View clinical trials related to Fragile X Syndrome.
Filter by:This is a randomized, double-blind, placebo-controlled, multiple-center study, to assess the efficacy and safety of Cannabidiol administered as ZYN002 for the treatment of children, adolescent, and young adult patients with Fragile X Syndrome (FXS). Eligible participants will participate in up to an 18-week treatment period, where all participants will receive placebo or active study drug. Patients ages 3 to < 23 years will be eligible to participate.
The purpose of this study is to accumulate and quantitatively analyze data on the microbiome, serotonin signaling and genetics, and inflammatory cytokines from patients with Autism Spectrum Disorder and Fragile X Syndrome. Computational analysis of multi-dimensional datasets will be used to establish a "Diagnostic and Therapeutic Index" - an objective set of tools that can help differentiate subtypes of Autism Spectrum Disorder and develop more accurate methods of diagnosis and response to treatment.
Fragile X Syndrome (FXS) and Williams-Beuren Syndrome (WBS) are relatively rare disorders characterized by developmental delay associated to socio-communicative deficit and autistic-like behaviours. WBS has been considered for a long time as the "polar opposite" of ASD, given their hypersociable phenotype. Nonetheless, recent researches have emphasized similarities between ASD and WBS phenotypes. By following some authors "social abnormalities in ASD and WS can be characterized in terms of analogous difficulties in social cognition), and distinct patterns of social motivation which appears to be reduced in ASD and enhanced in WBS". More than opposite condition, these authors suggests that WBS and ASD could share the same difficult in comprehension of social relationship, with opposite pattern of social engagement (enhanced in WBS and weakened ASD). Given, these similarities authors suggest testing the feasibility and validity of therapy for ASD in children with WBS. Parent Mediated Therapy (PMT) is a group of "technique-focused interventions where the parent is the agent of change and the child is the direct beneficiary of treatment". PMT demonstrated evidence of effectiveness in socio-communicational improvement for children with ASD in a randomized controlled trial (RCT). Some recent researchers have extended the use of PMT to children with genetic disorders and autistic features, such as FXS. While showing encouraging results, the samples of research were limited. They main aim of this research is to to verify effectiveness of Cooperative PMT (CMPT) for socio-communicative deficit in children with FXS and WBS. Our hypothesis is that CPMT, in addition to conventional rehabilitation therapies (mainly speech therapy and occupational therapies), could contribute to the enhancement of socio-communicative skills and the reduction of behavioural problems. We also expected also an improvement in family quality of life and a reduction of parental stress.
The purpose of this trial is to investigate the use of metformin in the treatment of Fragile X syndrome (FXS) patients. Metformin is an FDA approved compound with an established safety profile and minimal side effects that specifically targets and normalizes multiple aspects of the pathophysiology in FXS. This is a randomized double-blind placebo-controlled 2-arm parallel group design study of the drug metformin and placebo in FXS subjects with a primary outcome measure of safety/tolerability and secondary outcome measures on cognition, attention, anxiety, sleep, and physiologic and biochemical biomarkers.
This study seeks to correlate microbiome sequencing data with information provided by patients and their medical records regarding autism.
This study is a controlled trial of metformin in individuals with fragile X syndrome between the ages of 6 and 35 years. Participants will be randomized in a double-blind design to either drug or placebo and will attend three visits to the study site in a 4-month period for a series of tests. The primary objectives are to assess safety, tolerability, and efficacy of metformin in the treatment of language deficits, behavior problems, and obesity/excessive appetite in individuals with fragile X syndrome.
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 potential (ERP) signals in both asymptomatic FMR1 premutation carriers and in patients with various stages of FXTAS. Additionally correlations will be studied between these BNA scores and demographics (gender, age and disease duration) as well as genetic mutation and clinical scores.
Background: Some patients with unusual genetic conditions are referred to the National Institutes of Health (NIH). They may not be eligible to join current research studies. Testing such patients is a good way to improve the skills of research staff. The findings could lead to new processes and research. Objectives: To recruit a diverse group of pediatric subjects with genetic disorders. To give clinic staff hands-on experience working with these patients. Eligibility: Children any age with a known or suspected genetic disorder. Design: Participants will be screened with medical history and physical exam. They may have lab and other tests. Family members may give DNA samples. Participants will have: Medical history Physical exam Height, weight, and other measurements taken. A clinical evaluation of their disorder. They may have: Blood, urine, and saliva samples taken Imaging tests. These may include x-rays, scans, ultrasound, or skeletal survey. A sleep study A visit with other specialists at NIH A genetic test from a commercial lab Medical photographs taken Other tests Participants may have follow-up visits. They may get medical or surgical treatment.
The purpose of this study is to investigate the Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors