STXBP1

Capsida Biotherapeutics Presents New Preclinical Evidence Indicating Novel First-in-Class IV-Administered Gene Therapy Effectively Treats Genetic Epilepsy Due to STXBP1 Mutations

Retrieved on: 
Tuesday, May 7, 2024
Doctor of Philosophy, Brain, Traffic barrier, Mouse, Phenotype, Poster, MD, Model, Cell, Deficit spending, Associate professor, STXBP1, AAV, DSM-IV codes, Vivisection, Genetics, Disease, Patient, Liver, Baylor College of Medicine, Society, Gene, Treatment, Neurology, Seizure, Gene expression, Neuron, Annual general meeting, Texas Children's Hospital, Baylor University, Baltimore Convention Center, Vaccine

THOUSAND OAKS, Calif., May 7, 2024 /PRNewswire/ -- Capsida Biotherapeutics ("Capsida") today announced new preclinical data supporting the potential of Capsida's gene therapy candidate, CAP-002, to achieve levels of gene supplementation necessary to correct neurological phenotypes associated with genetic epilepsy due to syntaxin-binding protein 1 (STXBP1) mutations.

Key Points: 
  • Gene therapy for genetic epilepsy due to STXBP1 mutations has not been previously possible because earlier generation adeno-associated viruses (AAVs) or wild-type AAVs could not achieve the level of widespread neuronal transduction required to modify the disease.
  • CAP-002 is a first-in-class next-generation intravenous (IV)-administered gene therapy that achieves brain-wide neuronal expression while simultaneously detargeting the liver.
  • Capsida's wholly owned program is currently in IND-enabling studies and is expected to enter the clinic in the first half of 2025.
  • This level of gene expression raises neuronal STXBP1 protein to levels comparable to those that reversed disease phenotype in the mouse model.

Capsida Biotherapeutics to Present New Data on its Wholly Owned Gene Therapy Programs in Genetic Epilepsy and Parkinson's Disease at the Annual Meeting of the American Society of Gene & Cell Therapy (ASGCT)

Retrieved on: 
Monday, April 22, 2024
Doctor of Philosophy, Brain, Parkinson's disease, Mouse, Glucocerebrosidase, Poster, Abstract (summary), MD, Cell, Associate professor, STXBP1, AAV, CNS, Genetics, Liver, Gene, Society, Central nervous system, GBA, NHP, Annual general meeting, Baylor University, Vaccine

THOUSAND OAKS, Calif., April 22, 2024 /PRNewswire/ -- Capsida Biotherapeutics ("Capsida"), a leading fully integrated targeted gene therapy company, developing treatments for rare and common diseases across all ages, today announced eight presentations – three oral presentations and five poster presentations – at the American Society of Gene & Cell Therapy (ASGCT) 2024 Annual Meeting, taking place May 7-11, 2024 in Baltimore, MD and virtually.

Key Points: 
  • "We are excited to unveil our PD-GBA program and new data on our STXBP1 program as part of oral presentations at ASGCT," said Peter Anastasiou, Capsida's Chief Executive Officer.
  • "Both development candidates are IV-administered and achieve breakthrough levels of neuronal transduction throughout the brain, up to 70% in certain brain regions, while simultaneously detargeting the liver.
  • Data from the oral presentations are embargoed until 6:00 AM ET on the presentation day.
  • Presenter: Nicholas Flytzanis, Ph.D., Founder, Chief Research and Innovation Officer, Capsida

Orphan designation: Glycerol phenylbutyrate Treatment of STXBP1 developmental and epileptic encephalopathy, 13/10/2023 Positive

Retrieved on: 
Sunday, February 4, 2024
COMP, STXBP1, IRIS, EMA, European Commission, Patient, Committee, Pharmaceutical industry

Key facts

Key Points: 
  • Key facts
    - Active substance
    - Glycerol phenylbutyrate
    - Intended use
    - Treatment of STXBP1 developmental and epileptic encephalopathy
    - Orphan designation status
    - Positive
    - EU designation number
    - EU/3/23/2842
    - Date of designation
    - Sponsor
    Immedica Pharma AB
    Patients' organisations
    For contact details of patients’ organisations whose activities are targeted at rare diseases, see:
    European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.
  • EU register of orphan medicines
    The list of medicines that have received an orphan designation in the EU is available on the European Commission's website:
    EMA list of opinions on orphan medicinal product designation
    EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:

$25 Million Gift to Penn Medicine and Children's Hospital of Philadelphia Establishes Center for Epilepsy and Neurodevelopmental Disorders

Retrieved on: 
Tuesday, February 7, 2023
Health system, Department of Neurology, Xuanwu hospital, Mutation, Pathology, Trustee, NDD, Perelman School of Medicine at the University of Pennsylvania, Erlanger Health System, Epilepsy, Hope, ENGIN, DSM-IV codes, Diagnosis, Disorder, Neurodevelopmental disorder, Seizure, Physiology, Patient, Hospital, CRISPR, Division, Penn Presbyterian Medical Center, University, Research, Neurology, Intellectual, Genomics, Therapy, CHOP, Children's Hospital of Philadelphia, SYNGAP1, Raymond, STXBP1, ASO, Partnership, Penn, Davidson, Multimedia, Intellectual disability, Doctor of Philosophy, MD, Pharmaceutical industry, Medicine

PHILADELPHIA, Feb. 7, 2023 /PRNewswire/ -- A $25 million gift from an anonymous donor to Penn Medicine and Children's Hospital of Philadelphia (CHOP) will establish the Center for Epilepsy and Neurodevelopmental Disorders (ENDD), accelerating collaborative research in genetic therapies for neurodevelopmental disorders.

Key Points: 
  • PHILADELPHIA, Feb. 7, 2023 /PRNewswire/ -- A $25 million gift from an anonymous donor to Penn Medicine and Children's Hospital of Philadelphia (CHOP) will establish the Center for Epilepsy and Neurodevelopmental Disorders (ENDD), accelerating collaborative research in genetic therapies for neurodevelopmental disorders.
  • "This important gift will accelerate the progress of an extraordinary partnership between Penn and CHOP that demonstrates the power of collaboration and a commitment to finding cures.
  • "CHOP and Penn have systematically invested in integrated care programs for genetic epilepsies and neurodevelopmental disorders.
  • View original content to download multimedia: https://www.prnewswire.com/news-releases/25-million-gift-to-penn-medicin...
    SOURCE Children's Hospital of Philadelphia; University of Pennsylvania School of Medicine

Invitae and Simons Searchlight Partner to Accelerate Research through Data Sharing

Retrieved on: 
Monday, September 12, 2022
Health, Time, Lists of diseases, NYSE, Simons Foundation, Growth, Degenerative disease, Private Securities Litigation Reform Act, SYNGAP1, Partnership, Forward-looking statement, U.S. Securities and Exchange Commission, Patient, SCN2A, Data collection, Technology, STXBP1, Roger Hawkins (drummer), NDD, Annual report, Data, Diagnosis, Caregiver, SAN, Research, Natural history, Security (finance), SLC6A1, Disease, Autism, Pharmaceutical industry, Invitae

SAN FRANCISCO, Sept. 12, 2022 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, today announced a collaboration with Simons Searchlight, an international research program with a goal of accelerating research and improving lives for people with rare genetic neurodevelopmental disorders. This partnership will connect two sets of data – the longitudinal clinical data extracted from medical records through Invitae's Ciitizen, a patient-consented, digital natural history data platform and patient reported outcomes and biospecimens collected by Simons Searchlight. The partnership breaks down data silos and provides a rich and deep dataset that will help accelerate research for rare neurodevelopmental diseases.

Key Points: 
  • The partnership breaks down data silos and provides a rich and deep dataset that will help accelerate research for rare neurodevelopmental diseases.
  • "Joining forces with Invitae is incredibly powerful for patients with rare diseases," said Jennifer Tjernagel, M.S., senior project manager at Simons Searchlight, Simons Foundation.
  • Charlene Son Rigby, president and co-founder of STXBP1 Foundation shared, "We are thrilled to partner with Invitae and Simons Searchlight on this initiative.
  • The relationship allowed consenting patients to link their de-identified Invitae Ciitizen data with the Simons Searchlight database to accelerate understanding of patients with STXBP1 disorder.

The Mission and Legacy of The Caroline School

Retrieved on: 
Friday, August 5, 2022
Multimedia, Applied behavior analysis, STXBP1, Diagnosis, Learning, Education, View, DeLuca, Parent, Multiple disabilities, Student, Music, Humour, Goal, Tutoring

/PRNewswire/ -- Ahardworking and determined mother of 4 was on the hunt for a school for her youngest daughter, Caroline.

Key Points: 
  • /PRNewswire/ -- Ahardworking and determined mother of 4 was on the hunt for a school for her youngest daughter, Caroline.
  • Caroline will inspire a school that sees a child's strengths, not only their challenges, and encourages them to reach for more.
  • These major accomplishments speak to the mission of The Caroline School, working with families to create personalized instruction to help students reach their goals.
  • The Caroline School has open enrollment for the 2022-2023 school year.

Rarebase launches a neuroscience drug discovery platform collaborating with 15 rare disease patient organizations

Retrieved on: 
Tuesday, September 14, 2021
Science, Andrew Kerr (festival co-founder), Drug discovery, CEO, FDA, Technology, Genetic testing, Silk, Function, Patient, Gene, STXBP1, Autism, Founder, Disease, Entrepreneurship, Neurodegeneration, Degenerative disease, Multimedia, Israel Cancer Research Fund, PALO, Steel, Lists of diseases, Organization, Oklahoma Medical Research Foundation, Life, Lightning, Pharmaceutical industry

PALO ALTO,Calif., Sept. 14, 2021 /PRNewswire/ --Rarebase, a public benefit biotechnology company, launched a tech-enabled drug discovery platform called Function.

Key Points: 
  • PALO ALTO,Calif., Sept. 14, 2021 /PRNewswire/ --Rarebase, a public benefit biotechnology company, launched a tech-enabled drug discovery platform called Function.
  • "Function is finally doing justice to how we need to approach finding answers for rare diseases," said Penny Howard.
  • "We're thrilled to be actively collaborating with rare disease patient organizations.
  • "Rarebase is pushing the limits of science and innovating a financial structure that allows patient organizations to directly support drug discovery," said Mike Graglia, the Founder and Managing Director of the SynGAP Research Fund.