Fragile X syndrome

Brain & Behavior Research Foundation Awards Distinguished Investigator Grants Valued at $1 Million to 10 Scientists Pursuing Innovative Mental Health Research

Retrieved on: 
Thursday, April 4, 2024
Depression, Patient, Mitochondrion, Doctor of Science, Harvard University, Therapy, Research, Risk, Mental health, University of Pittsburgh, Brain, DSM-IV codes, Brown University, Cannabis, Memory, Safety, Spectrum, Mitophagy, Schizophrenia, Hippocampus, Bipolar disorder, Anxiety, Learning, University, Psychopathology, Cerebrospinal fluid, University of California, Distinguishing, PET, Biomarker, Hope, Baylor College of Medicine, Behavior, AMPA, Fragile X syndrome, PTSD, Pharmaceutical industry

New York, April 04, 2024 (GLOBE NEWSWIRE) -- The Brain & Behavior Research Foundation (BBRF) today announced it is awarding Distinguished Investigator Grants valued at $1 million to 10 senior-level scientists who are conducting innovative projects in neurobiological and behavioral research.

Key Points: 
  • New York, April 04, 2024 (GLOBE NEWSWIRE) -- The Brain & Behavior Research Foundation (BBRF) today announced it is awarding Distinguished Investigator Grants valued at $1 million to 10 senior-level scientists who are conducting innovative projects in neurobiological and behavioral research.
  • By funding transformative research focused on new ways to prevent, diagnose, and treat psychiatric disorders, our Distinguished Investigator Grants are encouraging established scientists to continue advancing our understanding of mental illness and disorders of brain and behavior,” says Jeffrey Borenstein, M.D., President and CEO of the Brain & Behavior Research Foundation.
  • The ground-breaking work of the Distinguished Investigator Grant recipients will bring hope and healing to people and families impacted by mental illness.
  • We applaud these scientists for their extraordinary dedication, innovation, and leadership.”
    Recipients of the Distinguished Investigator Grants are full professors at research institutions in the United States and abroad.

Orphan designation: Glycyl-L-2-methylprolyl-L-glutamic acid Treatment of fragile X syndrome, 28/07/2015 Positive

Retrieved on: 
Tuesday, April 9, 2024
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Orphan designation: Glycyl-L-2-methylprolyl-L-glutamic acid Treatment of fragile X syndrome, 28/07/2015 Positive

Key Points: 


Orphan designation: Glycyl-L-2-methylprolyl-L-glutamic acid Treatment of fragile X syndrome, 28/07/2015 Positive

Quest Diagnostics and Broad Clinical Labs to Evaluate Whole Genome Sequencing as First-Line Genetic Test for Developmental Delay

Retrieved on: 
Tuesday, April 2, 2024
Diagnosis, WGS, Disease, FACMG, Broad Institute, Genetic testing, Fragile X syndrome, Massachusetts General Hospital, MIT, Harvard University, CMA, Patient, Medical genetics, Research, Mortality, Laboratory, DGX, Senior, Genome, American College, Saliva, Intellectual disability, Hospital, Whole genome sequencing, ACMG, Blood, Quest Diagnostics, Antibiotics

SECAUCUS, N.J., April 2, 2024 /PRNewswire/ -- Quest Diagnostics (NYSE: DGX), a leader in diagnostic information services, and Broad Clinical Labs, the world expert in whole genome sequencing (WGS), today announced a research collaboration designed to demonstrate the clinical value of WGS as a first-line genetic test for postnatal diagnosis of developmental delay disorders.

Key Points: 
  • "We are delighted to bring the experience and expertise of Broad Clinical Labs to this innovative collaboration with Quest.
  • "This type of collaboration between commercial laboratories and research institutions is vital to advance the field of genetic testing and increase utility and economic value."
  • While the ACMG recommends WGS for first-line genetic testing for intellectual disability and developmental delay, some providers continue to follow prior guidelines that recommend chromosomal microarray (CMA) as a first-line test.
  • Broad Clinical Labs is a leader in human whole genome sequencing, having sequenced over 600,000 genomes in service of its mission to accelerate the understanding and diagnosis of human disease.

Harmony Biosciences Reports Fourth Quarter and Full Year 2023 Financial Results and Business Updates

Retrieved on: 
Thursday, February 22, 2024
Acquisition, PDUFA date, Marketing, Total, Research, Narcolepsy, Share repurchase, FDA, Food, Shanda, Treatment, Research and development, Growth, PDUFA, Generator, Track, Fragile X syndrome, Conference, Prader–Willi syndrome, GAAP, Food and Drug Administration, Administration, Patient, Initiate, Development, Benchmarking, Bank statement

Net product revenue for the quarter ended December 31, 2023 was $168.4 million, compared to $128.3 million for the same period in 2022.

Key Points: 
  • Net product revenue for the quarter ended December 31, 2023 was $168.4 million, compared to $128.3 million for the same period in 2022.
  • The average number of patients on WAKIX increased by approximately 350 sequentially to approximately 6,150 for the quarter ended December 31, 2023.
  • Total Operating Expenses in the fourth quarter of 2023 included one-time Zynerba transaction related costs of $9.8 million.
  • ET
    We are hosting our fourth quarter and full year 2023 financial results conference call and webcast today at 8:30 a.m. Eastern Time.

Rgenta Therapeutics to Present at the 19th Annual Huntington's Disease Therapeutics Conference

Retrieved on: 
Wednesday, February 21, 2024
Traffic barrier, MLH1, PMS2, Huntington's disease, GWAS, FXS, Conference, DM1, MSH3, PMS1, RNA, Therapy, FAN1, Gene, FRDA, CSO, Fragile X syndrome, Friedreich's ataxia, DNA, Vaccine

CAMBRIDGE, Mass., Feb. 21, 2024 /PRNewswire/ -- Rgenta Therapeutics ("Rgenta" or the "Company") today announced it will participate at the 19th Annual Huntington's Disease Therapeutics Conference being held February 26-29, 2024, in Palm Springs, California.

Key Points: 
  • CAMBRIDGE, Mass., Feb. 21, 2024 /PRNewswire/ -- Rgenta Therapeutics ("Rgenta" or the "Company") today announced it will participate at the 19th Annual Huntington's Disease Therapeutics Conference being held February 26-29, 2024, in Palm Springs, California.
  • As part of the annual conference, Travis Wager, Ph.D., President & CSO of Rgenta will participate in the Targeting the DNA repair machinery to modulate somatic instability session on Tuesday, February 27, 2024 at 2:00 PM PT.
  • To date, there has been a lack of successful strategies for directly targeting the PMS1 protein with small molecule inhibitors.
  • For more information about the event, please visit the conference website .

Shionogi Strengthens Regulatory Leadership with the Appointment of Dr. Ramón Polo as Senior Vice President, Head of Regulatory Affairs

Retrieved on: 
Monday, February 5, 2024
General Health, Health, Science, Research, Oncology, COVID-19, Senior, Management development, Head, Obesity, University of Navarra, Harvard Business School, Inc., Fragile X syndrome, Doctor of Pharmacy, Janssen Pharmaceuticals, Investment, Infection, Hepatitis C, MBA, Regulatory affairs, Master of Science, Complutense University of Madrid, RSV, Acquisition, Vaccine, University, Johnson & Johnson, Pharmaceutical industry

Shionogi Inc., a U.S. subsidiary of Shionogi & Co., Ltd. (Head Office: Osaka, Japan; President and CEO: Isao Teshirogi, Ph.D.; hereinafter “Shionogi”), announced the appointment of Ramón Polo, MBA, PharmD, Ph.D. as Senior Vice President, Head of Regulatory Affairs.

Key Points: 
  • Shionogi Inc., a U.S. subsidiary of Shionogi & Co., Ltd. (Head Office: Osaka, Japan; President and CEO: Isao Teshirogi, Ph.D.; hereinafter “Shionogi”), announced the appointment of Ramón Polo, MBA, PharmD, Ph.D. as Senior Vice President, Head of Regulatory Affairs.
  • He joins Shionogi Inc. from Johnson & Johnson, where he served as the Vice President, Head of Infectious Diseases, Vaccines & Global Public Health Regulatory Affairs.
  • Prior to this, Dr. Polo led the development strategy of treatments for influenza, RSV and hepatitis C at Janssen Pharmaceutical Companies of Johnson & Johnson.
  • Dr. Polo received his PharmD, Master of Science and Ph.D. in Clinical Biochemistry from the Complutense University of Madrid in Spain.

Orphan designation: 5,5-dimethyl-3-[2-(7-methylspiro[2H-benzofuran-3,1'-cyclopropane]-4-yl)oxypyrimidin-5-yl]imidazolidine-2,4-dione Treatment of fragile X syndrome, 20/03/2023 Positive

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

Key facts

Key Points: 
  • Key facts
    - Active substance
    - 5,5-dimethyl-3-[2-(7-methylspiro[2H-benzofuran-3,1'-cyclopropane]-4-yl)oxypyrimidin-5-yl]imidazolidine-2,4-dione
    - Intended use
    - Treatment of fragile X syndrome
    - Orphan designation status
    - Positive
    - EU designation number
    - EU/3/23/2770
    - Date of designation
    - Sponsor
    Quality Regulatory Clinical Ireland Limited
    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:

Anavex Life Sciences Provides an Update on Rett Syndrome Program

Retrieved on: 
Tuesday, January 2, 2024
DSM-IV codes, Lethargy, Șaeș, AVATAR, Rett syndrome, Caregiver, Microsoft Access, Research, Fragile X syndrome, Marketing, FDA, EMA, Data analysis, Disease, Somnolence, MD, Doctor of Philosophy, Clinical trial, Seizure, Orphan drug, Clinical Global Impression, European Medicines Agency, CHMP, Expanded access, Anxiety, Committee, Safety, Patient, Placebo, Real, RTT, Therapy, OLE, Fast Track, RWE, Pharmaceutical industry

NEW YORK, Jan. 02, 2024 (GLOBE NEWSWIRE) -- Anavex Life Sciences Corp. (“Anavex” or the “Company”) (Nasdaq: AVXL), a clinical-stage biopharmaceutical company developing differentiated therapeutics for the treatment of neurodegenerative and neurodevelopmental disorders today reported topline results from the randomized, double-blind, placebo-controlled, Phase 2/3 EXCELLENCE clinical trial, which evaluated the clinical efficacy, safety, and tolerability of 30 mg ANAVEX®2-73 in 92 pediatric patients with Rett syndrome (RTT) between the ages of 5 through 17 years. Participants were randomized 2:1 (ANAVEX®2-73 [62 patients] to placebo [30 patients]) for 12 weeks, followed by a week 16 safety visit. As well, Anavex reported positive Real World Evidence (RWE) feedback from Rett syndrome patients under Compassionate Use Authorization.

Key Points: 
  • As well, Anavex reported positive Real World Evidence (RWE) feedback from Rett syndrome patients under Compassionate Use Authorization.
  • After 12 weeks, the study showed improvement on the key co-primary endpoint Rett Syndrome Behaviour Questionnaire (RSBQ), which is a detailed 45-item questionnaire for assessing multiple Rett syndrome characteristics by the patients’ caregivers.
  • As of today, some patients with Rett syndrome have been on ANAVEX®2-73-treatment for over 4 years, combined OLE and Compassionate Use Program.
  • In addition to Rett syndrome, Anavex is evaluating ANAVEX®2-73 in other neurodevelopmental disorders, including Fragile X syndrome, and in neurodegenerative disorders like Parkinson’s disease.

CCM Biosciences Announces Launch of 5Prime Sciences Business Unit

Retrieved on: 
Wednesday, December 27, 2023
Research, Genetics, Clinical Trials, Biotechnology, General Health, Pharmaceutical, Health, Science, Oncology, Other Science, RNA, Entrepreneurship, Polymerization, NGS, Princeton University, DNA, Doctor of Philosophy, PCR, DdPCR, CDX, Diagnosis, Spectrum, Big data, Gene, IVD, Bias, Machine learning, Enzyme, CCM, Q5, RNA-Seq, Massive parallel sequencing, Algorithm, Synthetic biology, History, Fragile X syndrome, Vaccine

Diversified biotechnology company CCM Biosciences (CCM Bio) announced the launch of its business unit CCM 5Prime Sciences (5Prime) focused on the development and application of proprietary technology in the domain of DNA biotechnology.

Key Points: 
  • Diversified biotechnology company CCM Biosciences (CCM Bio) announced the launch of its business unit CCM 5Prime Sciences (5Prime) focused on the development and application of proprietary technology in the domain of DNA biotechnology.
  • 5Prime’s technology platform includes multiple patent-protected, globally commercialized compositions and methods for molecular cloning, next-generation DNA sequencing and molecular diagnostics.
  • In the context of molecular diagnostics, NGS is typically applied to diagnose in high-throughput the patterns of DNA mutations in genes.
  • ddPCR is a sensitive method for diagnosing mutations in specific disease-associated genes that is also limited by problems of sequence bias.

Revolutionizing Care: NeuroQure’s Groundbreaking Path to Treating Genetic Intellectual Disabilities

Retrieved on: 
Monday, November 6, 2023
Faculty, FDA, Medical genetics, Prader–Willi syndrome, Friends, Intellectual, UC, Translation, Hope, Intermountain Health, University of California, Irvine, Rett syndrome, Pediatrics, Parameter, American Academy, Executive, DSM-IV codes, ASD, Doctor of Philosophy, Vaccine, Management, MD, Fragile X syndrome, Autism spectrum

Despite this staggering number, there are currently no federally approved treatments targeting the genetic roots of these disorders.

Key Points: 
  • Despite this staggering number, there are currently no federally approved treatments targeting the genetic roots of these disorders.
  • The goal of developing gene therapy to treat intellectual disabilities fuels both Justus and Dr. Gargus.
  • We envision a future where intellectual disabilities are not barriers but challenges we can overcome,” said Justus.
  • “NeuroQure’s mission is not merely scientific advancement; it’s a beacon of hope for individuals and families affected by these conditions.”