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Riluzole in Fragile X Syndrome

2014-07-23 21:14:34 | BioPortfolio

Summary

The purpose of this study is to investigate the effectiveness and tolerability of riluzole in adults with Fragile X Syndrome.

Description

Fragile X Syndrome (FXS) represents the most common inherited form of intellectual disability. FXS is more common in males and the symptoms associated with the disorder are more marked in males. FXS is associated with characteristic physical features, behaviors, and comorbidities. Those with FXS often suffer from behavioral difficulties that include anxiety-related symptoms (shyness, social phobia, obsessive-compulsive disorder (OCD) symptoms), attention deficit hyperactivity symptoms (overarousal, hyperactivity, distractibility, impulsivity) and aggressive/self-injurious behaviors.

Riluzole is approved by the FDA for use in treating amyotrophic lateral sclerosis (ALS) in adults. Recently, riluzole has been the subject of several open-label studies describing the use of the drug in treatment-resistant depression and OCD.

Given the overlap between repetitive behavior in FXS and symptoms of OCD, it is logical to study riluzole in FXS given the compound's promise in ameliorating treatment-refractory symptoms of OCD.

Study Design

Allocation: Non-Randomized, Endpoint Classification: Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Conditions

Fragile X Syndrome

Intervention

Riluzole

Location

Christian Sarkine Autism Clinic
Indianapolis
Indiana
United States
46202

Status

Recruiting

Source

Indiana University

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-07-23T21:14:34-0400

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PubMed Articles [4728 Associated PubMed Articles listed on BioPortfolio]

Microglial cell activation and senescence are characteristic of the pathology FXTAS.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with premutation alleles of the FMR1 gene. Expansions of more than 200 CGG repeats give rise t...

FRAGILE X SYNDROME AND CONNECTIVE TISSUE CONNECTIVE TISSUE DEFICITS IN FRAGILE X SYNDROME.

Fragile X Syndrome is the most common cause of inherited intellectual disabilities and autism spectrum disorders and it is an X-linked disorder in which there is a deficiency of the Fragile X Mental R...

Cognitive function impacts gait, functional mobility and falls in fragile X-associated tremor/ataxia syndrome.

Executive function and information processing speed deficits occur in fragile X premutation carriers (PMC) with and without fragile X-associated tremor/ataxia syndrome (FXTAS). Gait is negatively impa...

Biobehavioral composite of social aspects of anxiety in young adults with fragile X syndrome contrasted to autism spectrum disorder.

Social anxiety is a common disorder that has negative impacts across multiple domains of function. Several clinical groups are at elevated risk for social anxiety, including those with fragile X syndr...

Expressed emotion and impulsiveness in mothers of children with Fragile X Syndrome and Down Syndrome: The relation to behavioral problems in their offspring.

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Medical and Biotech [MESH] Definitions

Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)

A RNA-binding protein that is found predominately in the CYTOPLASM. It helps regulate GENETIC TRANSLATION in NEURONS and is absent or under-expressed in FRAGILE X SYNDROME.

An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.

A glutamate antagonist (RECEPTORS, GLUTAMATE) used as an anticonvulsant (ANTICONVULSANTS) and to prolong the survival of patients with AMYOTROPHIC LATERAL SCLEROSIS.

A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. MENTAL RETARDATION occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)

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