Clinical trials: Fragile X Syndrome
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
Effect of CBD on the Brain
This proposal focuses on the therapeutic relevance of the endocannabinoid (eCB) system for the treatment of Fragile-X syndrome (FXS), the primary hereditary cause of autism spectrum disorder (ASD).
- Trial name
- NCT06261450
- Testing
- CBD Oral Solution (eCBD system Target)
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Université de Sherbrooke
Fragile X Syndrome
Clinical Study to Assess the Pharmacokinetics, Safety and Tolerability of Single and Multiple Oral Doses of AFQ056 in Children With Fragile X Syndrome (FXS)
The aim of this study is to characterize the pharmacokinetics and safety/tolerability of AFQ056 in children with Fragile X Syndrome(FXS)
- Trial name
- NCT01482143
- Testing
- AFQ056
- Where
- 4 sites in United States, Spain
- Volunteers
- 21 people
- Sponsor
- Novartis Pharmaceuticals
Fragile X Syndrome
Randomized Controlled Study of Donepezil in Fragile X Syndrome
Fragile X syndrome (FraX) is the most common known heritable cause of human intellectual disability. Though recent research has revealed much about the genetic and neurobiological bases of FraX, knowledge about specific and…
- Trial name
- NCT01120626
- Testing
- donepezil, sugar pill
- Where
- United States
- Volunteers
- 45 people
- Sponsor
- Stanford University
Fragile X Syndrome
Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X Syndrome
The Fragile X syndrome (FXS) was first described by Dr. Martin and Dr. Bell in 1943, in families with several patients affected by sex-linked mental disability.
- Trial name
- SXF-TRA152 (NCT01329770)
- Testing
- Ascorbic Acid (Vitamin C) and Alpha-tocopherol (Vitamin E)
- Where
- Spain
- Volunteers
- 30 people
- Sponsor
- Yolanda de Diego Otero
Fragile X Syndrome
Optical Imaging as a Tool for Monitoring Brain Function in Fragile X Syndrome
The objective of this project is to explore the potential of functional near- infrared spectroscopy (fNIRS) as innovative functional biomarker for clinical trial readiness in Fragile X Syndrome (FXS) that is still without cure.
- Trial name
- NCT06293027
- Where
- Italy
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- IRCCS Fondazione Stella Maris
Angelman Syndrome, Smith-Magenis Syndrome
Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and/or Overweight, and/or Obesity
A significantly higher proportion of patients with rare diseases (RD) with intellectual disability (ID), present hyperphagia, overweight or obesity, compared to the general population.
- Conditions
- Angelman Syndrome, Smith-Magenis Syndrome, X Fragile Syndrome, Epilepsy
- Trial name
- HOGRID (NCT04768803)
- Testing
- acylated and unacylated ghrelin dosages
- Where
- 2 sites in France
- Volunteers
- 300 people
- Sponsor
- University Hospital, Toulouse
Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD)
Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders
This observational study evaluates functional and developmental outcomes in pediatric participants undergoing a two week intensive multimodal neurorehabilitation program.
- Conditions
- Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD), Neurodevelopmental Disorders and Developmental Abnormalities, Developmental Delay (Disorder)
- Trial name
- GEN-HOPE (NCT07493096)
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Healing Hope International
Fragile X Syndrome (FXS)
A Study of OV101 in Individuals With Fragile X Syndrome
The purpose of this study is to assess the safety, tolerability and efficacy of oral OV101 (gaboxadol) in subjects with Fragile X syndrome.
- Trial name
- ROCKET (NCT03697161)
- Testing
- OV101 (gaboxadol)
- Where
- 6 sites in United States
- Volunteers
- 36 people
- Sponsor
- Ovid Therapeutics Inc.
Fragile X Syndrome
Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome
Fragile X Syndrome (FXS) is the most common known inherited form of mental impairment, developmental disability and autism. Minocycline is an antibiotic that has recently been used to treat the mouse model for Fragile X, and was…
- Trial name
- NCT00858689
- Testing
- Minocycline
- Where
- Canada
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- FRAXA Research Foundation
Fragile X Syndrome, Disruptive Behavior
Treatment of Disruptive Behaviors in Fragile X Syndrome
Disruptive behaviors such as self-injury, aggression, and property destruction pose significant health-related issues to children diagnosed with fragile X syndrome (FXS), impacting the child's quality of life and causing…
- Trial name
- NCT03510156
- Testing
- Behavior analytic treatment
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Stanford University
Fragile X Syndrome
Metformin in Children and Adults With Fragile X Syndrome
Fragile X Syndrome (FXS) is caused by loss of FMR1 expression on the X chromosome that leads to increased mRNA translation, which results in hyperactivation of ERK (extracellular signal-regulated kinase) and mTORC1 (mechanistic…
- Trial name
- NCT03722290
- Testing
- Metformin
- Where
- Canada
- Volunteers
- 15 people
- Sponsor
- Université de Sherbrooke
Genetic Disorder, Asperger Disorder
Pediatric Patients With Metabolic or Other Genetic Disorders
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.
- Conditions
- Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome
- Trial name
- NCT02769949
- Where
- United States
- Volunteers
- 96 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Fragile X Syndrome
An Open-Label Trial of Donepezil in Fragile X Syndrome
Fragile X syndrome is the most common known inherited cause of neurodevelopmental disability. Functional magnetic resonance imaging (fMRI) studies from our laboratory indicate that specific brain regions using the neurochemical…
- Trial name
- NCT00220584
- Testing
- donepezil
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Stanford University
Fragile X Syndrome
Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome
This Phase IIb study is designed to assess whether 3 doses of AFQ056 are safe and effective in treating the behavioral symptoms of Fragile X Syndrome.
- Trial name
- NCT01357239
- Testing
- AFQ056
- Where
- 38 sites in United States, Australia and 14 more
- Volunteers
- 139 people
- Sponsor
- Novartis Pharmaceuticals
Fragile X Syndrome, Metformin
Metformin in Children With Fragile X Syndrome
This study is a controlled trial of metformin in children with fragile X syndrome(FXS). The age of FXS children range from 2 to 16 years old.
- Trial name
- NCT05120505
- Testing
- Metformin
- Where
- China
- Volunteers
- 37 people
- Sponsor
- Children's Hospital of Fudan University
Fragile X Syndrome (FXS)
Decisional Capacity and Informed Consent in Fragile X Syndrome
The Decisional Capacity and Informed Consent in Fragile X Syndrome (FXS) project is for the Eunice Kennedy Shriver National Institute of Child Health \& Human Development, 1R01HD071987-01A1, and will provide the first…
- Trial name
- NCT02465931
- Testing
- Paper and Pencil Informed Consent, Digital Informed Consent Tool
- Where
- United States
- Volunteers
- 152 people
- Sponsor
- RTI International
Fragile X Syndrome
Double-blind Placebo Controlled Study of Oxytocin in Fragile X Syndrome
The purpose of this study is to determine whether the medication oxytocin is an effective and tolerable treatment in adolescent males with fragile X syndrome (FraX) for improving socially appropriate behaviors and reducing social…
- Trial name
- NCT01254045
- Testing
- oxytocin 24IU, oxytocin 48IU
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Stanford University
Fragile X Syndrome
A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X Syndrome
This study is a multisite, randomized, double-blind, placebo-controlled, phase 2 study of MG01CI (low dose and high dose once daily) for 6 weeks compared with placebo in a 1:1 ratio of 60 adolescent and adult subjects with…
- Trial name
- NCT02126995
- Testing
- MG01CI extended-release tablet
- Where
- 12 sites in United States, Israel
- Volunteers
- 62 people
- Sponsor
- Alcobra Ltd.
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International