Clinical trials: Fragile X - Premutation
Anxiety Disorders, Child Developmental Disorders, Pervasive
Examining Social, Emotional, and Cognitive Functioning in People With Fragile X and Down Syndromes
By testing physiological responses to anxiety in people with nervous system developmental disorders, this study will identify specific physiological characteristics associated with response to anxiety treatments.
- Trial name
- NCT00879515
- Where
- United States
- Volunteers
- 511 people, healthy volunteers welcome
- Sponsor
- University of California, Davis
Fragile X Associated Tremor-ataxia Syndrome, FXTAS
Brain Network Activation and Gait and Posture in FXTAS
In this study the investigators aim to identify and characterize a potential neurophysiological biomarker by mapping functional networks of brain activity (Brain Network Activation, BNA) based on analysis of evoked response…
- Trial name
- FXTAS-BNA (NCT02936531)
- Where
- Israel
- Volunteers
- 150 people
- Sponsor
- Sheba Medical Center
FMR1 Gene Premutation
Assessment of Ovarian Reserve in Patients With Fragile X Premutation
Premature ovarian failure (POF) affects 1% of women under the age of 40 and is defined by the presence of a disorder of the cycle such as spaniomenorrhea or amenorrhea and an increase in FSH > 25 IU/l on two occasions a few weeks…
- Trial name
- ROFRA (NCT07039734)
- Testing
- collection of data from medical records
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Fragile X-Associated Tremor/Ataxia Syndrome, Fragile X Premutation Carriers
Memantine Treatment in Fragile X-Associated Tremor/Ataxia Syndrome
The purpose of this study is to determine if memantine is effective in treating symptoms of Fragile X-associated Tremor Ataxia Syndrome.
- Trial name
- NCT00584948
- Testing
- Memantine
- Where
- 2 sites in United States
- Volunteers
- 94 people, healthy volunteers welcome
- Sponsor
- University of California, Davis
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Fragile X Syndrome, FMR1 Premutation
The Natural History of Reproductive and Overall Health in Girls and Women With a Pre-Mutation in the FMR1 Gene; Creation of a Patient Registry
Background: In human DNA, the Fragile X (FMR1) gene helps to regulate the nervous and reproductive systems. If the gene is abnormal, it can cause different kinds of problems, such as abnormal menstrual periods, decreased…
- Conditions
- Fragile X Syndrome, FMR1 Premutation, Primary Ovairan Insufficiency, Premature Ovarian Failure
- Trial name
- NCT01187524
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Fragile X Premutation
Examining Physiology and Brain Function in People With the Fragile X Premutation
This study will examine whether individuals with the fragile X genetic premutation are likely to have emotional, social, and memory deficits and how the brain may be involved in these deficits.
- Trial name
- NCT00879502
- Where
- United States
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- University of California, Davis
Fragile X Associated Tremor/Ataxia Syndrome (Fxtas) (Diagnosis)
Open-Label Trial of Sulforaphane in Premutation Carriers With FXTAS
FXTAS is a rare genetic progressive neurodegenerative disorder, linked to a trinucleotide repeat expansion in the FMR1 gene. FXTAS is characterized by tremor and ataxia in addition to atrophy and white matter disease in the…
- Trial name
- NCT05233579
- Testing
- Sulforaphane
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- University of California, Davis
Fragile X Syndrome
Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
The purpose of this research is to determine if saliva samples can be used as an alternate sample type to test for fragile X. By using saliva instead of blood, it would be easier for patients to have fragile X testing.
- Trial name
- NCT01616589
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Esoterix Genetic Laboratories, LLC