, UVA light therapy, and physical therapy. There are no U.S. Food and Drug Administration (FDA) approved therapies for patients living with this disorder.

"Localized scleroderma may be characterized based on the depth and pattern of lesions, and there are currently few treatment options to address the excessive collagen accumulation in the skin and connective tissue," said Mary Spellman, M.D., Chief Medical Officer of Castle Creek Biosciences. "With our proprietary fibroblast technology, we have an opportunity to develop and evaluate new personalized therapies that are designed for durability and formulated to be compatible with each patient's unique biology."

The open label, single cohort Phase 1/2 clinical trial is evaluating the safety of FCX-013 as its primary objective. Secondary objectives include assessments of fibrosis at targeted sclerotic lesions at various time points through 26 weeks post-administration of FCX-013.The trial will enroll up to 10 patients with moderate to severe localized scleroderma. More information about the Phase 1/2 trial is available at ClinicalTrials.gov and searching the identifier NCT03740724.

Castle Creek Biosciences is manufacturing FCX-013 at its in-house, current good manufacturing practices (cGMP), commercial-scale facility located in Exton, Pennsylvania.

About FCX-013

FCX-013 is Castle Creek Biosciences' investigational gene therapy candidate for the treatment of moderate to severe localized scleroderma. FCX-013 is an autologous fibroblast genetically modified using lentivirus and encoded for matrix metalloproteinase 1 (MMP-1), a protein responsible for breaking down collagen. FCX-013 incorporates a biologic switch activated by an orally administered compound to control protein expression at the site of the localized scleroderma lesions. FCX013 is designed to be injected intradermally at the location of the fibrotic lesions where the genetically-modified fibroblast cells will produce MMP-1 to break down excess collagen accumulation. FCX-013 has been granted Orphan Drug, Rare Pediatric Disease and Fast Track designations by the FDA.

About Castle Creek Biosciences

Castle Creek Biosciences, Inc. is a privately-held, clinical-stage cell and gene therapy company advancing innovative personalized therapies for underserved disorders with high unmet medical needs. The company is using its proprietary fibroblast technology platform to develop D-Fi (debcoemagene autoficel, formerly designated FCX-007), an investigational gene therapy for the localized treatment of wounds in dystrophic epidermolysis bullosa (DEB). The company is also developing FCX-013, an investigational gene therapy for the treatment of moderate to severe localized scleroderma. The company operates an in-house, current good manufacturing practices (cGMP), commercial-scale facility located in Exton, Pennsylvania. Castle Creek Biosciences is a portfolio company of Paragon Biosciences. For more information, visit castlecreekbio.comor follow Castle Creek on Twitter @CastleCreekBio.

About Paragon Biosciences

Paragon is a life science innovator that creates, invests in and builds life science companies in artificial intelligence, cell and gene therapy, synthetic biology and biopharmaceuticals. The company's current portfolio includes Castle Creek Biosciences, Emalex Biosciences, Evozyne, Harmony Biosciences, Qlarity Imaging, Skyline Biosciences, and a consistent flow of incubating companies created and supported by the replicable Paragon Innovation Capital model. Paragon stands at the intersection of human need, life science, and company creation. For more information, please visit https://paragonbiosci.com/.

SOURCE: Castle Creek Biosciences

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Castle Creek Biosciences Announces First Patient Dosed in Phase 1/2 Clinical Trial of FCX-013 Gene Therapy for Treatment of Moderate to Severe...

TORONTO -- For the thousands of Canadians at risk of blindness, eight-year-old Sam is a beacon of hope.

He is the first Canadian to be treated with gene replacement therapy for a rare form of blindness which had left Sam unable to see sky on a cloudy day, and unable to make out shapes in the dark.

Sometimes you have to walk in the night and I couldnt see things and you bump into things, Sam told CTV News.

He had to have lights on always, and had trouble seeing his shoes or objects on the floor. And the condition was progressive, meaning things would get worse as he grew older -- a daunting prospect when there was no treatment available.

But now he can see cloudy skies, shoes and more. The best part of his improved vision, says Sam, are the stars at night.

I never saw stars before, he said. And I also never saw airplanes flying at night.

He was diagnosed after birth with a genetic disorder called retinitis pigmentosa, a form of genetic retinal degeneration resulting from mutations in the RPE65 gene.

You lose perception of light, Dr. Elise Heon, of Sick Kids Hospital, explained to CTV News. You end up in darkness and [its] slowly progressive, it's relentless, your visual field shrinks and shrinks and shrinks and shrinks.

Retinitis pigmentosa (RP) affects between 1 in 3,500 to 1 in 4,000 Canadians, according to Fighting Blindness Canada. It actually refers to a group of disorders, as there are numerous versions of RP depending on which pair of genes are damaged. More than 64 genes have been identified by scientists as potentially having mutations that cause RP.

Now, Canada has approved the first-ever gene replacement therapy for this form of blindness. Sick Kids Hospital has 29 children in its program with this mutation. The drug can be used on children and adults with the condition, but the earlier its used, the more sight it will save, doctors believe.

It's a huge deal, because for these patients before, theres no treatments, Heon said.

She said she had recently met two patients, brothers, who were suffering the same problem as Sam, and for the first time, she was able to provide hope.

They're 10 years old, and they're losing their vision, she said. If we do nothing, they're just going, fine, they'll just end up with no light reception. So for the first time [we were] able to say, well, actually we need to have a discussion. And it was just, it was priceless.

The gene therapy, which goes by the brand name Luxturna, was developed in the U.S by the drug company Spark Therapeutics.

It works by placing a copy of the healthy gene into inactivated viruses, which are then injected into the retina. The gene then allows cells to produce the necessary protein to convert light into an electrical signal in the retina in order to provide healthy vision and prevent progression of the disease.

It is the first targeted gene therapy to be approved by Health Canada, which gave it the all-clear this week.

Back in 2019, Sam and his family travelled to the U.S to get the new gene therapy because it wasnt available in Canada yet.

His mother, Sarah Banon, noticed changes quickly.

About a week later, I noticed he could get dressed by [himself], she said. He could get his shoes on by himself, independently.

His improvements have continued in the year since he first received the gene therapy.

He is so much more confident, his mother told CTV News. Like getting dressed by himself, matching clothes, doesnt have to have things enlarged. Being able to [see], even when its dark outside, no lights on and it is a cloudy day. He would have to, at school, keep the lights on.

Now he is able to function as a normal child.

With the approval of this gene therapy in Canada, doctors are hoping to be able to use it on more patients who qualify -- and the earlier the better.

Dr. Peter Kertes, a vitreo-retinal surgeon and Ophthalmologist-in-Chief at Sunnybrook Health Sciences Centre, told CTV News that the approval of the therapy is fantastic.

This is a huge breakthrough, he said. Most of the advances that we have in medicine are incremental. Every once in a while, once in a generation, something revolutionary like this comes along that really changes the course of therapy.

Luxturna specifically treats individuals with biallelic mutations of the RPE65 gene -- meaning they have mutations in that gene stemming from both parents -- which manifests as either RP or Leber congenital amaurosis (LCA). Its a very small patient group compared to the entirety of Canadians with inherited retinal diseases.

This may be just one gene therapy for one condition, but it will open to the door to this strategy being used in other scenarios, Kertes pointed out.

This is the tip of the iceberg. I think this is a vector that will prove to be very effective and holds great promise, he said. I think many people who are living with blindness or facing blindness, have much to look forward to. I think we're on the cusp of a revolution in this group of diseases.

The company licensing the therapy, Novartis Pharmaceuticals Canada Inc., isnt detailing the cost, but based on the price in the U.S it could top $1.1 million in Canada, making it among the most expensive drugs in the country.

The therapy is currently under review by both the Canadian Agency for Drugs and Technologies in Health (CADTH) and the Institut national dexcellence en sant et en services sociaux (INESSS).

Novartis said in a statement that they look forward to receiving their recommendations following Health Canadas approval.

They said they are eager to help eligible Canadians affected by this rare disease gain access to the first-ever gene replacement therapy as quickly as possible.

The Patented Medicine Prices Review Board will be disclosing their new guidelines in terms of capping drug prices in an online media briefing this Thursday.

As this will likely be the first of many gene replacement therapies -- with similarly high price tags -- Ottawa and the provinces will have to make the decision on whether it will be covered by provincial health plans. The question is an ongoing ethical debate, with some saying that drug companies will only take advantage of it if governments show that they are willing to pay.

Should it be the responsibility for the government to pay for any drug at any price? Marc-Andr Gagnon, a researcher with Carleton University who looks into pharmaceutical policy, told CTV News. The problem is, if we say yes to this question, you can be sure that the day after, all the drugs in the market will be asking for much higher prices.

Its a very expensive drug, Heon acknowledged.

However, she pointed out that this is a rare disease, and its not a recurrent treatment. Its a one-time injection to the eyes.

You treat both eyes and then thats it, she said.

To be able to change someone's life is quite a privilege. And to be able to prevent someone from going blind is a real privilege.

For Sam and his mother, the gift of independence has been priceless.

This is a story of hope, his mother said. A child told it is what it is.

And now, when he looks up at night, he can see stars.

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'I never saw stars before': Gene therapy brings back 8-year-old Canadian boy's sight - CTV News

What You Should Know:

Biotech startup Ori Biotech raises $30M in Series Afunding to scale its cell and gene therapy (CGT) manufacturing platform.

Ori Biotech helps pharmaceutical and biotech companiesdevelop and manufacture cell and gene therapies. Its patented technology aimsto reduce the manufacturing cost of these life-saving treatments by up to 80%,allowing them to be more widely accessible for patients.

Ori Biotech Ltd (Ori),a leading innovator in cell and gene therapy (CGT) manufacturing, todayannounced the successful close of a $30 million Series A financing round,bringing the companys total funding to date to $41 million. The Series A roundwas led by the experienced life sciences investment team at Northpond Ventures, a leading globalscience, medical, and technology-driven venture fund, alongside Octopus Ventures, a leading Europeanventure fund. Northpond and Octopus invested alongside significant support fromOris existing institutional investors, Amadeus Capital Partners, Delin Ventures, and Kindred Capital.

The Future of Cell and Gene Therapy Manufacturing

Founded in 2015 by Dr. Farlan Veraitch and Professor Chris Mason, Ori Biotech is a London and New Jersey-based cell and gene therapy (CGT) manufacturing technology company. Ori has developed a proprietary, flexible manufacturing platform that closes, automates, and standardizes manufacturing allowing therapeutics developers to further develop and bring their products from pre-clinical process development to commercial-scale manufacturing. The mission of the Ori platform is to fully automate CGT manufacturing to increase throughput, improve quality, and decrease costs in order to enable patient access to this new generation of life-saving treatments.

The new funding will be used to help bring Oris innovativemanufacturing platform to the market. The Ori platform delivers scalablesolutions to flexibly address the critical clinical and commercialmanufacturing needs of CGT developers.

Closing a significant Series A round, during these uncertain times, further validates Oris disruptive approach to fully automating cell and gene therapy manufacturing to increase throughput, improve quality, and decrease costs, said Jason C. Foster, CEO of Ori Biotech. We are excited to work with our top tier investors and development partners to bring our platform to market as fast as possible to achieve our mission of enabling patient access to life-saving cell and gene therapies.

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Ori Biotech Lands $30M for Cell and Gene Therapy Manufacturing Platform - HIT Consultant

Perhaps some of the most important contributions to science is the ability to manipulate DNA. A notable discovery is humulin, the genetically modified insulin. By reducing the cost and increasing the safety, the treatment improved the quality of life for millions of patients. Since humulins approval in 1978, hundreds of gene therapy treatments have been approved. Scientists can insert a normal gene to compensate for the defective one an individual was born with.

Over the past few decades, all the developments in gene therapy are countered by religious, ethical, and socioeconomic concerns over its misuse. The most prominent argument against gene therapy is whether we should edit the genes to treat disease. It is often regarded as unnatural and dangerous because we cannot foresee the effects down the line. The idea of picking and choosing your genes leads to comparisons between gene therapy and eugenics. It is important to note that the eugenics movement sought to increase desirable qualities of select races, whereas gene therapy seeks to improve the quality of life for patients.

Current drugs for a lot of diseases merely treat, rather than targeting the source of the illness. The vast majority of diseases have a genetic component. This makes it so critical to continue developing new therapies. People value their health and if gene therapy can improve the lives people would have had, then its worth it. There are therapies for hemophilia, sickle cell anemia, and certain kinds of cancer. If gene therapy is regarded as a form of enhancement, then consider all the other things people do to change themselves: plastic surgery, cosmetic improvements, diet and exercise. Scientists in the United Kingdom have been working to treat mitochondrial diseases by creating three parent embryos. This is a type of in-vitro fertilization that takes a healthy mitochondria from a third parent. Because the mitochondria, usually inherited only from the mother, has its own DNA, it can be said that the child has three parents.

With gene therapies, we are changing the course of evolution. Treating diseases at the level of DNA once seemed like science fiction. With all of the recent advancements in science, it is possible to turn it into a reality. Despite the ethical concerns, the number of treatments approved by the FDA show that they have potential to improve peoples lives.

The treatment is only as accessible as it is affordable. Novartis Pharmaceuticals new therapy Zolgensma made headlines for its hefty $2.1 million price tag. It is meant to treat spinal muscular atrophy; a muscular degenerative disorder where the patients only live a few years. Not all insurance companies cover Zolgensma, leaving families wondering how to acquire this life saving treatment. This is the most expensive therapy out there, but highlights how cost can leave families scrambling to provide relief for their children. The cost of all gene therapy medications should be made affordable so medication can do its job of improving quality of life. There is the fear that only the wealthy will have access to gene therapies.

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Gene Therapy: Healing remedy or harmful hoax? The Knight News - The Knight News

CSL bought the rights to EtranaDez off Netherlands company uniQure this year for $US450 million.

Its current haemophilia B treatment, Idelvion, has a 30 per cent market share, but Dr Storey believes that if EntranaDez is successful, this would rise to at least 40 per cent.

The upside to the CSL Behring division's earnings before interest, tax, depreciation and amortisation would be about 4 per cent, and potentially 6 per cent if it also acts as a defence to Idelvion against non-factor therapies being developed by competitors. Non-factor therapies have already disrupted the haemophilia A market.

Dr Storey said CSL's haemophilia business was an often "overlooked driver of margins".

Based on consultations with experts in the industry, he and co-author Melissa Benson set a success target of 20 per cent factor IX activity. Haemophilia B patients are deficient in factor IX, the protein that allows blood to clot. Most people have more than 50 per cent factor IX in their blood.

He said that if this level of activity was achieved, it would be a "knock-out" result, which would lead to meaningful clinical adoption.

The EtranaDez trial is likely to be a focal point of CSL's R&D day next Tuesday and clinical trial results are expected this month.

The gene therapy would be a one-shot option for haemophilia B patients and the duration that it would be effective for is unknown. However, the report by Wilsons suggested it would need a minimum durability of three to five years, but should ideally target an eight to 10-year timeframe, which would make reimbursement justification easier.

"Haematologists are hopeful it could last over 10 years," Dr Storey said. "You've only got one shot on goal with a gene therapy like this and it'll be a $US2-3 million shot so don't drop it."

If the drug was successful, Dr Storey said it could galvanise CSL's investment into gene therapy and spur more acquisitions by it in the emerging field.

He said there was no doubt CSL would invest more in gene therapy. "You're seeing so much competition on so many aspects of their business, they inevitably have to participate more and more in that.

"[In terms of acquisitions] it's more likely to be of the sorts developing alternatives to intravenous immunoglobulin.

"They need things that are fairly close to market. Looking at its R&D pipeline, the next big thing is CSL 112, which is still some years away, so they do have a gap in the pipeline."

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New CSL gene therapy could trigger a stock rerating - The Australian Financial Review