Category Archives: Gene therapy

The inherited metabolic disorders market lies mostly with the Caucasian and African American populations of world, especially in North America, Europe, Australia, and Africa, followed by the minority populations from South Asia and East A.

Globally, IMD affects nearly one in every 2,500 to 5,000 individuals with nearly 300 to 600 new cases found in the U.K., according to Public Health Genetics U.K. The specificity and high risk affinity of IMD varies from disorder to disorder, with some disorders like familial cylomicronemia being closely associated with Caucasians and others like porphyria being recoded largely among African Americans. These metabolic disorders are often controllable with certain lifestyle and diet changes, including Familial Cylomicronemia and Phenylketonuria. But some IMDs are highly dangerous and may affect the survivability of a person, such as Huntingtons or Zellweger syndrome.

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A lot of IMDs arise when the mutated gene responsible is inherited by the natural selection process and a large number of these genes are recessive. This is probably why a large number of these metabolic disorders are rare occurrences, whereas certain other genes are dominant in nature; this makes it difficult for a willing parent to conceive a child as the risk for transferring a gene remains high (e.g. Huntingtons). Familial chylomicronemia occurs when an individual genetically inherits Lipoprotein lipase enzyme mutation. This is a very rare genetic disease at occurrence rate of 1 individual per million with chances of symptoms occurring only in homozygous individuals (receiving mutation genes from both parents) or in other words recessive gene transmission.

Global Inherited Metabolic Disorders Market: Current Market Trends

Nowadays, genetic screening via mass spectrometry and DNA testing of all newborn children are done in nearly all of the developed countries and also some developing countries of the world, including India, China, and Brazil, albeit across a small percentage of the national population. This prepares a parent and the child with the necessary precautions and treatment for increasing the longevity of the concerned newborn. The life expectancy of such a child with all the necessary care and precaution is at par with the average individual.

However among many adult populations and in some children, rare genetic metabolic disorders are abruptly presented and often not accurately diagnosed. In such individuals, abnormal metabolic changes are considered to be a type of genetic mutation in routine diagnosis. Symptoms such as growth failure, precocious puberty and development delay in children below 12, and anemia, neurological disorder, cancer, muscle weakness, rapid hormonal changes, and skin changes in adults, are regarded to probably have a genetic metabolic cause.

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Global Inherited Metabolic Disorders Market: Treatment Classifications

The treatment of IMDs is broadly classified into dietary restrictions, dietary supplementation, drugs that inhibit or regulate metabolism, transplantation of the concerned organ, gene therapy, and dialysis in severe cases. In the case of familial cylomicronemia, gene therapy includes Alipogene tiparvovec recombinant gene therapy drug, manufactured by UniQure Inc. This therapy utilizes viruses (adenovirus vector) designed in such a way that upon infection, the gene for producing the lipoprotein lipase is induced into the host cell, thereby producing the enzyme in-vivo. This therapy has shown positive results and is expected to be released into the market soon. For now, the global inherited metabolic disorders Market lies broadly in the dietary supplements market.

Global Inherited Metabolic Disorders Market: Regional Evaluation

The overall estimated global populations of IMD individuals lie in few millions. The niche category of this segment gives little market for specific condition-related products. However, the implications of therapy are huge as some treatments have the potential to completely eradicate these disorders. Several suitable models have been considered for the treatment of hypercholesterolemia and dyslipidemia, which can in turn alter the outcome of cardiovascular diseases to a bare minimum in the future. For now, the inherited metabolic disorders is open for limitless possibilities.

The inherited metabolic disorders lays primarily with the Caucasian and African American populations of world, especially in North America, Europe, Australia, and Africa, followed by the minority populations from South Asia and East Asia.

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Document Global Hemophilia Gene Therapy Market from 2021 to 2027 was recently submitted by MarketandResearch.biz. It gives the readers a knowledgeable and crisp report on the present state of affairs, commenting on the markets key elements, like market methods and enhancements.

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Global Hemophilia Gene Therapy Market 2021 Industry Segmentation Spark Therapeutics, Ultragenyx, Shire PLC, Sangamo Therapeutics The UK Directory -...

Sangamo Therapeutics has posted clinical data on a therapy it hopes will shake up the Fabry disease market. The gene therapy showed encouraging safety and efficacy signs in the small study, prompting Sangamo to start preparations for a phase 3 clinical trial.

Today, Fabry patients receive enzyme replacement therapies (ERTs) such as Sanofis Fabrazyme and, in some ex-U.S. markets, Takedas Replagal. However, the biweekly infusions are a burden, leading gene therapy developers including Avrobio and Freeline to try to develop one-shot treatments for the disease.

Sangamo showed its hand Thursday, presenting data on the first four patients to receive ST-920 across two dose cohorts. The gene therapy, also known as isaralgagene civaparvovec, uses an AAV vector to get a copy of the GLA gene to the liver, thereby driving production of an enzyme needed by Fabry patients.

All four patients experienced increased enzyme activity, ranging from two- to 15-fold above mean normal. Two of the patients were on ERT at baseline. Investigators have withdrawn ERT from one of the patients and plan to stop treatment of the second subject. One patient had elevated levels of lyso-Gb3, a Fabry biomarker, at baseline. Their lyso-Gb3 levels fell by around 40% after treatment.

RELATED: Avrobio plans head-to-head Fabrazyme trial after FDA changes path to market

The effects of the gene therapy on enzyme activity and lyso-Gb3 appear to be durable so far. The first patient to receive ST-920 had maintained elevated enzyme activity for one year as of the September cutoff. Lyso-Gb3 in the patient with an elevated level at baseline remained down and stable 32 weeks after treatment with ST-920.

Sangamo also highlighted changes relevant to quality of life. Three patients reported improvements in their ability to sweat, which Sangamo said could lift a limit on their ability to tolerate strenuous tasks and exercise. Safety and tolerability look clean at this stage, with no treatment-related adverse events higher than Grade 1.

The phase 1/2 clinical trial is continuing, with Sangamo recently dosing the first patient in the third dose cohort, but attention is already starting to turn to further development. Sangamo has started phase 3 planning.

Shares in the biotech jumped nearly 24% in mid-morning trading Thursday at 10am ET.

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Sangamo's Fabry gene therapy clears early clinical test, firing starting gun on preparations for phase 3 - FierceBiotech

Levodopa, the commonly prescribed dopamine-restoring drug for Parkinson's disease, loses its effectiveness over time. Researchers at Northwestern University say they've found a potential method forreviving the drug's benefits: gene therapy.

The researchers restored the ability of neurons to convert levodopa into dopamine in mice with a gene therapy that targets the substantia nigra region of the brain. By effectively recreating a healthy environment in the brain, the therapy eliminated abnormal brain activity that causes movement difficulties in Parkinson's patients, the teamreported in Nature.

The new findings also provided insights into why dopamine-releasing neurons wither away in Parkinson's. By studying the genetic features of theneurons in Parkinson's models, the Northwestern researchers showed that damage to the mitochondria, the power suppliers inside of dopamine-producing neurons, triggers events that lead to Parkinson's.

"Whether mitochondrial damage was a cause or consequence of the disease has long been debated. Now that this issue is resolved, we can focus our attention on developing therapies to preserve their function and slow the loss of these neurons," said James Surmeier, Ph.D., chair of neuroscience at Northwestern's Feinberg School of Medicine, in a statement.

Theinsights could be usedto develop tests that identify Parkinson'sin people five to 10 years before it manifests, Surmeier suggested.

RELATED:Neurocrine exits $165M Parkinson's pact with Voyager after FDA hold

Efforts to develop gene and cell therapies for Parkinson's are underway, with mixed results so far.Bayer has started two early-stage trials: a gene therapy being developed byits subsidiary AskBio and a stem cell treatment from its unit BlueRock Therapeutics.

Voyager Therapeutics has suffered several setbacks in its efforts to develop a gene therapy for Parkinson's.Sanofi ended its deal with Voyager in October 2017, AbbVie nixed its pact in August 2020 and Neurocrine Biosciences axed its tie-up in February of this year after a clinical hold was placed on a phase 2 trial last December. Pfizer inkeda $630 million pact with Voyager last month to use its capsids in neurologic and cardiovascular gene therapies, though the specific disease targets were not disclosed.

Other researchers are also looking for innovative ways to spruce up dopamine-producing neurons. A team at the University of San Diego, California developeda gene therapy technique that turned astrocyte cells into dopamine-producing neurons, for example.

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Parkinson's gene therapy restores responses to dopamine-boosting drug in mouse models - FierceBiotech

New research published in the journal Nature Communications has identified a potential treatment for chronic pain in an old experimental cancer drug. The research homed in on the drug by screening over a thousand different molecules in the search for one that can enhance the expression of a gene implicated in chronic pain.

Because chronic pain, like many chronic diseases, has an important root in genetic switches being reprogrammed in a bad way, a disease modifying treatment for chronic pain should reset the genetic switches, not just cover up the pain, as with opioid and aspirin/Tylenol-like painkillers, explains Wolfgang Liedtke, one of the researchers working on the project.

The research focused on a gene called KCC2, which encodes a molecule known to help expel chloride ions from neurons. Low chloride levels in neurons can inhibit pain signaling and research has demonstrated reduced KCC2 expression in many forms of chronic pain.

So the researchers set out to investigate whether any previously developed drugs could enhance KCC2 expression. Because many cancer drugs influence gene expression the study began by surveying more than 1,000 pre-existing molecules from a junkyard of cancer drugs experimental compounds that were mostly abandoned at different stages of research.

The research ultimately homed in on a drug called Kenpaullone, a molecule first investigated decades ago as a cancer treatment before being abandoned during preclinical research stages. Drugs with similar actions to kenpaullone are currently being trialed for Alzheimers disease and muscular dystrophy.

Across a series of impressive preclinical experiments the new study demonstrated kenpaullone effectively reducing signs of pain in several animal models. As well as demonstrating this drug can relieve pain, the researchers described the likely analgesic mechanism by which kenpaullone works.

The main outcome from the research is less about demonstrating kenpaullone to be a specific future pain-relieving drug and more about discovering a new way to treat chronic pain. Kenpaullone is a type of drug known as a GSK-3 inhibitor.

Tideglusib, another GSK-3 inhibitor, has recently demonstrated positive safety data in early human trials. Liedtke and colleagues speculate this drug could be repurposed as an analgesic either after it is approved for other uses or sooner if clinical trials specifically focusing on pain can be arranged.

Ongoing clinical development of GSK3-inhibitory tideglusib, which is in phase-II trials for congenital myotonic dystrophy, could conceivably lead to its repurposing for pain, following approval for its primary, proposed indication, the new study concludes. Even if not imminent anytime soon, since safety data appear to be re-assuring, a clinical trial for pathologic pain with tideglusib as a clinically well-developed GSK3 inhibitor can now be envisioned.

The new study was published in the journal Nature Communications.

Source: Eurekalert

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Experimental cancer drug offers clues to new kind of pain therapy - New Atlas

Updated clinical data to be presented from ongoing Phase 2 registrational trials in LAD-I and FA and Phase 1 trial in PKD

CRANBURY, N.J., November 04, 2021--(BUSINESS WIRE)--Rocket Pharmaceuticals, Inc. (NASDAQ: RCKT), a clinical-stage company advancing an integrated and sustainable pipeline of genetic therapies for rare childhood disorders, today announces upcoming data presentations at the 63rd American Society of Hematology (ASH) Annual Meeting taking place virtually and in Atlanta, Georgia from December 11-14, 2021.

Presentations will include updated clinical data from three of Rockets lentiviral vector (LVV)-based gene therapy programs. The presentations will highlight the Phase 1 global clinical trial of RP-L301 in Pyruvate Kinase Deficiency (PKD) and Phase 2 registrational trials of RP-L201 for Leukocyte Adhesion Deficiency-I (LAD-I) and RP-L102 for Fanconi Anemia (FA).

Details for Rockets oral presentation are as follows:

Title: Lentiviral Mediated Gene Therapy for Pyruvate Kinase Deficiency: Interim Results of a Global Phase 1 Study for Adult and Pediatric PatientsSession: 801. Gene Therapy: Basic, Translational and Clinical StudiesPresenter: Ami Shah, MD, Center for Definitive and Curative Medicine, Stanford University School of Medicine, Stanford, CADate: Sunday, December 12, 2021Session Time: 4:30 p.m. 6:00 p.m. ETPresentation Time: 5:30 p.m. ETLocation: Georgia World Congress Center, B207-B208Publication Number: 563

Details for Rockets poster presentations are as follows:

Title: A Phase 1/2 Study of Lentiviral-Mediated Ex-Vivo Gene Therapy for Pediatric Patients with Severe Leukocyte Adhesion Deficiency-I (LAD-I): Interim ResultsSession: 801. Gene Therapies: Poster IIPresenter: Elena Almarza, PhD, Senior Scientist, Rocket PharmaceuticalsDate: Sunday, December 12, 2021Session Time: 6:00 p.m. 8:00 p.m. ETLocation: Georgia World Congress Center, Hall B5Publication Number: 2932

Title: Gene Therapy for Fanconi Anemia [Group A]: Interim Results of RP-L102 Clinical TrialsSession: 801. Gene Therapies: Poster IIIPresenter: Agnieszka Czechowicz, MD, PhD, Center for Definitive and Curative Medicine, Stanford University School of Medicine, Stanford, CADate: Monday, December 13, 2021Session Time: 6:00 p.m. 8:00 p.m. ETLocation: Georgia World Congress Center, Hall B5Publication Number: 3968

Story continues

Abstracts can be found online at https://www.hematology.org/publications and in the November supplemental issue of Blood.

About Pyruvate Kinase Deficiency

Pyruvate kinase deficiency (PKD) is a rare, monogenic red blood cell disorder resulting from a mutation in the PKLR gene encoding for the pyruvate kinase enzyme, a key component of the red blood cell glycolytic pathway. Mutations in the PKLR gene result in increased red cell destruction and the disorder ranges from mild to life-threatening anemia. PKD has an estimated prevalence of 3,000 to 8,000 patients in the United States and the European Union. Children are the most commonly and severely affected subgroup of patients. Currently available treatments include splenectomy and red blood cell transfusions, which are associated with immune defects and chronic iron overload.

RP-L301 was in-licensed from the Centro de Investigaciones Energeticas, Medioambientales y Tecnologicas (CIEMAT), Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER) and Instituto de Investigacion Sanitaria Fundacion Jimenez Diaz (IIS-FJD).

About Leukocyte Adhesion Deficiency-I

Severe Leukocyte Adhesion Deficiency-I (LAD-I) is a rare, autosomal recessive pediatric disease caused by mutations in the ITGB2 gene encoding for the beta-2 integrin component CD18. CD18 is a key protein that facilitates leukocyte adhesion and extravasation from blood vessels to combat infections. As a result, children with severe LAD-I are often affected immediately after birth. During infancy, they suffer from recurrent life-threatening bacterial and fungal infections that respond poorly to antibiotics and require frequent hospitalizations. Children who survive infancy experience recurrent severe infections including pneumonia, gingival ulcers, necrotic skin ulcers, and septicemia despite frequent antimicrobial use. Without a successful bone marrow transplant, mortality in patients with severe LAD-I is 60-75% prior to the age of 2 and survival beyond the age of 5 is uncommon. There is a high unmet medical need for patients with severe LAD-I.

About Fanconi Anemia

Fanconi Anemia (FA) is a rare pediatric disease characterized by bone marrow failure, malformations and cancer predisposition. The primary cause of death among patients with FA is bone marrow failure, which typically occurs during the first decade of life. Allogeneic hematopoietic stem cell transplantation (HSCT), when available, corrects the hematologic component of FA, but requires myeloablative conditioning. Graft-versus-host disease, a known complication of allogeneic HSCT, is associated with an increased risk of solid tumors, mainly squamous cell carcinomas of the head and neck region. Approximately 60-70% of patients with FA have a Fanconi Anemia complementation group A (FANCA) gene mutation, which encodes for a protein essential for DNA repair. Mutation in the FANCA gene leads to chromosomal breakage and increased sensitivity to oxidative and environmental stress. Increased sensitivity to DNA-alkylating agents such as mitomycin-C (MMC) or diepoxybutane (DEB) is a gold standard test for FA diagnosis. Somatic mosaicism occurs when there is a spontaneous correction of the mutated gene that can lead to stabilization or correction of a FA patients blood counts in the absence of any administered therapy. Somatic mosaicism, often referred to as natural gene therapy provides a strong rationale for the development of FA gene therapy because of the selective growth advantage of gene-corrected hematopoietic stem cells over FA cells.

About Rocket Pharmaceuticals, Inc.

Rocket Pharmaceuticals, Inc. (NASDAQ: RCKT) is advancing an integrated and sustainable pipeline of genetic therapies that correct the root cause of complex and rare childhood disorders. The Companys platform-agnostic approach enables it to design the best therapy for each indication, creating potentially transformative options for patients afflicted with rare genetic diseases. Rocket's clinical programs using lentiviral vector (LVV)-based gene therapy are for the treatment of Fanconi Anemia (FA), a difficult to treat genetic disease that leads to bone marrow failure and potentially cancer, Leukocyte Adhesion Deficiency-I (LAD-I), a severe pediatric genetic disorder that causes recurrent and life-threatening infections which are frequently fatal, Pyruvate Kinase Deficiency (PKD), a rare, monogenic red blood cell disorder resulting in increased red cell destruction and mild to life-threatening anemia, and Infantile Malignant Osteopetrosis (IMO), a bone marrow-derived disorder. Rockets first clinical program using adeno-associated virus (AAV)-based gene therapy is for Danon disease, a devastating, pediatric heart failure condition. For more information about Rocket, please visit http://www.rocketpharma.com.

Rocket Cautionary Statement Regarding Forward-Looking Statements

Various statements in this release concerning Rockets future expectations, plans and prospects, including without limitation, Rockets expectations regarding its guidance for 2021 in light of COVID-19, the safety and effectiveness of product candidates that Rocket is developing to treat Fanconi Anemia (FA), Leukocyte Adhesion Deficiency-I (LAD-I), Pyruvate Kinase Deficiency (PKD), Infantile Malignant Osteopetrosis (IMO) and Danon Disease, the expected timing and data readouts of Rockets ongoing and planned clinical trials, Rockets plans for the advancement of its Danon Disease program following the lifting of the FDAs clinical hold and the safety, effectiveness and timing of related pre-clinical studies and clinical trials, may constitute forward-looking statements for the purposes of the safe harbor provisions under the Private Securities Litigation Reform Act of 1995 and other federal securities laws and are subject to substantial risks, uncertainties and assumptions. You should not place reliance on these forward-looking statements, which often include words such as "believe," "expect," "anticipate," "intend," "plan," "will give," "estimate," "seek," "will," "may," "suggest" or similar terms, variations of such terms or the negative of those terms. Although Rocket believes that the expectations reflected in the forward-looking statements are reasonable, Rocket cannot guarantee such outcomes. Actual results may differ materially from those indicated by these forward-looking statements as a result of various important factors, including, without limitation, Rockets ability to monitor the impact of COVID-19 on its business operations and take steps to ensure the safety of patients, families and employees, the interest from patients and families for participation in each of Rockets ongoing trials, our expectations regarding the delays and impact of COVID-19 on clinical sites, patient enrollment, trial timelines and data readouts, our expectations regarding our drug supply for our ongoing and anticipated trials, actions of regulatory agencies, which may affect the initiation, timing and progress of pre-clinical studies and clinical trials of its product candidates, Rockets dependence on third parties for development, manufacture, marketing, sales and distribution of product candidates, the outcome of litigation, and unexpected expenditures, as well as those risks more fully discussed in the section entitled "Risk Factors" in Rockets Annual Report on Form 10-K for the year ended December 31, 2020, filed March 1, 2021 with the SEC. Accordingly, you should not place undue reliance on these forward-looking statements. All such statements speak only as of the date made, and Rocket undertakes no obligation to update or revise publicly any forward-looking statements, whether as a result of new information, future events or otherwise.

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Contacts

MediaKevin GiordanoDirector, Corporate Communicationskgiordano@rocketpharma.com

InvestorsMayur Kasetty, M.D.Director, Business Development & Operationsinvestors@rocketpharma.com

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Rocket Pharmaceuticals Announces Presentations Highlighting Three Lentiviral Gene Therapies at the 63rd American Society of Hematology (ASH) Annual...

Rare disease treatment and gene therapy were the topics of a State of Reform 5 Slides Were Discussing panel.

Gene therapy is a form of treatment where genes are inserted into the cells of a patient, instead of relying on drugs or surgery. The therapy may be especially promising for rare diseases.

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Rare diseases are defined as any disease, disorder, or illness that affects fewer than 200,000 people in the U.S. Cumulatively, its estimated that up to 30 million Americans have a rare disease, or nearly one in 10. About 80% of rare diseases have a genetic cause, and nearly all of them have limited or no approved treatment options. Oftentimes, these diseases emerge in childhood.

Jennifer Hodge, U.S. Rare Neurology Medical Team Lead for Pfizer, said during the panel that gene therapy could get to the root of these problems.

Were really saying what is the disease, what is the gene, where is the mutation, and how can we go in and correct it?

Two significant conversations surrounding gene therapy were discussed: cost and regulations.

Ryan Fischer, chief advocacy officer with Parent Project Muscular Dystrophy, said theres much education that needs to be done at the federal level to inform lawmakers on rare disease. At the same time, the mapping of the genome has opened new doors for research and future treatments.

At the state level, Carolina Sommer, founder of the Northwest Rare Disease Coalition, said they are trying to bring stories of people and families with rare diseases to Washington legislators. There is some promising legislation she supports, like the creation of a rare disease advisory council.

On pricing, Fischer said the current generation of gene therapy treatments all cost more than $1 million. However, pricing these treatments can be difficult due to their one-time nature. Alternative payment systems could be created, like payment upon reaching a milestone, as opposed to up front.

I often think its difficult for patient advocacy groups and patients to be put in the middle on the cost of therapies, Fischer said. I think its a question that should be asked and talked about, and we should be talking about it collaboratively.

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5 Slides: Gene therapy and rare disease treatment - State of Reform - State of Reform

Mammoth Biosciences CRISPR systems technology will be used by Vertex Pharmaceuticals to develop in vivo gene-editing therapies for two undisclosed genetic diseases, in a deal that has the potential to generate as much as $695 million for Mammoth, the two companies announced today.

We are focused on developing in vivo gene-editing therapies in two indications for specific serious and/or life-threatening diseases with the Vertex team,Peter Nell, Mammoths Chief Business Officer and Head of Therapeutics Strategy, told GEN.

Mammoth and Vertex did say, however, that they will apply Mammoths CRISPR platform consisting of a proprietary toolbox of novel Cas enzymeswhat the company calls the largest toolbox of CRISPR proteins on earth.

These include Cas12, which targets double-stranded DNA; Cas13, which targets and recognizes single-stranded RNA; Cas14, which targets single-stranded DNA; and Cas, which is encoded exclusively in the genomes of huge bacteriophages.

Mammoth has exclusively licensed foundational IP around novel CRISPR Cas12, Cas13, Cas14, and Cas systems from the University of California, Berkeley, where, they were discovered in the lab of Nobel laureate and Berkeley-based researcher Jennifer Doudna, Ph.D.

Doudna is a co-founder of Mammoth Biosciences along with CEO Trevor Martin, Ph.D.; Janice Chen, Ph.D., the companys CTO; Lucas Harrington, Mammoths CSO; and Ashley Tehranchi, Ph.D., who served as CTO until May 2019.

Cas14 and Cas are the smallest known CRISPR systems. Their sizes530 amino acids for Cas14a and 757 amino acids for Cas-2are less than half those of commonly used variants of Cas9 [1368 amino acids for SpCas9] and Cas12 [1,300 amino acids for FnCas12], offering numerous potential advantages for the therapies Mammoth plans to develop, Martintold GEN Edge last month, after the company announced the completion of $195 million in new financing completed over the past year.

The additional financingconsisting of $150 million in Series D financing and a $45-million Series C round whose investors included Amazonbrought Mammoths total capital raised from investors to more than $255 million., propelling the company to a unicorn valuation of more than $1 billion.

In addition, Mammoth said, it is building out its IP portfolio by discovering novel CRISPR systems within and beyond the foundational work. The company has yet to disclose those systems or other Cas enzymes under development.

The combination of Mammoths unique technology with Vertexs unmatched experience in serious disease research and development will only accelerate programs with the goal of reaching patients with high unmet medical need, Nell added. We believe our novel ultra-small CRISPR systems have the potential to be game-changers when it comes to systemic and targeted delivery of in vivo gene-editing therapies.

CRISPR-edited therapies have been an area of focus for Vertex. Late last year, the company and CRISPR Therapeuticsreported positive data from a pair of Phase I/II trialsfor their CRISPR-Cas9 gene-edited therapy CTX001 showing consistent and sustained positive response in 10 patients treated for a pair of blood disorders, sickle cell disease (SCD) and beta thalassemia.

The companies in April amended their collaboration agreement to give Vertex leadership in global development, manufacturing, and commercialization of CTX001 with support from CRISPR Therapeutics, in return for CRISPR receiving a $900 million upfront payment and a potential additional $200 million milestone payment upon CTX001 regulatory approval. Two months later, during the Joint European Hematology Association-American Society of Hematology (EHA-ASH) Symposium, researchers presented additional clinical data showing CTX001 to have delivered a consistent and sustained response to treatment in 22 patients in two ongoing Phase I/II trials.

We see tremendous potential for CTX001, Stuart A. Arbuckle, Vertexs executive vice president and chief commercial and operations officer, told analysts July 29 on the companys quarterly earnings call following release of second-quarter results. He cited an estimate of more than 150,000 patients in the United States and Europe, who have beta thalassemia, or sickle cell disease, approximately 32,000 of whom have severe disease; plus another 25,000 severe sickle cell disease patients, the vast majority of which were in the United States.

We believe that a gene-editing approach which holds the potential for a one-time curative treatment will be highly valued by patients, physicians, and payers, Arbuckle said. Consistent with our own internal market research, published physician surveys in the United States consistently indicate that they expect a quarter to a third of their sickle cell disease patients would be good candidates for a one-time curative approach using the current conditioning regimen, which is in line with the estimates of the numbers of severe patients.

With gentler conditioning regimens in the future, Arbuckle added, we expect CTX001 to be an attractive option for a much larger proportion of the 150,000 beta thalassemia and sickle cell disease patients.

To launch its collaboration with Mammoth, Vertex has agreed to pay the Brisbane, CA,-based company $41 million upfront, including an investment in the form of a convertible note, and up to $650 million in potential future payments tied to achieving research, development, and commercial milestones across two potential programs.

Mammoth is also eligible for tiered royalties from Boston-based Vertex on future net sales on any products that may result from the collaboration, the first one announced by Mammoth for the development of gene-edited therapies.

Vertex and Mammoth share the same commitment to developing therapies that have the potential to be transformative for people with serious diseases, stated David Altshuler, MD, PhD, Vertexs CSO. We look forward to expanding our cell and genetic therapies capabilities with the addition of Mammoths ultra-small CRISPR systems for in vivo genome editing, which will provide us with another set of tools to tackle many of the diseases were interested in.

Mammoth is also developing CRISPR-based diagnostics, having applied Cas12 in its COVID-19diagnostic effort which culminated in the SARS-CoV-2 RNA DETECTR Assay, a COVID-19 diagnostic for whichUCSF Health Clinical Laboratorieswasgranted an FDA Emergency Use Authorization (EUA)in August 2020.

The 45-minute test is designed to detect nucleic acid from SARS-CoV-2 in upper respiratory specimens. The test extracts, isolates, and purifies SARS-CoV-2 nucleic acid for simultaneous reverse transcription into cDNA, followed by amplification using loop-mediated amplification (RT-LAMP).

The SARS-CoV-2 RNA DETECTR Assay was co-developed by Mammoth through itspartnership with UCSF professor Charles Chiu, MD, PhD, who is also director of the UCSF-Abbott Viral Diagnostics and Discovery Center, and a member of the companys Scientific Advisory Board. Mammothin 2019exclusively licensed two U.S. patentsgranted to the regents of the University of California that cover CRISPR collateral cleavage diagnostic systems.

In July 2020, Mammoth won funding for its development of a scalable COVID-19 test, when the company wasawarded $23.1 millionof $248.7 million in contracts to the first seven lab-based and point-of-care tests diagnostics developersfunded through the NIHs Rapid Acceleration of Diagnostics (RADx) initiative. The testing system can be adapted to detect for other viruses, though Mammoth has not made public which ones.

Two months earlier in May 2020, Mammoth launched a collaboration with GlaxoSmithKlines GSK Consumer Healthcare to develop a handheld test designed to apply the DETECTR platform at point of need. Mammoth has disclosed few details since the initial announcement, with Martin saying last month: I cant say too much about it, but definitely weve made huge strides.

Read the original:
Vertex Taps Mammoth's CRISPR Tech in Gene Therapy Deal Worth up to $695M - Clinical OMICs News

Catalent, the Somerset-based clinical supply solutions company, on Tuesday said it will spend $230 million to expand its plant in Harmans, Maryland, to meet growing customer demand.

The Harmans campus includes a now fully operational, state-of-the-art U.S. FDA- and EMA-approved facility comprising 10 commercial-scale manufacturing suites. A second facility is under construction following an initial $130 million investment by Catalent in 2020, which will add five new manufacturing suites that are expected to be operational mid-2022. This latest investment, which will bring the total investment in the eight new lines to $360 million, will include the construction of three additional multiroom commercial suites, as well as expanding the sites storage capabilities for just-in-time inventory space, ultra-low temperature freezers and its water-for-injection infrastructure.

Other facilities, including multistory parking and an onsite cafeteria, are planned for the campus to support the significant anticipated growth in employee numbers. The expansion will see the creation of more than 700 new technical, scientific and operational employment positions over the next six years.

Catalent is committed to continuous improvement and growing with our customers futures in mind. This necessitates that we consistently incorporate our own learnings and the latest developments in CGMP manufacturing into our new and existing facilities and operations, to help assure quality and derisk processes, Manja Boerman, president, Catalent Cell & Gene Therapy, said in a news release. By applying the expertise we have gained from the last three years of operating our flagship gene therapy commercial facility, we are able to continue to expand our campus with a design layout that is innovative, efficient, and provides ultimate flexibility for our customers.

Read more from the original source:
Catalent invests $230M in Md. gene therapy campus - ROI-NJ.com

Dive Brief:

Only a handful of gene therapies for inherited diseases are approved worldwide. Bluebird, holding two of them, has been one of the leading developers.

So Bluebird's struggles in Europe are notable for the dozens of other biotech companies advancing gene-based treatments for uncommon diseases like cerebral adrenoleukodystrophy or severe beta thalassemia.

The company's decision also reflects the differences in how therapies approved in Europe are paid for, with decisions on reimbursement left up to the governments of individual EU member states. Compared to the U.S., European countries can be more aggressive in demanding lower prices and, as many have single-payer healthcare systems, are better able to negotiate for larger discounts.

While Bluebird set a $1.8 million price for Zynteglo, the company proposed having countries reimburse for treatment over five years. Payments were linked to continued patient benefit.

Germany, however, countered with an initial price of $790,000 per patient, rising to roughly $950,000 if patients were benefiting from treatment several years later, according to an April report from STAT News.

That proved unpalatable to Bluebird, which pulled Zynteglo from Germany before later announcing a broader withdrawal from Europe.

"Bluebird's decision to focus on the U.S. market is driven by the challenges of achieving appropriate value recognition and market access for Zyntegloin Europe, which makes bringing its transformative gene therapies like Zyntegloand Skysona to patients and physicians in Europe untenable for a small innovative company at this time, said Andrew Obenshain, head of severe genetic diseases at Bluebird, in an August statement.

Along with the withdrawal of Skysona from Europe, Bluebird is also pulling back an application for approval in the U.K., according to a Thursday filing with U.S. securities regulators. Withdrawal of Zynteglo from the EU and U.K. will be complete by early 2022.

Bluebird said it will continue long-term follow-up of patients treated in clinical trials in Europe, but will not carry out further study of the treatments there.

While specific numbers aren't available, few patients ever received Zynteglo. The first patient ever treated commercially only received the therapy in February of this year, after manufacturing difficulties had delayed Bluebird's launch of the drug.

Neither Zynteglo or Skysona were expected to be widely used given the small patient populations they were approved to treat. But clinical testing had shown both to be effective therapies, meaning their withdrawal leaves patients in Europe with one less treatment option.

Bluebird recently asked the Food and Drug Administration for approval of Zynteglo in the U.S. and plans to do the same for Skysona by the end of this year.

The company is also in the midst of splitting in two, with its cancer research and programs set to be spun out into a new independent company called 2seventy bio.

Continued here:
Bluebird, winding down in Europe, withdraws another rare disease gene therapy - BioPharma Dive