Category Archives: Genetic medicine

Sarepta Therapeutics, Inc.

CAMBRIDGE, Mass., Sept. 06, 2022 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced that the U.S. Food and Drug Administration (FDA) has removed the clinical hold on SRP-5051 (vesleteplirsen), the Companys investigational, next-generation peptide-conjugated phosphorodiamidate morpholino oligomer (PPMO) to treat patients with Duchenne muscular dystrophy who are amenable to exon 51 skipping. After discussions with FDA and as part of the lift, Sarepta will adjust the global trial protocol to include expandedmonitoringof urine biomarkers.

The hold in Part B of Study 5051-201, also known as MOMENTUM, followed a serious adverse event of hypomagnesemia. Information was provided by the Company to FDA to assess the adequacy of the risk mitigation and safety monitoring plan.

We would like to thank FDA for working closely with us to expeditiously resolve this clinical hold. We will implement the changes in the protocol to resume dosing in the U.S. as quickly as possible, said Louise Rodino-Klapac, Ph.D., executive vice president and chief scientific officer, Sarepta Therapeutics. Our monitoring plan is designed to mitigate the risks of hypomagnesemia. MOMENTUM has continued enrolling participants outside the U.S., and we remain on track to complete enrollment by the end of 2022. Sarepta is committed to the SRP-5051 program and excited about the PPMO platform as a next-generation exon-skipping approach for the treatment of Duchenne.

About SRP-5051 (vesleteplirsen) SRP-5051 is an investigational agent using Sareptas PPMO chemistry and exon-skipping technology to skip exon 51 of the dystrophin gene. SRP-5051 is designed to bind to exon 51 of dystrophin pre-mRNA, resulting in exclusion of this exon during mRNA processing in patients with genetic mutations that are amenable to exon 51 skipping. Exon skipping is intended to allow for production of an internally shortened, functional dystrophin protein. PPMO is Sareptas next-generation chemistry platform designed around a proprietary cell-penetrating peptide conjugated to the PMO backbone, with the goal of increasing tissue penetration, increasing exon skipping, and significantly increasing dystrophin production. Around 13% of DMD patients have mutations that make them amenable to skipping exon 51. If successful, the PPMO offers the potential for improved efficacy and less frequent dosing for patients.

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About MOMENTUM (Study SRP-5051-201) MOMENTUM is a Phase 2, multi-arm, ascending dose trial of SRP-5051, infused monthly and will assess dystrophin protein levels in skeletal muscle tissue following SRP-5051 treatment. The trial will enroll up to 60 participants, both ambulant and non-ambulant, between the ages of 7 to 21 at sites in the U.S., Canada, and the European Union. The trial will also assess safety and tolerability.

In 2021, the Company announced results from Part A of MOMENTUM showing that after 12 weeks, 30 mg/kg of SRP-5051 dosed monthly resulted in 18 times the exon skipping and eight times the dystrophin production as eteplirsen, dosed weekly for 24 weeks. Reversible hypomagnesemia was identified in patients taking SRP-5051. The protocol for Part B of MOMENTUM includes magnesium supplementation and monitoring of magnesium levels.

More information can be found on http://www.clinicaltrials.gov.

About Sarepta TherapeuticsSarepta is on an urgent mission: engineer precision genetic medicine for rare diseases that devastate lives and cut futures short. We hold leadership positions in Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophies (LGMDs), and we currently have more than 40 programs in various stages of development. Our vast pipeline is driven by our multi-platform Precision Genetic Medicine Engine in gene therapy, RNA, and gene editing. For more information, please visitwww.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

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

Forward-Looking StatementsThis press release contains "forward-looking statements." Any statements contained in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Words such as "believes," "anticipates," "plans," "expects," "will," "intends," "potential," "possible" and similar expressions are intended to identify forward-looking statements. These forward-looking statements include statements regarding adjustments to our global trial protocol for SRP-5051; the potential benefits of PPMO and SRP-5051; our approach to monitoring and managing hypomagnesemia; and our expected timelines, plans, and milestones, including completing enrollment of Part B of MOMENTUM by the end of 2022, and resuming screening and dosing in the U.S. as quickly as possible.

These forward-looking statements involve risks and uncertainties, many of which are beyond our control. Known risk factors include, among others: success in preclinical studies and clinical trials, especially if based on a small patient sample, does not ensure that later clinical trials will be successful, and may not be consistent with the final data set and analysis thereof or result in a safe or effective treatment benefit; different methodologies, assumptions and applications we utilize to assess particular safety or efficacy parameters may yield different statistical results, and even if we believe the data collected from clinical trials of our product candidates are positive, these data may not be sufficient to support approval by the FDA or foreign regulatory authorities; we may not be able to execute on our business plans and goals, including meeting our expected or planned regulatory milestones and timelines, clinical development plans, and bringing our product candidates to market, due to a variety of reasons, some of which may be outside of our control, including possible limitations of company financial and other resources, manufacturing limitations that may not be anticipated or resolved for in a timely manner, regulatory, court or agency decisions, such as decisions by the United States Patent and Trademark Office with respect to patents that cover our product candidates and the ongoing COVID-19 pandemic; and those risks identified under the heading Risk Factors in Sareptas most recent Annual Report on Form 10-K for the year ended December 31, 2021, and most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings made by the Company, which you are encouraged to review.

Any of the foregoing risks could materially and adversely affect the Companys business, results of operations and the trading price of Sareptas common stock. For a detailed description of risks and uncertainties Sarepta faces, you are encouraged to review the SEC filings made by Sarepta. We caution investors not to place considerable reliance on the forward-looking statements contained in this press release. Sarepta does not undertake any obligation to publicly update its forward-looking statements based on events or circumstances after the date hereof.

Source: Sarepta Therapeutics, Inc.

Investor Contact: Ian Estepan, 617-274-4052iestepan@sarepta.com

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

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Sarepta Therapeutics Announces That FDA has Lifted its Clinical Hold on SRP-5051 for the Treatment of Duchenne Muscular Dystrophy - Yahoo Finance

Researchers have identified genetic signatures that may explain the ethnic differences in the severity of prostate cancer, particularly in sub-Saharan Africa.

In two studies published in Nature and Genome Medicine, researchers detailed how they used genetic sequencing of prostate cancer tumors from Australian, Brazilian, and South African donors to identify a new prostate cancer taxonomy and cancer drivers that not only distinguish patients by genetic ancestry, but also predict which cancers are likely to become life-threatening.

Our understanding of prostate cancer has been severely limited by a research focus on Western populations, said senior author Vanessa Hayes, genomicist and Petre Chair of Prostate Cancer Research at the University of Sydneys Charles Perkins Centre and Faculty of Medicine and Health in Australia. Being of African descent, or from Africa, more than doubles a mans risk for lethal prostate cancer. While genomics holds a critical key to unravelling contributing genetic and non-genetic factors, data for Africa has till now, been lacking.

In the Nature study, the researchers used whole-genome sequencing of treatment-nave prostate cancer samples from 183 ancestrally and globally distinct patients. They generated a large cancer genomics resource for sub-Saharan Africa, identifying around 2 million somatic variants.

We found Africans to be impacted by a greater number and spectrum of acquired (including cancer driver) genetic alterations, with significant implications for ancestral consideration when managing and treating prostate cancer, said Hayes.

Among the significant findings were elevated tumor mutational burden, increased percentage of genome alteration, a greater number of predicted damaging mutations, and a higher total of mutational signatures. Additionally, they identified driver genes NCOA2, STK19, DDX11L1, PCAT1 and SETBP1.

In the Genome Medicine study, the researchers used whole genome sequencing and best practice workflows to analyze structural variations for 180 prostate tumors derived from 115 African, 61 European, and four ancestrally admixed patients.

In African-derived tumors there was a 1.6- to 2.5-fold increase in duplication events. African-derived tumors were also twofold more likely to present with a hyper-SV subtype.

Through African inclusion, we have made the first steps not only towards globalizing precision medicine but ultimately to reducing the impact of prostate cancer mortality across rural Africa, explains University of Pretorias Professor Riana Bornman, an international expert in mens health and clinical lead for the Southern African Prostate Cancer Study in South Africa.

References

Study reveals aggressive prostate cancer linked to ancestral heritage

African-specific molecular taxonomy of prostate cancer

Genome-wide interrogation of structural variation reveals novel African-specific prostate cancer oncogenic drivers

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Studies Reveal Aggressive Prostate Cancer Linked to Ancestral Heritage - DocWire News

Manufacturing partner, Lonza, has today (September 6) announced a collaboration with Touchlight, a biotech company that works with enzymatic DNA production enabling genetic medicine.

Through this collaboration, Lonza says it will have the ability to expand it end-to-end offering for mRNA manufacturing with an additional source of DNA raw material. This material comes from Touchlights doggybone DNA (dbDNA). Touchlight says it will be able to widen the channels making it easier for customers to get to the dbDNA technology.

The company developed thesynthetic DNA vector, known as doggybone -named after its schematic structure DNA or dbDNA and enzymatic manufacturing process, which they say enables them to produce DNA at unprecedented speed, scale and purity.

Lonzas customers will be able to access the enzymatic DNA technology; a linear, covalently closed DNA vector, produced using an enzymatic manufacturing process which enables GMP production.

Access to this technology, the companies say, will expand the options for Lonzas customers beyond the traditional method of working with plasmid DNA (pDNA), while continuing to benefit from the Lonzas integrated mRNA manufacturing offering.

Andr Goerke, vice president, business unit head mRNA, Lonza, said: The strategic collaboration with Touchlight enables Lonza to further enhance its position as a global leader in mRNA manufacturing.

We can now provide our customers with a strong foundation to deliver an end-to-end offering that includes access to a novel synthetic DNA technology. Such an integrated solution can prove beneficial in speeding up time to market, which is critical in the fast-paced industry of mRNA manufacturing.

DNA serves as the starting template for the production of mRNA. Through an enzymatic in vitro transcription process, this DNA sequence is then transcribed into a single-stranded RNA molecule, which is then processed into mRNA. Current mRNA-based therapeutics in development include vaccines for infectious diseases and immuno-oncology.

Karen Fallen, CEO, Touchlight DNA services, added: We are delighted to provide Touchlight customers the benefits of an end-to-end mRNA offering through our collaboration with Lonza. Lonza is the leading CDMO in mRNA manufacturing and has an established, global mRNA manufacturing network. The alliance allows both companies to innovate and to extend their offering on a global level.

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Lonza and Touchlight collaboration will expands customer's access to DNA - Labiotech.eu

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Eight months after falling ill with covid-19, the 73-year-old woman couldnt remember what her husband had told her a few hours before. She would forget to remove laundry from the dryer at the end of the cycle. She would turn on the tap at a sink and walk away.

Before covid, the woman had been doing bookkeeping for a local business. Now, she couldnt add single-digit numbers in her head.

Was it the earliest stage of dementia, unmasked by covid? No. When a therapist assessed the womans cognition, her scores were normal.

What was going on? Like many people whove contracted covid, this woman was having difficulty sustaining attention, organizing activities, and multitasking. She complained of brain fog. She didnt feel like herself.

But this patient was lucky. Jill Jonas, an occupational therapist associated with the Washington University School of Medicine in St. Louis who described her to me, has been providing cognitive rehabilitation to the patient, and she is getting better.

Cognitive rehabilitation is therapy for people whose brains have been injured by concussions, traumatic accidents, strokes, or neurodegenerative conditions such as Parkinsons disease. Its a suite of interventions designed to help people recover from brain injuries, if possible, and adapt to ongoing cognitive impairment. Services are typically provided by speech and occupational therapists, neuropsychologists, and neurorehabilitation experts.

In a recent development, some medical centers are offering cognitive rehabilitation to patients with long covid (symptoms that persist several months or longer after an infection that cant be explained by other medical conditions). According to the Centers for Disease Control and Prevention, about 1 in 4 older adults who survive covid have at least one persistent symptom.

Experts are enthusiastic about cognitive rehabilitations potential. Anecdotally, were seeing a good number of people [with long covid] make significant gains with the right kinds of interventions, said Monique Tremaine, director of neuropsychology and cognitive rehabilitation at Hackensack Meridian Healths JFK Johnson Rehabilitation Institute in New Jersey.

Among the post-covid cognitive complaints being addressed are problems with attention, language, information processing, memory, and visual-spatial orientation. A recent review in JAMA Psychiatry found that up to 47% of patients hospitalized in intensive care with covid developed problems of this sort. Meanwhile, a new review in Nature Medicine found that brain fog was 37% more likely in nonhospitalized covid survivors than in comparable peers who had no known covid infections.

Also, theres emerging evidence that seniors are more likely to experience cognitive challenges post-covid than younger people a vulnerability attributed, in part, to older adults propensity to have other medical conditions. Cognitive challenges arise because of small blood clots, chronic inflammation, abnormal immune responses, brain injuries such as strokes and hemorrhages, viral persistence, and neurodegeneration triggered by covid.

Getting help starts with an assessment by a rehabilitation professional to pinpoint cognitive tasks that need attention and determine the severity of a persons difficulties. One person may need help finding words while speaking, for instance, while another may need help with planning and yet another may not be processing information efficiently. Several deficits may be present at the same time.

Next comes an effort to understand how patients cognitive issues affect their daily lives. Among the questions that therapists will ask, according to Jason Smith, a rehabilitation psychologist at the University of Texas Southwestern Medical Center in Dallas: Is this [deficit] showing up at work? At home? Somewhere else? Which activities are being affected? Whats most important to you and what do you want to work on?

To try to restore brain circuits that have been damaged, patients may be prescribed a series of repetitive exercises. If attention is the issue, for instance, a therapist might tap a finger on the table once or twice and ask a patient to do the same, repeating it multiple times. This type of intervention is known as restorative cognitive rehabilitation.

It isnt easy because its so monotonous and someone can easily lose attentional focus, said Joe Giacino, a professor of physical medicine and rehabilitation at Harvard Medical School. But its a kind of muscle building for the brain.

A therapist might then ask the patient to do two things at once: repeat the tapping task while answering questions about their personal background, for instance. Now the brain has to split attention a much more demanding task and youre building connections where they can be built, Giacino continued.

To address impairments that interfere with peoples daily lives, a therapist will work on practical strategies with patients. Examples include making lists, setting alarms or reminders, breaking down tasks into steps, balancing activity with rest, figuring out how to conserve energy, and learning how to slow down and assess what needs to be done before taking action.

A growing body of evidence shows that older adults can learn to use these strategies and that it does, in fact, enhance their everyday life, said Alyssa Lanzi, a research assistant professor who studies cognitive rehabilitation at the University of Delaware.

Along the way, patients and therapists discuss what worked well and what didnt, and practice useful skills, such as using calendars or notebooks as memory aids.

As patients become more aware of where difficulties occur and why, they can prepare for them and they start seeing improvement, said Lyana Kardanova Frantz, a speech therapist at Johns Hopkins University. A lot of my patients say, I had no idea this [kind of therapy] could be so helpful.

Johns Hopkins has been conducting neuropsychiatric exams on patients who come to its post-covid clinic. About 67% have mild to moderate cognitive dysfunction at least three months after being infected, said Dr. Alba Miranda Azola, co-director of Johns Hopkins Post-Acute COVID-19 Team. When cognitive rehabilitation is recommended, patients usually meet with therapists once or twice a week for two to three months.

Before this kind of therapy can be tried, other problems may need to be addressed. We want to make sure that people are sleeping enough, maintaining their nutrition and hydration, and getting physical exercise that maintains blood flow and oxygenation to the brain, Frantz said. All of those impact our cognitive function and communication.

Depression and anxiety common companions for people who are seriously ill or disabled also need attention. A lot of times when people are struggling to manage deficits, theyre focusing on what they were able to do in the past and really mourning that loss of efficiency, Tremaine said. Theres a large psychological component as well that needs to be managed.

Medicare usually covers cognitive rehabilitation (patients may need to contribute a copayment), but Medicare Advantage plans may differ in the type and length of therapy theyll approve and how much theyll reimburse providers an issue that can affect access to care.

Still, Tremaine noted, not a lot of people know about cognitive rehabilitation or understand what it does, and it remains underutilized. She and other experts dont recommend digital brain-training programs marketed to consumers as a substitute for practitioner-led cognitive rehabilitation because of the lack of individualized assessment, feedback, and coaching.

Also, experts warn, while cognitive rehabilitation can help people with mild cognitive impairment, its not appropriate for people who have advanced dementia.

If youre noticing cognitive changes of concern, ask for a referral from your primary care physician to an occupational or speech therapist, said Erin Foster, an associate professor of occupational therapy, neurology, and psychiatry at Washington University School of Medicine in St. Louis. Be sure to ask therapists if they have experience addressing memory and thinking issues in daily life, she recommended.

If theres a medical center in your area with a rehabilitation department, get in touch with them and ask for a referral to cognitive rehabilitation, said Smith, of UT Southwestern Medical Center. The professional discipline that helps the most with cognitive rehabilitation is going to be rehabilitation medicine.

Judith Graham, a contributing columnist, writes the Navigating Aging column for KHN. She has covered health care for more than 30 years. Find Judith on Twitter @judith_graham

This story was produced byKHN, which publishesCalifornia Healthline, an editorially independent service of theCalifornia Health Care Foundation.

KHN(Kaiser Health News) is a national newsroom that produces in-depth journalism about health issues. Together with Policy Analysis and Polling, KHN is one of the three major operating programs atKFF(Kaiser Family Foundation). KFF is an endowed nonprofit organization providing information on health issues to the nation. Find KHN on Twitter@KHNews

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Elderly are more affected by COVID brain fog, but 'cognitive rehab' could be an effective treatment - Genetic Literacy Project

An Inserm team at the Lille Neuroscience & Cognition laboratory (Inserm/Universit de Lille, Lille University Hospital) has joined forces with its counterparts at Lausanne University Hospital (CHUV) to test the efficacy of GnRH injection therapy in order to improve the cognitive functions of a small group of patients with Down syndrome. First the scientists revealed a dysfunction of the GnRH neurons in an animal model of Down syndrome and its impacts on the cognitive function impairment associated with the condition. Then a pilot study testing GnRH pulsatile injection therapy was conducted in seven patients. The results were promising : the therapy led to improved cognitive function and brain connectivity. This study has been published in Science.

Down syndrome, also known as trisomy 21, affects around one in 800 births and results in a variety of clinical manifestations, including decline in cognitive capacity. With age, 77% of people with the condition experience symptoms similar to those of Alzheimer's disease. Gradual loss of the ability to smell, typical of neurodegenerative diseases, is also commonly encountered from the prepubertal period, with potential sexual maturation deficits occurring in men.

GnRH-secreting neuron dysfunction identified in Down syndrome

Recent discoveries have suggested that the neurons expressing gonadotropin-releasing hormone (GnRH) - which is known for regulating reproduction via the hypothalamus - could also act on other brain regions with a potential role in other functions, such as cognition.

With this idea in mind, the Lille Neuroscience & Cognition laboratory team led by Inserm Research Director Vincent Prvot studied the mechanism which regulates GnRH in mouse models of Down syndrome.

The laboratory demonstrated that five strands of microRNA regulating the production of this hormone - which are found on chromosome 21 are dysfunctional. This supernumerary chromosome then leads to abnormalities in the neurons that secrete GnRH. These findings were confirmed at both genetic and cellular levels. The Inserm scientists were able to demonstrate that the progressive cognitive and olfactory deficiencies seen in the mice were closely linked to dysfunctional GnRH secretion.

Restoring GnRH production to restore cognitive function

The Inserm scientists were then able to demonstrate that restoring physiological GnRH system function restores cognitive and olfactory functions in trisomic mice.

These findings in mice were discussed with Nelly Pitteloud, professor at the Faculty of Biology and Medicine of the University of Lausanne and head of the Endocrinology, Diabetology, and Metabolism Department at CHUV. Her research focuses on congenital GnRH deficiency, a rare disease which manifests by the absence of spontaneous puberty. These patients are given pulsatile GnRH therapy in order to reproduce the natural pulsatile rhythm of this hormones secretion, in order to induce puberty.

The researchers therefore decided to test the efficacy of pulsatile GnRH therapy on cognitive and olfactory deficits in trisomic mice, following a protocol identical to that used in humans. After 15 days, the team was able to demonstrate the restoration of olfactory and cognitive functions in mice.

Pulsatile GnRH therapy improves cognitive function and neural connectivity in a small patient group

The next stage for the scientists and doctors involved a pilot clinical trial in patients to evaluate the effects of this treatment. Seven men with Down syndrome, between 20 and 50years of age, received one subcutaneous dose of GnRH every two hours for 6months via a pump placed on the arm. Cognition and olfactory tests as well as MRI exams were performed before and after the treatment.

From the clinical viewpoint, cognitive performance increased in 6 of the 7 patients with better three-dimensional representation, better understanding of instructions, improved reasoning, attention, and episodic memory. However, the treatment had no impact on the ability to smell. These measures to improve cognitive functions were confirmed by brain imaging conducted by the CHUV Department of Clinical Neurosciences, which revealed a significant increase in functional connectivity.

These data suggest that the treatment acts on the brain by strengthening the communication between certain regions of the cortex."Maintaining the GnRH system appears to play a key role in brain maturation and cognitive functions," explains Prvot. "In Down syndrome, pulsatile GnRH therapy is looking promising, especially as it is an existing treatment with no significant side effects," adds Pitteloud.

These promising findings now justify the launch of a larger study with the inclusion of women to confirm the efficacy of this treatment in people with Down syndrome, but also for other neurodegenerative conditions such as Alzheimer's disease.

Source

GnRH replacement rescues cognition in Down Syndrome

Maria Manfredi-Lozano1,2#, Valerie Leysen1,2#, Michela Adamo3,4#, Isabel Paiva5, Renaud Rovera6, Jean-Michel Pignat7, Fatima Ezzahra Timzoura1,2, Michael Candlish8,, Sabiha Eddarkaoui1, Samuel A. Malone1,2, Mauro S. B. Silva1,2, Sara Trova1,2, Monica Imbernon1,2, Laurine Decoster1,2, Ludovica Cotellessa1,2,Manuel Tena-Sempere9, Marc Claret10, Ariane Paoloni-Giacobino11, Damien Plassard12, Emmanuelle Paccou3, Nathalie Vionnet3, James Acierno3, Aleksandra Maleska Maceski13, Antoine Lutti14, Frank Pfrieger15, S. Rasika1,2, Federico Santoni4, Ulrich Boehm8, Philippe Ciofi16, Luc Bue1, Nasser Haddjeri6, Anne-Laurence Boutillier5, Jens Kuhle13, Andrea Messina3,4, Bogdan Draganski14,17, Paolo Giacobini1,2, Nelly Pitteloud3,4*, Vincent Prevot1,2 *

1 Univ. Lille, Inserm, CHU Lille, Lille Neuroscience & Cognition, UMR-S 1172, Labex DistAlz,Lille, France2 Laboratory of Development and Plasticity of the Neuroendocrine Brain, FHU 1000 days forhealth, EGID, Lille, France3 Department of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital,1011 Lausanne, Switzerland4 Faculty of Biology and Medicine, University of Lausanne, Lausanne 1005, Switzerland5 Laboratoire de Neurosciences Cognitives et Adaptatives (LNCA), UMR 7364, Universit deStrasbourg-CNRS, Strasbourg, France6 Univ. Lyon, Universit Claude Bernard Lyon 1, Inserm, Stem Cell and Brain Research InstituteU1208, Bron 69500, France7Department of Clinical Neurosciences, Neurorehabilitation Unit, University Hospital CHUV,Lausanne, Switzerland8 Experimental Pharmacology, Center for Molecular Signaling (PZMS), Saarland UniversitySchool of Medicine, 66421, Homburg, Germany9 Univ. Cordoba, IMIBC/HURS, CIBER Fisiopatologa de la Obesidad y Nutricin, Instituto deSalud Carlos III, Cordoba, Spain10 Neuronal Control of Metabolism Laboratory, Institut d'Investigacions Biomdiques August Pi iSunyer (IDIBAPS), 08036 Barcelona, Spain; Centro de Investigacin Biomdica en Red(CIBER) de Diabetes y Enfermedades Metablicas Asociadas (CIBERDEM), 08036 Barcelona,Spain11Department of Genetic Medicine, University Hospitals of Geneva, 4 rue Gabrielle-Perret-Gentil,1211, Genve, Switzerland12 CNRS UMR 7104, INSERM U1258, GenomEast Platform, Institut de Gntique et de BiologieMolculaire et Cellulaire (IGBMC), Universit de Strasbourg, Illkirch, France13 Neurologic Clinic and Polyclinic, MS Centre and Research Centre for Clinical Neuroimmunologyand Neuroscience Basel; University Hospital Basel, University of Basel, Basel Switzerland14 Laboratory for Research in Neuroimaging LREN, Centre for Research in Neurosciences,Department of Clinical Neurosciences, Lausanne University Hospital and University ofLausanne, Switzerland15 Centre National de la Recherche Scientifique, Universit de Strasbourg, Institut desNeurosciences Cellulaires et Intgratives, 67000 Strasbourg, France16 Univ. Bordeaux, Inserm, U1215, Neurocentre Magendie, Bordeaux, France17 Neurology Department, Max-Planck-Institute for Human Cognitive and Brain Sciences, Leipzig,Germany New address, Institute of Cell Biology and Neuroscience and Buchmann Institute for MolecularLife Sciences (BMLS), University of Frankfurt, Max-von-Laue-Str. 15, 60438, Frankfurt am

Main, Germany

# these authors contributed equally

* these authors contributed equally

Science, September 1, 2022

https://doi.org/10.1126/science.abq4515

Contact details

Vincent Prvot

Inserm Research Director

"Development and Plasticity of the Neuroendocrine Brain" team leader

Unit U1172 Lille Neuroscience & Cognition Lille, France

Email:vincent.prevot@inserm.fr

Telephone number provided upon request

Nelly Pitteloud

Professor at Universit de Lausanne

Head of Department, Endocrinology, Diabetology, and Metabolism, CHUV

Email: nelly.pitteloud@chuv.ch

Press contact

presse@inserm.fr

medias@chuv.ch

GnRH replacement rescues cognition in Down Syndrome

1-Sep-2022

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A therapy found to improve cognitive function in patients with Down syndrome - EurekAlert

Ovid Therapeutics has struck a deal with young biotechnology company Gensaic, hoping the startups method of delivering genetic medicines can yield new brain drugs.

Under the deal, the partners will develop up to three gene-based treatments for neurological conditions Ovid is targeting. The New York biotech will get rights to license any gene therapies that emerge from the deal, so long as the two can agree on terms. Ovid also invested $5 million in the startup and committed to participate in future financing rounds.

The deal is the latest step in a rebuilding plan for Ovid, a biotech former Teva and Bristol Myers Squibb executive Jeremy Levin formed seven years ago.

Levins plan in starting Ovid was to grab medicines overlooked elsewhere, license them and develop them for rare brain diseases. That strategy led Ovid to two medicines the company developed for Angelmans syndrome and rare forms of epilepsy, and helped the biotech to go public in 2017.

Ovid hasnt been successful, however. The Angelmans drug failed a Phase 3 trial in 2020, erasing more than half of the companys value. One year later, Ovid, aiming to bolster its dwindling cash reserves, sold rights to the epilepsy drug back to Takeda. Though Ovid can still receive milestone payments and royalties from the drug, which is now in late-stage testing, its only remaining in-house programs are in preclinical testing. At just over $2 apiece, shares trade near all-time lows.

Recently, Ovid has taken steps to restock its pipeline. One experimental medicine for treatment-resistant epileptic seizures could start human trials later this year, while a licensing deal with AstraZeneca and a related partnership with Tufts University could yield other drug candidates that might follow in 2024.

The alliance with Gensaic adds up to three more prospects, while pushing Ovid into the field of gene therapy.

Gensaic was seeded in 2021 as M13 Therapeutics and is currently housed in Cambridge, Massachusetts biotech startup incubator LabCentral. Over the past two years, the company has won awards in multiple startup competitions for its research into a method of gene therapy delivery designed to overcome the limitations of standard approaches.

Many gene therapies rely on modified viruses to send genetic instructions into the bodys cells. Those delivery vehicles are used in multiple products approved for rare inherited diseases, but they also come with weaknesses, too. One commonly used tool, the adeno-associated virus, can only carry a relatively small amount of genetic cargo and is sometimes shut down by the body. Another, the lentivirus, also has limited packaging capacity and has been linked in rare cases to the development of cancers.

Gensaic instead aims to use tiny particles derived from phages, the viruses that infect bacteria, to deliver genetic material. Gensaic claims these particles can be engineered to target multiple tissue types among them the lung and brain and can carry much larger genes. Gensaic believes they may have the potential to be administered more than once, too, though that hasnt yet been proven.

In a statement, Levin said the approach appears to be optimal for carrying substantial genetic cargo across the blood-brain barrier, a filtering mechanism the body uses to keep foreign substances out of the brain.

We believe it may hold the potential to treat a broad continuum of diseases in the brain, Levin said.

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Ovid turns to gene therapy startup to restock drug pipeline - BioPharma Dive

DENVER, Aug. 29, 2022 /PRNewswire/ --The Morris Animal FoundationGolden Retriever Lifetime Studyhas reached its 10-year milestone a decade of gathering data and biological samples to inform canine health studies for many years to come.

The Golden Retriever Lifetime Study is one of the most comprehensive studies of its kind ever undertaken in veterinary medicine. The longitudinal study, following the lives of more than 3,000 golden retrievers, is the largest study funded by the Foundation in its mission to improve the health and well-being of animals around the world.

"We're proud of the Golden Retriever Lifetime Study and how it is advancing canine health," said Tiffany Grunert, President/CEO. "It's taken an incredible amount of commitment from our Study families, partner veterinarians and, of course, our hero dogs. Without their dedication, this study simply would not be possible."

Owners and veterinarians fill out comprehensive questionnaires annually, and veterinarians also collect biological samples at each dog's annual visit. In addition, all dogs have been genotyped, contributing valuable data to better understand genetic associations with disease and health. The commitment from the Study's participants provides researchers with valuable data and samples, leading to expanded research opportunities in cancer and other areas, including:

Seven scientific papers have been published since the Study began, focusing on topics such as thestructure of the Studyand a closer look at thebaseline demographics of the cohort. A 2019 paper from Embark Inc. used data from the Study to showthe effect of inbreeding on fertility. Another paper investigated the relationship betweentiming of spay/neuter and the development of obesity and non-traumatic orthopedic injury. The most recent paper, published in Canine Medicine and Genetics, reports on environmental exposures and lymphoma risk in dogs using data from the Study.

Currently, cancer is the leading cause of death in Study dogs, accounting for 75% of all deaths. Of the primary cancer endpoints, the largest contributor to those deaths is hemangiosarcoma. Based on outcomes to date, Morris Animal Foundation will be funding future work to develop diagnostics and therapeutics, and to identify genetic contributors to hemangiosarcoma. Researchers will be able to use the samples collected from dogs diagnosed with hemangiosarcoma to potentially develop early screening and/or diagnostic tests as well as understand possible genetic links.

The Golden Retriever Lifetime Study team promotes collaborative research using Study data and samples with scientists from around the world to advance the prevention, diagnosis and treatment of cancer and other major health conditions in dogs.

"The Golden Retriever Lifetime Study is such a rich source of scientific data," said Grunert. "We're encouraged by what we have accomplished thus far but know it's the tip of the iceberg in terms of what we can learn."

About Morris Animal Foundation

Founded in 1948, Morris Animal Foundation is one of the largest nonprofit animal health research organizations in the world, funding more than $149 million in critical studies across a broad range of species. Learn more at morrisanimalfoundation.org.

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Morris Animal Foundation Golden Retriever Lifetime Study Celebrates 10 Years - PR Newswire

By performing a DNA comparison of two similar jellyfish species, researchers have found the genes that could stop and reverse ageing in immortal jellyfish

By Jason P. Dinh

One jellyfishs regeneration powers seem linked to key genetic changes.

Roy Ensink Photography

An immortal species of jellyfish has double copies of genes that protect and repair DNA. The finding could provide clues to human ageing and age-related conditions.

Jellyfish start their lives as drifting larvae. They eventually attach to the seafloor and develop into sprout-like polyps. The bottom-dwellers clone themselves, forming stacked, sedentary colonies that bud off into free-swimming umbrella-shaped medusas.

That stage is a dead end for most jellyfish but the immortal jellyfish (Turritopsis dohrnii) can reverse the cycle. When times get tough,like in harsh environments or after injury, they melt their bodies into amorphous cysts, reattach to the seafloor and regress into polyps. They can restart the cycle indefinitely to skirt death by old age.

To find out how the immortal jellyfish staves off aging, Maria Pascual-Torner at the University of Oviedo in Spain and her colleagues sequenced its genome its full set of genetic instructions and compared it to that of the related but mortal crimson jellyfish (Turritopsis rubra).

They found the immortal jellyfish had twice as many copies of genes associated with DNA repair and protection. These duplicates could produce greater amounts of protective and restorative proteins. The jellyfish also had unique mutations that stunted cell division and prevented telomeres chromosomes protective caps from deteriorating.

Then, to pinpoint how T. dohrnii reverts into polyp form, the scientists looked at which genes were active during this reverse metamorphosis. They found the jellies silenced developmental genes to return cells to a primordial state and activated other genes that allow the nascent cells to re-specialise once a new medusa buds off. Together, Pascual-Torner says, these genetic alterations shield the animal from the weathering of time.

But Maria Pia Miglietta at Texas A&M University at Galveston points out that the crimson jellyfish can also rejuvenate, just not as commonly as T. dohrnii. Using them for comparison might reveal differences in the degree of immortality rather than the key to immortality itself, she says.

Still, Pascual-Torner says the genes they identified could be relevant to human ageing. They could inspire regenerative medicine or provide insights into age-related diseases like cancer and neurodegeneration. The next step is to explore these gene variants in mice or in humans, she says.

Journal reference: Proceedings of the National Academy of Sciences, DOI: 10.1073/pnas.2118763119

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Immortal jellyfish genes identified that may explain their long lives - New Scientist

Its an impressive thing, an absolute revolution for medicine, he says. Osvaldo Podhajesarmolecular biologist who integrates Leloir Institute who with their team are almost the only ones who investigate gene treatment in Argentina. These treatments are based on the concept of being able to modify a cell at the genetic level so that a disease can be reversed. Some examples that show how disruptive these treatments are are patients. Spinal Muscular Atrophy (SMA) those who sit or walk, those who progress to blindness from Alzheimers disease Labour and regained vision or those that were somehow cured leukemia, In that league, where science thins some fictional stories, it is this type of therapy at play that represents a unique window toward a new opportunity for thousands of people.

One of the possible techniques for performing this type of therapy is described by Hernan Martinoboss Scientific researcher from the University Hospital of Australias Pediatric Neurology and the Argentine Federation of Rare Diseases (Fedepof)Genetically modified is to administer genetic material to the patient by means of a viral vector. This modified virus, which also removed the possibility of being pathogenic, is the one that enters the cells and corrects the error.

What three criminal lines can child death investigators pursue in Crdoba?

for its part, Susanna Baldinimedical director of the Argentine Chamber of Medicinal Specialties (Caeme)who, among other topics, talked about gene therapies at the first meeting of media and pharmawhich took place in Mendoza, in which they participated Country, show that the nucleus of the cell contains chromosomes, which are formed by genes. With each chromosome having two pairs, it is possible that one or both are mutated. Dominant diseases require only one copy to be abnormal to develop in the individual, whereas recessive diseases require both copies to be mutated. And those errors or mutations are what this type of therapy tries to correct.

A little history

Podhajaser Explains that the first clinical trials of gene therapy took place in 1990 and involved genetically modifying the T lymphocytes of a girl who suffered from an immunodeficiency linked to the ADA (adenosine deaminase) gene. In boys who suffer from this disease, their immune system does not work properly and they have to stay in isolation. Since then, thousands of clinical studies have been conducted in this discipline, used in congenital metabolic diseases (where the mutated gene is known to be unable to produce normal proteins) and in more complex diseases such as cancer or neurodegenerative diseases. . ,

,Gene therapy has made remarkable progress And these children with mutations in the ADA gene can have gene therapy and can now lead normal lives with their reorganized immune systems. But advances in gene therapy have occurred not only in this disease in particular, but also extend to retinopathy, where people with blindness have regained their vision as if Leber congenital amaurosis. In this case, the RP65 gene is directly delivered to the retina. or with friends spinal muscular atrophy One who cannot sit can do so again after receiving specific gene therapy of the mutated gene which is also administered using viral vectors, he details. Podhajaser,

amartino Recalls a case of a patient in the late 1990s who was treated for a disease OTC, which had a very severe immune reaction to the vector and died. This delayed many other research related to gene therapy. However, later studies continued and today the results are generally very successful. Of course, he claims amartinoThere is still not enough time to know if these treatments will have any effect for long-term use.

two types of gene therapy

On the one hand, this description amartinothere are in vivo therapy, In this type of therapy, the viral vector that transfers the gene can be applied directly to the organ or tissue where the disease is most affected.

Instead, in ex vivo Stem cells are taken from the patient, we modify them and we insert a new gene into them. Then we re-infect the previously modified cells. Its Like an Autotransplant, For that you have to first give him chemo and remove all his white blood cells. Whether one type of therapy or the other is used will depend on the patients disease, although there are diseases for which both methods are investigated, says the expert.

An example of an ex vivo therapy is CAR-T. is used, It is a cellular gene therapy where cells are taken from the patient and they are genetically manipulated so that they can attack the malignant cells. So the patient kills his own cancer. For now this type of treatment is mainly used for certain types of leukemia., he argues baldini,

Podhajaser warns that the use of car-t It is a treatment that, although it is already used, is very complex. An appropriate laboratory is required to modify these cells with the gene of interest. After modification, the cells are kept in the laboratory for some time and reintroduced to the patient. The patient must be close to that laboratory and the cells cannot be shipped from Argentina to the United States because they will not arrive properly.

another problem of car-tadd Podhajaser Like conventional cancer therapy, the tumor has resistance over time. CAR-Ts are usually directed against a specific protein that they recognize and use to attack the malignant cell. Unfortunately, tumors can recur from cells that do not express this protein and thus survive treatment.

The third drawback is that car-t They do not work as a sole treatment in solid tumors, which are the most frequent tumors. And the reasons are simple: they work so well in hematopoietic tumors because they are cells that do not form a compact tumor tissue, unlike most cancers. And CAR-T just cant enter the tumor, he explains. Podhajaser,

Innovative, but too expensive

One of the issues with these treatments is cost. Millions of dollars are being invested in research and development for hundreds of rare diseases, but this high level of investment is inevitably going to make the treatments very expensive, he laments. express. amartino,

In Argentina, there was a case demonstrating the complexity of obtaining sufficient funding for this type of treatment. Emma, the child who suffered from SMA type 2 and required US$2,100,000 worth of medication from the Novartis laboratory. In order to increase that amount, the influential person Santiago Marata launched the campaign Everyone with Emmita.

,Gene therapy far too expensive, on the order of hundreds of thousands of dollars. Many of the accepted gene therapies either cure a person with a previously incurable disease, or significantly increase their quality of life. To address the payment for these treatments, what is being achieved is negotiations between developing companies and states, because being rare diseases, there are not so many patients who need these treatments, he says. . Podhajaser,

with your colleague, baldini Gives the example of Spain, where there is a shared risk scheme between companies and the state. If they give treatment to the patient and it is not successful, they do not pay for the said treatment.

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Walk Again Or Stop Blindness. How Gene Therapy Is Revolutionizing Medicine - Nation World News