Active clinical trials for "Fragile X Syndrome"

The study objective is to explore the efficacy, safety and tolerability of STX209 for treatment of irritability in subjects with FSX. We hypothesize that STX209 will improve irritability and other typical problem behaviors associated with fragile X syndrome. We also hypothesize that STX209 will be safe and well tolerated.

The purpose of the study is to test the efficacy of a 20 week multi-modal treatment comprised of lovastatin or placebo, and the Parent-implemented Language Intervention (PILI) in children with fragile X syndrome (FXS). Children will be randomized to drug or placebo in a double-blind design with all participating in the PILI. The primary endpoint will be to measure improvements in spoken language and behavior among lovastatin-treated than placebo treated participants.

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 Fragile X Syndrome (FXS). Following Screening, subjects will be randomized to MG01CI or matching placebo at Baseline (Day 0) and the 6 week Double-blind Treatment Period will begin on Day 1. The first 4 weeks of the treatment period will be a dose-optimization period, All subjects will start with two daily tablets: low dose metadoxine or matching blinded placebo. At weekly visits/phone assessments, the investigator will evaluate the dose based upon the investigator's assessment of safety and tolerability. If the subject demonstrates safety or tolerability concerns with the low dose after 1 or 2 weeks of treatment, then the subject will be discontinued. If there are no concerns about safety and tolerability after 2 weeks of treatment, then the dose will be increased to high dose or placebo. If at the high dose there are concerns about safety and tolerability, then the dose will be either kept the same or reduced to low dose for the remainder of the treatment period. There will be a 2-week Follow-up Period after the last dose of study treatment or early termination.

Fragile X syndrome (FXS) presents alterations in synaptic plasticity that produce intellectual disability. can produce improvement. Estrogens (targeting Estrogen Receptors beta (ER-β) can act as neuroprotective agents, promoting synaptic plasticity and neurite outgrowth, and health benefits derived from flavonoids, as the flavonol epigallocatechin gallate (EGCG), phytoestrogens of natural origin are partially explained by their interaction with membrane ER. Selective ER-β flavonoids are thus good candidates for their therapeutic evaluation in intellectual disabilities. EGCG also targets central intracellular transduction signals altered in FXS and improves memory recognition in a FXS animal model(adenosine triphosphate (ATP)-inhibitor of phosphatidylinositol 3-kinase (PI3K)and mammalian target of rapamycin (mTOR) and extracellular signal-regulated kinase (ERK1/2). This study targets the synaptic plasticity alterations that underlie the learning and memory impairment but also the computational disability in FXS. The hypothesis is that EGCG can act by favoring the physiological processes involved in cognition.

The purprose of this study is to develop and validate an analytical NIPD test for triplet repeat disesases by NGS 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, Myotonic dystrophy, Fragile X syndrome.. A comparison of two 3rd generation long fragment DNA sequencing techniques will be performed. These methods are based of the phasing techniques of parental haplotypes without the proband.

The investigators wish to compare the brain distribution of GABA(A) receptors and GABA levels in young adult males with Fragile X Syndrome compared to idiopathic intellectual developmental disorder. The radiopharmaceutical [18F]flumazenil has been used to study GABA(A) receptor distribution in other genetic syndromes with autistic features; however, despite overwhelming evidence supporting the importance of the GABAergic system in FXS, no clinical investigation of this system in human FXS has been reported in the literature. Therefore, this study will provide the first in vivo comprehensive examination of the GABAergic system in FXS using hybrid positron emission tomography/ magnetic resonance imaging (PET/MRI).

This study is to investigate the safety, tolerability and efficacy of Sulindac (HLX-0201) and Gaboxadol (HLX-0206) in males with Fragile X Syndrome (FXS) with confirmed full FMR1 mutation treated over a 10 week period in an outpatient setting.

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 comprehensive description of decisional capacity of individuals with FXS; identify individual, family, and experiential factors associated with variability in decisional capacity; determine the validity of caregiver and expert ratings; and develop evidence-based guidelines for categorizing decisional capacity of individuals with FXS. The researchers will develop a methodologically rigorous and conceptually grounded decision aid using digital technology to enhance participation of individuals with FXS in the consent process.

In this research study we want to understand the effectiveness of a drug treatment, acamprosate, for interfering symptoms (i.e., inattention/hyperactivity, social impairment) associated 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)