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.
Rush University Medical Group
Elizabeth Berry-Kravis is a Pediatric Neurologist and a Pediatrics provider in Chicago, Illinois. Dr. Berry-Kravis is rated as an Elite provider by MediFind in the treatment of Fragile X Syndrome. Her top areas of expertise are Fragile X Syndrome, Niemann-Pick Disease, Autism Spectrum Disorder, and Rett Syndrome. Dr. Berry-Kravis is currently accepting new patients.
Regents Of The University Of Michigan
Peter Todd is a Neurologist in Ann Arbor, Michigan. Dr. Todd is rated as an Elite provider by MediFind in the treatment of Fragile X Syndrome. His top areas of expertise are Fragile X Syndrome, Fragile XE Syndrome, Hereditary Ataxia, and Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease). Dr. Todd is currently accepting new patients.
Maija Castren practices in Helsinki, Finland. Ms. Castren is rated as an Elite expert by MediFind in the treatment of Fragile X Syndrome. Her top areas of expertise are Fragile X Syndrome, Autism Spectrum Disorder, Cardiac Arrest, and Seizures.
Summary: This study is a multicenter, double-blind, randomized, placebo-controlled study to assess the safety and tolerability of 3 doses of MRM-3379 in male participants with Fragile X Syndrome ages 16 to 45 (inclusive). In addition, a parallel cohort of participants ages 13 to \<16 will receive open-label MRM-3379. All participants will participate for 12 weeks of treatment. The study is also intended as...
Summary: The goal of this study is to characterize biophysiolgoical signals as a comprehensive profile of the nervous systems in order to understand interactions between the brain and body, while an individual performs naturalistic behaviors (ex. walking, pointing) and while breathing at a slow controlled pace. The investigators aim to study these interactions among a variety of populations, from healthy i...
Published Date: April 01, 2020
Published By: National Institutes of Health