Fragile X Syndrome Overview
Learn About Fragile X Syndrome
Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.
Mutations in the FMR1 gene cause fragile X syndrome. The FMR1 gene provides instructions for making a protein called FMRP. This protein helps regulate the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells. Synapses are critical for relaying nerve impulses.
Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.
Fragile X syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. X-linked dominant means that in females (who have two X chromosomes), a mutation in one of the two copies of a gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of a gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females.
University Of Penn - Medical Group
Andrea Schneider is a Neurologist in Philadelphia, Pennsylvania. Dr. Schneider and is rated as a Distinguished provider by MediFind in the treatment of Fragile X Syndrome. Her top areas of expertise are Fragile X Syndrome, Drug Induced Dyskinesia, Autism Spectrum Disorder, and Mosaicism.
Christiana Care Health Services Inc
Tracey Petrides is a Family Medicine provider in Wilmington, Delaware. Dr. Petrides and is rated as an Experienced provider by MediFind in the treatment of Fragile X Syndrome. Her top areas of expertise are Moebius Syndrome, Down Syndrome, Cerebral Palsy, and Autism Spectrum Disorder. Dr. Petrides is currently accepting new patients.
Tomi Mccann is an Internal Medicine provider in Glen Mills, Pennsylvania. Dr. Mccann and is rated as an Experienced provider by MediFind in the treatment of Fragile X Syndrome. Her top areas of expertise are High Cholesterol, Cirrhosis, Xanthoma, and Familial Combined Hyperlipidemia.
Summary: Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer's Disease (AD)/age-related dementias (ARD). Participants: Participants include 120 adults with ID, their caregivers, and their coaches (up to 360 individual participants, grouped as triads), recr...
Summary: The purpose of this First-in-Human Phase I study is to investigate the safety, tolerability and pharmacokinetics of CTH120 in adult healthy volunteers.
Published Date: April 01, 2020
Published By: National Institutes of Health