Learn About Fragile X Syndrome

What is the definition of 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.

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What are the causes of Fragile X Syndrome?

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.

How prevalent is Fragile X Syndrome?

Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.

Is Fragile X Syndrome an inherited disorder?

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.

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What are the latest Fragile X Syndrome Clinical Trials?
An Open-Label Extension Study of BPN14770 in Subjects With Fragile X Syndrome

Summary: This is an open-label extension (OLE) study for subjects completing one of two double-blind clinical trials with BPN14770, Study BPN14770-CNS-301(in adult males) and Study BPN14770-CNS-204 (in adolescent males).

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An Open-Label Extension Study to Assess the Long-Term Safety and Tolerability of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With Fragile X Syndrome - CONNECT-FX Open Label Extension (OLE)

Summary: ZYN002 is a pharmaceutically manufactured Cannabidiol that is developed as a clear gel that can be applied to the skin (called transdermal delivery). The gel will be applied to clean, dry, intact skin of the shoulders and/or upper arms. Participants from the ZYN2-CL-016 and ZYN2-CL-033 studies who meet the inclusion criteria and none of the exclusion criteria for study ZYN2-CL-017 are eligible. Pa...

Who are the sources who wrote this article ?

Published Date: April 01, 2020Published By: National Institutes of Health

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