Clinical Trials for Fragile X Syndrome

Source: ClinicalTrials.gov — U.S. National Library of Medicine — A database of privately and publicly funded clinical studies conducted around the world (U.S. National Library of Medicine, public domain).

This page lists clinical trials related to Fragile X Syndrome from the ClinicalTrials.gov database.

Trial Summary

• Total studies: 50
• Recruiting: 16
• Active, not recruiting: 4
• Completed: 18
• Other: 12

Results are refreshed periodically and may not reflect the most current information available from ClinicalTrials.gov.

Recruiting Trials

NCT00768820 — The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome

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

NCT01793168 — Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups,…

NCT05120505 — 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. Participants will be randomized in a double-blind design to either drug or placebo for 6-month period. The primary objectives are to assess metformin in treatment of behavior problems, cognitive and language with fragile X syndrome.

NCT06677866 — Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder

Fragile X Syndrome (FXS) is a rare genetic syndrome, caused by a mutation in the FMR1 gene located on the X chromosome. It is considered the leading hereditary cause of intellectual disability (ID) and the primary cause of Autism Spectrum Disorder (ASD) due to a single gene-mutation. Many individuals with FXS exhibit symptoms overlapping with those of ASD, including difficulties in social-commu…

NCT05957549 — Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG-Preschool Age

Individuals with Fragile X Syndrome show differences in how they understand and learn language from infancy. They frequently have lifelong delays in speech and language as well. In addition, they experience other auditory symptoms, including being very sensitive to certain sounds as well as being more sensitive than others to loud sounds. The underlying brain activity for sound perception and s…

NCT06560242 — Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG- Infant

Individuals with Fragile X Syndrome show differences in how they understand and learn language from infancy. They frequently have lifelong delays in speech and language as well. In addition, they experience other auditory symptoms, including being very sensitive to certain sounds as well as being more sensitive than others to loud sounds. The underlying brain activity for sound perception and s…

NCT06227780 — Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders

Fragile X Syndrome (FXS) is a complex neurodevelopmental disorder caused by a mutation on the X chromosome. Scientists have investigated FXS extensively in both humans and animals. Thus far, phenotypic rescue in animal models has not resulted in treatment breakthroughs in humans, though some important discoveries have been made. Research has shown that individuals with FXS process sounds differ…

NCT06139172 — Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)

The purpose of this study is to evaluate the effectiveness of an adapted, telehealth functional behavioral therapy (FBTsIDD) specifically focused on promoting appropriate communication and behavioral strategies in individuals with syndromic intellectual and developmental disorders.

Participants will be asked to complete virtual study assessments at intake and then on a monthly basis for the du…

NCT06088589 — Speech-in-noise Perception in Autism and Fragile X

The goal of this study is to identify which brain regions are active during speech-in-noise perception, as well as how those regions interact. The investigators are studying brain activation during speech-in-noise in autism and controls as well as individuals with Fragile X Syndrome. The main question[s] it aims to answer are: 1) How does the brain’s response to background noise affect a pers…

NCT06081348 — Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders

There are currently no approved medications for the treatment of anxiety in children and youth with neurodevelopmental disorders (NDDs), both common and rare. Sertraline, a selective serotonin reuptake inhibitor, has extensive evidence to support its use in children’s and youth with anxiety but not within NDDs. More research is needed to confirm whether or not sertraline could help improve anxi…

NCT06147414 — Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe a…

NCT06740162 — Physical Activity and Community EmPOWERment Project

Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer’s Disease (AD)/age-related dementias (ARD).

Participants: Participants include 120 adults with ID, their caregivers, and their coaches (up to 360 individual participants, grouped as triads), …

NCT07209462 — Study of MRM-3379 in Male Participants With Fragile X Syndrome (BLOOM)

This study is a multicenter, double-blind, randomized, placebo-controlled study to assess the safety and tolerability of 3 doses of MRM-3379 in male participants with Fragile X Syndrome ages 16 to 45 (inclusive). In addition, a parallel cohort of participants ages 13 to <16 will receive open-label MRM-3379. All participants will participate for 12 weeks of treatment. The study is also intended…

NCT07493096 — 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. The program is designed for children with neurodevelopmental disorders, including but not limited to cerebral palsy, autism spectrum disorder, developmental delay, hypoxic ischemic encephalopathy (HIE), and chromosomal or gene…

NCT06868979 — Optical Imaging in X-linked Disorders.

Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability. FXS and CTD affect hemizygous males and with highly variable severity heterozygous females. Both these neurodevelopmental disorders (NDDs) have a dramatic impact on the family quality of life and the health-care system. These disorders sha…

NCT07654114 — Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome

The purpose of this Phase IIa study is to evaluate the safety, tolerability, and effectiveness of CTH120 in adult males with Fragile X syndrome.

Active, Not Recruiting

NCT03655223 — 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 families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health condi…

NCT03802799 — Open Label Extension to Assess the Long-Term Safety and Tolerability of ZYN002 in Children and Adolescents With FXS

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 eligibl…

NCT05418049 — Evaluating the Neurophysiologic and Clinical Effects of Single Dose Drug Challenge

The aim of this study is to utilize neurophysiologic assessments, behavioral measures and clinical measures to assess how much deficits associated with Fragile X Syndrome from pre-dose to post-dose using pharmacology.

NCT05367960 — An Open-Label Extension Study of BPN14770 in Subjects With Fragile X Syndrome

This is a 4-year, 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).

Not Yet Recruiting

NCT06261450 — 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). Although most individuals with FXS have moderate to severe intellectual disability (ID), caregivers are mainly concerned about aggressive behavior and anxiety problems, hallmark features of the condi…

NCT06261502 — Effect of CANnabidiol on Anxiety and GABAergic Function in Individuals with Fragile-X Syndrome

This study 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). Most individuals with FXS have moderate to severe intellectual disability (ID), and caregivers are mainly concerned about aggressive behavior and anxiety problems. Since FXS individuals have a normal li…

NCT07434037 — The Neurocognitive Bases of Trust in Intellectual Disability

This project studies the neurocognitive basis of trust adjustment in intellectual disability (ID), a source of significant vulnerability for these patients, focusing on two target populations chosen for their specific social characteristics: people with Down syndrome, who are often described as being hypersocial, and people with Fragile X syndrome, who are often characterized by a completely op…

NCT07328529 — Inhibition of Aggressive Behavior in Participants With Fragile X Syndrome

The goal of this clinical trial is to learn if drug SRX246 works to treat irritability, agitation, aggression and self-injury (IAAS) behaviors in adult males with Fragile X Syndrome (FXS). It will also learn about the safety of drug SRX246. The main questions it aims to answer are:

• Does drug SRX246 lower the number of times participants experience IAAS behaviors?
• What medical problems do p…

NCT07439510 — A Study to Investigate the Effects and Safety of SPG601 for the Treatment of Fragile X Syndrome in Male Participants

This Phase 2b/3, randomized, double-blind, placebo-controlled, 2-part study will evaluate the efficacy, safety and tolerability of different dose regimens of SPG601 in adult male participants with Fragile X syndrome.

Enrolling by Invitation

NCT03836300 — 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 intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to improve outcomes f…

NCT05301361 — Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities

This study is a randomized, double-blind, placebo-controlled, crossover trial of extended-release liquid methylphenidate (XRMPH) to evaluate the sensitivity of the NIH Toolbox Cognition Battery (NIHTB-CB) to changes in cognition in children and adolescents ages 6 to 17 with intellectual disability (D) and comorbid Attention Deficit Hyperactivity Disorder (ADHD). The sample will include 68 males…

Completed Trials

NCT00362843 — Protein Synthesis in the Brain of Patients With Fragile X Syndrome

Biosynthesis of proteins is essential for growth and continued maintenance of the entire neuron including axons, dendrites, and synaptic terminals, and it is clearly one of the important biochemical processes underlying adaptive changes in the nervous system. Studies in experimental animals with the quantitative autoradiographic L [1 (14)C]leucine method have demonstrated a number of the phys…

NCT02616796 — Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome

The purpose of the study is to evaluate a 2-3 day treatment probe targeted to improving social gaze behavior in children with fragile X syndrome (FXS). The investigators will use the principles of Applied Behavior Analysis (ABA) to shape appropriate social skills. Importantly, the investigators propose to examine the effects of this treatment probe on brain and behavior.

NCT02719951 — Glutaminergic Transmission in Autism : Molecular Imaging Exploration

Glutamatergic transmission exploration using PET (Positron Emission Tomography) imaging in autism compared to Fragile-X Syndrome ( FXS) and Healthy Volunteers

NCT02769949 — 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. 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 g…

NCT03087526 — NIPD on CFTC for Triplet Repeat Diseases

The purpose of this study is to develop and validate an analytical and clinical NIPD test for triplet repeat diseases by isolated circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation in families at risk of having one of the following triplet repeat diseases: Huntington’s disease, Steinert Myotonic dystrophy, Fragile X syndrome, spinocere…

NCT02920892 — AFQ056 for Language Learning in Children With FXS

The purpose of this clinical trial is to investigate the impact of AFQ056 on language learning in 3-6 year old children with Fragile X Syndrome (FXS).

NCT03479476 — A Trial of Metformin in Individuals With Fragile X Syndrome

This study is a controlled trial of metformin in individuals with fragile X syndrome between the ages of 6 and 25 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 o…

NCT03569631 — A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome

This is a single-center, randomized, double-blind, 2-period crossover study to explore the effects of BPN14770 on cognitive function and behavior in subjects with Fragile X Syndrome. Subjects will receive both active treatment with BPN14770 capsules and matching placebo capsules in the course of the study. One treatment will be administered during each of the 12-week study periods.

NCT03697161 — 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.

NCT03862950 — A Trial of Metformin in Individuals With Fragile X Syndrome (Met)

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 o…

NCT04977986 — Clinical Study of Cannabidiol in Children, Adolescents, and Young Adults With Fragile X Syndrome

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. Pati…

NCT05030129 — ERG/5-HTP in Fragile X Syndrome (FXS)

The purpose of this study is to assess the safety, tolerability and efficacy of Ergoloid mesylates (EM) and 5-hydroxytryptophan (5-HTP) and the combination (EM + 5-HTP) compared to placebo in males aged 18-45 years old with Fragile X Syndrome.

NCT05163808 — A Randomized Study of BPN14770 in Male Adolescents (Aged 9 to < 18 Years) With Fragile X Syndrome

This is a 2-part study, with each part having a unique set of objectives for male adolescents aged 9 to < 18 years with fragile X syndrome (FXS). Part 1 is an open-label, single-dose, pharmacokinetics (PK) assessment of BPN14770 25 mg and 50 mg, while Part 2 is double-blind (DB) and randomized between two treatment groups (Study Drug and Placebo).

NCT05358886 — A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome

A Randomized, Double-blind, Placebo-controlled, Parallel Group Study of BPN14770 in Male Adults (Aged 18 to 45) with Fragile X Syndrome

NCT06480968 — CTH120 First-in-Human Study: Single and Multiple Ascending Doses and Potential Food Interaction

The purpose of this First-in-Human Phase I study is to investigate the safety, tolerability and pharmacokinetics of CTH120 in adult healthy volunteers.

NCT06334419 — Placebo-Controlled, Single-Dose Challenge Study of Gaboxadol in Adult Males With Fragile X Syndrome (FXS)

This is a single dose, placebo-controlled study. Male subjects aged 18 to 40 years (inclusive) with a diagnosis of FXS. Eligible subjects may enroll in this study comprised of two in home and two in clinic visits each 14 days apart, for a total of four visits. Subjects will be given single dose gaboxadol (10 mg) or matched placebo at each of these visits to take orally. Thus, all enrolled subje…

NCT06413537 — Study of SPG601 in Adult Men With Fragile X Syndrome

This Phase 2 study described herein will evaluate the safety, efficacy, tolerability, pharmacokinetics and pharmacodynamics of SPG601 in adult men with Fragile X syndrome.

NCT06957054 — Neural Biomarkers in Fragile X Syndrome

The purpose of this non-interventional test /re-test study is to assess neural biomarkers in adult subjects with Fragile X syndrome compared to those measured in a population of typically developing adults

Other (Withdrawn)

NCT04100863 — A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Autism

This study seeks to correlate microbiome sequencing data with information provided by patients and their medical records regarding autism.

Other (Unknown)

NCT04768803 — 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. Prader-Willi syndrome is the only genetic obesity identified to date associated with hyperghrelinemia, while ghrelin levels are lower than in controls in other situations of obesity.

The aim of the study is to f…

Other (Suspended)

NCT05832255 — An Investigation of Psilocybin on Behavioural and Cognitive Symptoms of Adults With Fragile X Syndrome

Diverse symptomatology makes Fragile X Syndrome (FXS) difficult to treat, and currently there are no approved prevention or treatment methods for FXS. Current therapies, including pharmaceutical and behavioural interventions, offer a patchwork of solutions that have limited efficacy and high toxicity. The current study aims to examine psilocybin as a safe treatment alternative with the ability …

NCT06293027 — 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. The limited availability of objective and quantitative biomarkers to monitor brain function poses challenges to advancing therapeutic research. With clinical trials on t…

NCT06279858 — Probiotic Intervention for Microbiome Modifications and Clinical Improvements in Fragile X Syndrome

The primary objective of this clinical trial is to evaluate efficacy of probiotic mixture which contains Lactobacillus casei, Lactobacillus salivarius and Bifidobacterium breve, in children with Fragile X aged 3-18 years. Specifically, links between microbiome modifications by probiotic mixture and behavioral manifestations and brain processing (eye tracker, EEG analysis) will be assessed. Expl…