UBE3A

The Angelman Syndrome Foundation (ASF) and Cedars-Sinai Guerin Children's team up to launch new clinic for families living with Angelman syndrome

Retrieved on: 
Tuesday, February 20, 2024
Social work, Angelman syndrome, Diet, Physician, Rush University Medical Center, Prader–Willi syndrome, Hope, Common, Occupational therapy, Cedars-Sinai Medical Center, Genetics, DSM-IV codes, Walking, Patient, MPH, Speech, Spectrum, Cerebral palsy, UBE3A, Neurology, Gastroenterology, Seizure, Pharmaceutical industry

AURORA, Ill., Feb. 20, 2024 /PRNewswire-PRWeb/ -- The Angelman Syndrome Foundation is proud to announce a new collaboration with Cedars-Sinai Guerin Children's to launch a new clinic for patients with Angelman syndrome, a rare neuro-genetic disorder.

Key Points: 
  • The Angelman Syndrome Foundation is proud to announce a new collaboration with Cedars-Sinai Guerin Children's to launch a new clinic for patients with Angelman syndrome, a rare neuro-genetic disorder.
  • AURORA, Ill., Feb. 20, 2024 /PRNewswire-PRWeb/ -- The Angelman Syndrome Foundation is proud to announce a new collaboration with Cedars-Sinai Guerin Children's to launch a new clinic for patients with Angelman syndrome, a rare neuro-genetic disorder.
  • The clinic is led by Cesar Ochoa-Lubinoff, MD, MPH , director of Developmental-Behavioral Pediatrics at Cedars-Sinai Guerin Children's, who previously co-directed the Angelman syndrome clinic at Rush University Medical Center in Chicago.
  • "In my experience, families facing Angelman syndrome are resilient, but they need a supportive medical team in place," Ochoa-Lubinoff said.

Ultragenyx Receives PRIME Designation from European Medicines Agency (EMA) for GTX-102 for the Treatment of Angelman Syndrome

Retrieved on: 
Monday, February 5, 2024
European Medicines Agency, Cognition, Patient, Angelman syndrome, Communication, UBE3A, EMA

NOVATO, Calif., Feb. 05, 2024 (GLOBE NEWSWIRE) -- Ultragenyx Pharmaceutical Inc. (NASDAQ: RARE) today announced that the European Medicines Agency (EMA) has granted Priority Medicine (PRIME) designation to GTX-102 for the treatment of Angelman syndrome (AS). GTX-102 is an investigational antisense oligonucleotide delivered via intrathecal administration and is designed to target and inhibit expression of UBE3A antisense transcript (UBE3A-AS). The EMA granted this designation in response to compelling early clinical data from the extension cohorts in the Phase 1/2 study of GTX-102 demonstrating clinically meaningful improvements in several neurodevelopmental domains including cognition, receptive communication and gross motor skills in individuals with Angelman syndrome.

Key Points: 
  • Phase 1/2 study fully enrolled; expansion data expected in first half of 2024
    NOVATO, Calif., Feb. 05, 2024 (GLOBE NEWSWIRE) -- Ultragenyx Pharmaceutical Inc. (NASDAQ: RARE) today announced that the European Medicines Agency (EMA) has granted Priority Medicine (PRIME) designation to GTX-102 for the treatment of Angelman syndrome (AS).
  • GTX-102 is an investigational antisense oligonucleotide delivered via intrathecal administration and is designed to target and inhibit expression of UBE3A antisense transcript (UBE3A-AS).
  • "By granting PRIME designation, the EMA is recognizing the potential for GTX-102 to address the critical need for new treatments for children and families impacted by Angelman syndrome in the EU,” said Eric Crombez, M.D., chief medical officer at Ultragenyx.
  • These medicines are considered priority medicines by the EMA, whose aim is to optimize development plans and speed up evaluations so these medicines that address significant unmet medical needs can reach patients faster.

Ultragenyx Announces Completion of Enrollment in Global Phase 1/2 Trial of GTX-102 in Pediatric Patients with Angelman Syndrome

Retrieved on: 
Wednesday, January 3, 2024
Quality of life, UBE3A, Angelman syndrome, Patient, Natural history, Safety, Cohort, Șaeș, EEG, Pharmaceutical industry

The dose-expansion cohorts (Cohorts A-E) have enrolled 53 patients for a total of 74 patients enrolled globally in the Phase 1/2 trial.

Key Points: 
  • The dose-expansion cohorts (Cohorts A-E) have enrolled 53 patients for a total of 74 patients enrolled globally in the Phase 1/2 trial.
  • GTX-102 is an investigational antisense oligonucleotide delivered via intrathecal administration and is designed to target and inhibit expression of UBE3A antisense transcript (UBE3A-AS).
  • “With completion of enrollment in the Phase 1/2 trial, we remain on track to report results in the first half of 2024 from at least 20 expansion cohort patients on therapy for a minimum of 6 months.
  • Long-term data showed patients who stopped and restarted treatment reacquired previously gained developmental skills when they were re-dosed with the current regimen.

Charles River Laboratories’ Industry Experts to Present Advanced Modalities at Neuroscience 2023

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Thursday, November 9, 2023
Research, Medical Devices, Neurology, Biotechnology, Other Health, Health, Pharmaceutical, General Health, Science, Psilocybin, Duchenne muscular dystrophy, DC, NYSE, Region, UBE3A, ASO, Neuron, Booth, Treatment, Neurodegenerative disease, Microglia, Doctor of Philosophy, Society, CRL, Artificial intelligence, Mouse, Chemotaxis, Functional ultrasound imaging, Drug discovery, Partnership, Machine learning, B cell, Master of Science, Phenotype, Phagocytosis, Patient, Pharmaceutical industry, Medical device, Medical imaging, Flour, Neuroscience, Logica

Charles River Laboratories International, Inc. (NYSE: CRL) today announced that its team of neuroscience drug discovery experts will present 19 scientific posters, both independently and collaboratively with clients, at Neuroscience 2023, the annual meeting of the Society for Neuroscience (SfN).

Key Points: 
  • Charles River Laboratories International, Inc. (NYSE: CRL) today announced that its team of neuroscience drug discovery experts will present 19 scientific posters, both independently and collaboratively with clients, at Neuroscience 2023, the annual meeting of the Society for Neuroscience (SfN).
  • “Neuroscience is one of the most complex areas of drug discovery,” Antti Nurmi, PhD, MSc, Regional General Manager, Europe, Charles River.
  • These innovations will ultimately accelerate success in this critical field of drug development.”
    Throughout the conference, Charles River experts will present posters and host discussions on the latest developments in neuroscience research and innovative approaches to tackling neurodegenerative disorders.
  • Additionally, experts will be available at Booth #1717 for meetings with those interested in discussing neuroscience research and drug discovery.

Couragene Co-founders Developing Gene Editing Technology for Genetic Diseases Awarded Major Federal Grant

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Tuesday, October 10, 2023
Research, FDA, Genetics, Stem Cells, Biotechnology, Health, Pharmaceutical, Science, Oncology, SCGE, Acquisition, Angelman syndrome, Genome, Central nervous system, Trace (linear algebra), STEP, Patient, Gene editing, UBE3A, DSM-IV codes, Yale University, Rush University, NIH, Pharmaceutical industry, Vaccine

This monumental grant, totaling roughly $40 million contingent on milestones, marks a momentous step forward in leveraging genome editing to combat neurogenetic diseases.

Key Points: 
  • This monumental grant, totaling roughly $40 million contingent on milestones, marks a momentous step forward in leveraging genome editing to combat neurogenetic diseases.
  • Leveraging the STEP technology, a team led by Professors Jiang and Zhou devised a precise genome editing approach directly addressing the disease-causing genetic defects.
  • Couragene exclusively licensed these innovative technologies and is poised to make a profound and lasting impact on the future treatment of genetic disorders.
  • Couragene is a biotechnology company committed to building first-in-class in vivo genetic therapies using its proprietary delivery platforms.

Global Rat Model Market Report 2022: An Increasing Number of Advancements Within the Rat Model Drives Growth - ResearchAndMarkets.com

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Thursday, December 15, 2022
Science, Health, Other Science, Other Health, Social behavior, AS, Rat, Disorder, Behavior, Angelman syndrome, Toxicology, Genomics, Human, DNA, Neoplasm, RATS, Mouse, Neurology, UBE3A, Toxicity, Ageing, Gene, Research, Genome, Blood, Brain, Apple Type Services for Unicode Imaging, Medical device, Vaccine, Immunology

The Global Rat Model Market size is expected to reach $1.7 billion by 2028, rising at a market growth of 7.4% CAGR during the forecast period.

Key Points: 
  • The Global Rat Model Market size is expected to reach $1.7 billion by 2028, rising at a market growth of 7.4% CAGR during the forecast period.
  • The laboratory rat has been the model of choice in a number of biological areas for decades.
  • The mapping and genomics of the rat genome have advanced significantly during the past few decades.
  • In addition, a rat model of AS has advantages over a mouse model because the social behavior of rats is more human-like than that of mice.

FOUNDATION FOR ANGELMAN SYNDROME THERAPEUTICS (FAST) ANNOUNCES SALE OF ITS SHARES IN GENETX TO ULTRAGENYX

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Monday, July 18, 2022
Research, Acquisition, Epilepsy, Therapy, View, Foundation, Trial of the century, AS, United Kingdom, FAST, Caregiver, Genetic disorder, Biotechnology, Multimedia, Industry, Sale, Government budget balance, Partnership, UBE3A, Feeding disorder, University, Pharmaceutical industry, Cryptocurrency, Ultragenyx, Angelman syndrome

AUSTIN, Texas, July 18, 2022 /PRNewswire/ -- The Foundation for Angelman Syndrome Therapeutics (FAST) today announced that Ultragenyx Pharmaceutical Inc. has exercised its exclusive option to acquire GeneTx Biotherapeutics LLC, a biotechnology company founded and launched by FAST, and has closed on the acquisition. Since 2019, GeneTx and Ultragenyx have partnered on the clinical development of GTX-102. The acquisition signals a critical step forward in support of FAST's mission to foster the development of treatments for Angelman syndrome (AS), a rare and debilitating neurogenetic disorder that impacts approximately one in 15,000 individuals. 

Key Points: 
  • Since 2019, GeneTx and Ultragenyx have partnered on the clinical development of GTX-102.
  • In 2017, FAST launched GeneTx Biotherapeutics LLC to develop an investigational antisense oligonucleotide, GTX-102, for the treatment of AS.
  • Angelman Syndrome is a rare genetic disorder characterized by developmental delays, epilepsy, and problems with motor coordination and balance.
  • FAST is a Section 501(c)(3) non-profit research organization narrowly focused on funding research that holds the greatest promise of treating Angelman Syndrome.

GeneTx and Ultragenyx Announce Presentations at Upcoming 2021 FAST Global Summit & Gala

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Wednesday, December 1, 2021
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The hybrid event will take place December 2-4 with additional information available at the FAST Global Summit & Gala website .

Key Points: 
  • The hybrid event will take place December 2-4 with additional information available at the FAST Global Summit & Gala website .
  • The Vineland-3 is completed at baseline, at last dose, and at one or more later time points during the follow-up period.
  • In August 2019, GeneTx and Ultragenyx announced a partnership to develop GTX-102, with Ultragenyx receiving an exclusive option to acquire GeneTx.
  • GeneTx was launched by FAST, a patient advocacy organization and the largest non-governmental funder of Angelman syndrome research.

FAST, ASF, Dup15q and FPWR Unite to Fund Newborn Screening Grant

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Tuesday, November 2, 2021
FAST, Foundation, NBS, Prader–Willi syndrome, DNA methylation, Natural history, PWS, Multimedia, Physical, Therapy, Prevalence, Wake Forest School of Medicine, Research, Diagnosis, Behavior, Dup15q, Infant, Duke University, View, Chapel Hill, Polyphagia, Epilepsy, Education, MECP2 duplication syndrome, University of North Carolina at Greensboro, C15, Intellectual disability, The Early Beatles, Public health, Alliance, Growth, Awareness, Genetic disorder, Hunger, DNA, University, NC, RTI, Autism, Eating, Adult, Hypotonia, RTI International, Body composition, Parent, ASF, UBE3A, Pharmaceutical industry, Residential care

Led by RTI International, Early Check will support the infrastructure necessary to add Angelman syndrome, Prader-Willi syndrome, and Dup15q syndrome to the Newborn Screening Panel.

Key Points: 
  • Led by RTI International, Early Check will support the infrastructure necessary to add Angelman syndrome, Prader-Willi syndrome, and Dup15q syndrome to the Newborn Screening Panel.
  • Angelman syndrome, Prader-Willi syndrome and Dup15q are collectively recognized as chromosome 15 (C15) conditions.
  • Angelman syndrome, Prader-Willi syndrome and Dup15q are targets for emerging therapeutics, including promising disease-modifying strategies, that can potentially benefit greatly from early diagnosis.
  • Early Check was developed to create the necessary infrastructure for rare diseases to be included in the Newborn Screening Panel.

Taysha Gene Therapies Announces Publication of Positive Proof-of-Concept Preclinical Data for an AAV-mediated UBE3A Gene Replacement Approach Demonstrating Therapeutic Potential for The Treatment of Angelman Syndrome in the Journal JCI Insight

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Monday, October 25, 2021
Biotechnology, Pharmaceutical, Genetics, Health, Lists of diseases, Quality of life, MRCP, Disease, American Society for Clinical Investigation, Neuron, Drug development, CNS, Common, Disability in Canada, Patient, FFPM, Private Securities Litigation Reform Act, FDA, RNA, SEC, Walking, Degenerative disease, Natural history, Annual report, MRCPCH, AAV, Internet, Angelman syndrome, JCI, Forward-looking statement, Seizure, U.S. Securities and Exchange Commission, COVID-19, Laboratory, Gene, Development, Nasdaq, University of Texas Southwestern Medical Center, Epilepsy, Central nervous system, Neurodevelopmental disorder, Associate, Journal, UBE3A, Pharmaceutical industry, Vaccine

Angelman syndrome (AS) is a monogenic neurodevelopmental disorder caused by deletions or mutations in the maternal ubiquitin protein ligase E3A (UBE3A) gene.

Key Points: 
  • Angelman syndrome (AS) is a monogenic neurodevelopmental disorder caused by deletions or mutations in the maternal ubiquitin protein ligase E3A (UBE3A) gene.
  • We are highly encouraged by our preclinical data demonstrating recovery in motor performance, epilepsy, and anatomical markers, supporting the potential of UBE3A gene replacement for the treatment of Angelman syndrome.
  • Tayshas UBE3A gene replacement therapy is a cerebrospinal fluid-delivered AAV vector enabling dual isoform UBE3A expression for the treatment of Angelman syndrome.
  • In preclinical mouse models of Angelman syndrome, AAV-mediated UBE3A gene replacement recapitulated endogenous UBE3A isoform expression and UBE3A subcellular expression in neurons.