View clinical trials related to Fragile X Syndrome.
Filter by: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 effective treatments for affected individuals is lacking. Based on information from both human and animal studies, one cause of intellectual disability in FraX may be related to deficits in a particular brain neurotransmitter system (the "cholinergic" system). Thus, the investigators propose to use a specific medication, donepezil, to augment cholinergic system in adolescents affected by FraX. If found to be effective, the knowledge generated by this research may also be relevant to other developmental disorders that share common disease pathways with FraX.
This is a single center study at the UC Davis MIND Institute in patients age 3.5-16 years of age with fragile X syndrome (FXS), funded by a National Fragile X Foundation Grant. It is a controlled trial of minocycline, an antibiotic commonly used in children for infection or for treatment of neurodegenerative disorders. We are investigating its use in FXS because it lowers matrix metalloproteinase 9 (MMP9) levels, which are high in FXS, and it also strengthens brain connections in the animal models of FXS. We hypothesize that minocycline will likely be helpful for language, behavior and/or cognition in fragile X patients.
This randomized, double-blind multiple ascending dose study will evaluate the safety and tolerability, pharmacokinetics and efficacy of RO4917523 in patients with Fragile X Syndrome. The patients will be randomized to receive either active drug or placebo. The anticipated time on study treatment is 6 weeks. The target sample size is <100 patients.
Study 22001, "A Double-Blind, Placebo-Controlled, Flexible-Dose Evaluation of the Efficacy, Safety, and Tolerability of STX209 in the Treatment of Irritability in Subjects with Fragile X Syndrome" currently is evaluating the efficacy of STX209 (R-baclofen) for management of typical problem behaviors, such as irritability and aggression, in subjects with FXS. This study (22002) will enter subjects who complete Study 22001 into a long-term, open-label study.The open-label extension protocol will provide necessary data on the long-term safety and tolerability of STX209 among subjects with FXS who receive treatment under conditions more closely reflective of their general medical care.
The objectives of this study are to determine the safety and tolerability of single oral doses of STX107 and to determine basic pharmacokinetic (PK) parameters following single oral doses of STX107 when administered via an oral suspension
The purpose of this study is to investigate the effectiveness and tolerability of riluzole in adults with Fragile X Syndrome.
The subjects that meet the inclusion and exclusion criteria and consent to participate in protocol 22003 will be offered participation in 22003A which will evaluate secreted protein before and after treatment with STX209 and placebo to determine if they correlate with effectiveness of treatment or susceptibility to treatment with STX209. These same subjects will also be asked to contribute a blood sample for DNA (deoxyribonucleic acid) collection. The investigators will study the DNA to determine if STX209 works better in people with specific gene variations, or to find new gene variations that predict how well STX209 works.
Measurement of metabotropic glutamate receptor type 5 (mGluR5) binding capacity in the brain, may be a valuable tool in the early detection, understanding, or evaluation of Parkinson disease (PD), Huntington disease (HD), Fragile X syndrome (FXS), Autism Spectrum Disorder(ASD), Alzheimer's Disease(AD), and subjects with mild cognitive impairment (MCI). The goal of this study is to assess [18F]F-PEB positron emission tomography (PET) imaging as a tool to detect mGluR5 density in the brain of PD, HD, FXS ASD, AD, and MCI research participants and similarly aged healthy subjects.
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 found to reverse the structural abnormalities that are seen their brain cells. The purpose of this research study is to determine if minocycline is an effective treatment for patients with fragile X syndrome (FXS).
The subjects that meet the inclusion and exclusion criteria and consent to participate in protocol 22001 will be offered participation in 22001A which will evaluate secreted protein before and after treatment with STX209 and placebo to determine if they correlate with effectiveness of treatment or susceptibility to treatment with STX209. These same subjects will also be asked to contribute a blood sample for DNA (deoxyribonucleic acid) collection. The investigators will study the DNA to determine if STX209 works better in people with specific gene variations, or to find new gene variations that predict how well STX209 works.