fragile X syndrome
Information
- Disease name
- fragile X syndrome
- Disease ID
- DOID:14261
- Description
- "A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function." [url:http\://en.wikipedia.org/wiki/Fragile_X_syndrome, url:http\://omim.org/entry/300624, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01254045 | Completed | Phase 2 | Double-blind Placebo Controlled Study of Oxytocin in Fragile X Syndrome | February 2007 | January 2010 |
| NCT00220584 | Completed | Phase 1 | An Open-Label Trial of Donepezil in Fragile X Syndrome | July 2005 | July 2009 |
| NCT00892580 | Completed | Biomarker and DNA Collection in Subjects Participating in Protocol 22003 | May 2009 | ||
| NCT00895752 | Completed | Phase 4 | Riluzole in Fragile X Syndrome | April 2009 | July 2010 |
| NCT00965432 | Completed | Phase 1 | A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107 | September 2009 | February 2010 |
| NCT01015430 | Completed | Phase 2 | A Study With RO4917523 in Patients With Fragile X Syndrome | November 2009 | January 2011 |
| NCT01053156 | Completed | N/A | Trial of Minocycline to Treat Children With Fragile X Syndrome | January 2010 | December 2011 |
| NCT01120626 | Completed | Phase 2 | Randomized Controlled Study of Donepezil in Fragile X Syndrome | September 2009 | December 2013 |
| NCT01204151 | Completed | N/A | Teaching Math Skills to Individuals With Fragile X Syndrome | September 2008 | July 2013 |
| NCT01253629 | Completed | Phase 2 | Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome | November 2010 | August 2013 |
| NCT00054730 | Completed | Phase 2 | Effects of CX516 on Functioning in Fragile X Syndrome and Autism | June 2002 | |
| NCT01282268 | Completed | Phase 3 | Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome | May 2011 | |
| NCT01300923 | Completed | Phase 2 | Acamprosate in Youth With Fragile X Syndrome | August 2010 | September 2011 |
| NCT01325220 | Completed | Phase 3 | Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome | June 2011 | |
| NCT01329770 | Completed | Phase 2 | Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X Syndrome | December 2010 | April 2015 |
| NCT01357239 | Completed | Phase 2 | Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome | May 2011 | January 2014 |
| NCT01364818 | Completed | Brain Connectivity in Neurodevelopmental Disorders in Response to Treatment | September 2011 | December 2014 | |
| NCT01474746 | Completed | Phase 2 | Trial of Sertraline to Treat Children With Fragile X Syndrome | January 2012 | September 2015 |
| NCT01482143 | Completed | Phase 1 | Clinical Study to Assess the Pharmacokinetics, Safety and Tolerability of Single and Multiple Oral Doses of AFQ056 in Children With Fragile X Syndrome (FXS) | March 2012 | October 2013 |
| NCT01517698 | Completed | Phase 2 | A Study of RO4917523 in Patients With Fragile X Syndrome | May 2012 | April 2014 |
| NCT01725152 | Completed | Phase 2 | Ganaxolone Treatment in Children With Fragile X Syndrome | November 2012 | November 1, 2016 |
| NCT01750957 | Completed | Phase 2 | A Study of RO4917523 in Pediatric Patients With Fragile X Syndrome | February 2013 | April 2014 |
| NCT01855971 | Completed | Phase 2 | "Using Epigallocatechin Gallate (EGCG) and Cognitive Training to Modulate Cognitive Performance in Patients With Fragile X Syndrome" (TESFX) | June 11, 2013 | October 31, 2015 |
| NCT01894958 | Completed | Phase 2 | A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome | January 2014 | October 2015 |
| NCT01911455 | Completed | Phase 1 | Study of Acamprosate in Fragile x Syndrome | August 27, 2013 | November 8, 2018 |
| NCT02126995 | Completed | Phase 2 | A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X Syndrome | June 2014 | June 2015 |
| NCT02616796 | Completed | Phase 1/Phase 2 | Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome | April 2015 | December 2020 |
| NCT02642653 | Completed | Phase 4 | Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome | January 2016 | July 2018 |
| NCT02680379 | Completed | Phase 2 | Combined Treatment of Minocycline and Lovastatin to Treat Individuals With Fragile X Syndrome | March 2016 | November 2017 |
| NCT02747394 | Completed | N/A | Cognitive Training for Fragile X Syndrome | January 2013 | October 18, 2018 |
| NCT02920892 | Completed | Phase 2 | AFQ056 for Language Learning in Children With FXS | August 17, 2017 | May 17, 2022 |
| NCT02998151 | Completed | Early Phase 1 | Neurophysiological and Acute Pharmacological Studies in FXS Patients | January 2016 | November 2020 |
| NCT03109756 | Completed | Phase 1 | Single Dose Pharmacokinetic (PK) Study | April 3, 2017 | November 28, 2017 |
| NCT03140813 | Completed | Phase 1 | An Initial Study of AZD7325 in Adults With Fragile X Syndrome | January 16, 2018 | June 18, 2020 |
| NCT03479476 | Completed | Phase 2/Phase 3 | A Trial of Metformin in Individuals With Fragile X Syndrome | April 30, 2018 | May 1, 2024 |
| NCT03510156 | Completed | N/A | Treatment of Disruptive Behaviors in Fragile X Syndrome | July 2016 | March 2022 |
| NCT03569631 | Completed | Phase 2 | A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome | July 9, 2018 | July 31, 2020 |
| NCT03614663 | Completed | Phase 2/Phase 3 | Clinical Study Of caNNabidiol in childrEn and adolesCenTs With Fragile X (CONNECT-FX) | June 12, 2018 | June 14, 2020 |
| NCT03624556 | Completed | N/A | Pediatric Exploratory Research Study of EGCG Use and Safety (PERSEUS) | January 29, 2018 | November 30, 2020 |
| NCT03722290 | Completed | Phase 2 | Metformin in Children and Adults With Fragile X Syndrome | September 1, 2018 | November 1, 2020 |
| NCT05030129 | Completed | Phase 2 | Single Blind Study of Ergoloid Mesylates, 5-HTP and the Combination in Adult Males With Fragile X Syndrome | October 7, 2021 | January 19, 2023 |
| NCT00362843 | Completed | Protein Synthesis in the Brain of Patients With Fragile X Syndrome | August 22, 2006 | ||
| NCT00420459 | Completed | Phase 2 | A Prospective Open-label Study of Aripiprazole in Fragile X Syndrome | April 2007 | March 2010 |
| NCT00637221 | Completed | Phase 1/Phase 2 | Open Label Study Investigating Safety and Efficacy of NPL2009 50 mg - 150 mg on Prepulse Inhibition Tests and Continuous Performance Tasks, Adults With Fragile X Syndrome | March 2008 | April 2008 |
| NCT00718341 | Completed | Phase 2 | Efficacy, Safety and Tolerability of AFQ056 in Fragile X Patients | June 2008 | |
| NCT00788073 | Completed | Phase 2 | Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome | November 2008 | May 2010 |
| NCT00823368 | Completed | Biomarker Testing and DNA Collection in Subjects Participating in Protocol 22001 | January 2009 | ||
| NCT00858689 | Completed | N/A | Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome | October 2007 | January 2009 |
| NCT00870974 | Completed | Phase 1 | A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric Conditions | March 2009 | November 2016 |
| NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 | |
| NCT05301361 | Enrolling by invitation | Phase 1 | Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities | February 1, 2023 | September 29, 2026 |
| NCT05367960 | Enrolling by invitation | Phase 3 | An Open-Label Extension Study of BPN14770 in Subjects With Fragile X Syndrome | November 1, 2022 | December 2025 |
| NCT03802799 | Enrolling by invitation | Phase 2/Phase 3 | Open Label Extension to Assess the Long-Term Safety and Tolerability of ZYN002 in Children and Adolescents With FXS | November 9, 2018 | August 31, 2027 |
| NCT06139172 | Enrolling by invitation | N/A | Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities | September 15, 2023 | December 2026 |
| NCT03836300 | Enrolling by invitation | N/A | Parent and Infant Inter(X)Action Intervention (PIXI) | November 30, 2018 | June 30, 2025 |
| NCT06088589 | Not yet recruiting | N/A | Speech-in-noise Perception in Autism and Fragile X | November 1, 2023 | October 31, 2024 |
| NCT06147414 | Not yet recruiting | Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders | April 2024 | December 2026 | |
| NCT06261450 | Not yet recruiting | Phase 2 | Effect of CBD on the Brain | July 1, 2024 | August 15, 2027 |
| NCT06261502 | Not yet recruiting | Phase 2 | Effect of CANnabidiol on Anxiety and GABAergic Function in Individuals With Fragile-X Syndrome | July 1, 2024 | August 1, 2027 |
| NCT06081348 | Not yet recruiting | Phase 2 | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders | October 2023 | April 2024 |
| NCT05295277 | Recruiting | Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort | November 30, 2020 | June 30, 2024 | |
| NCT05358886 | Recruiting | Phase 3 | A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome | November 1, 2022 | July 2024 |
| NCT05418049 | Recruiting | Phase 2 | Evaluating the Neurophysiologic and Clinical Effects of Single Dose Drug Challenge | September 8, 2022 | June 30, 2025 |
| NCT00768820 | Recruiting | Phase 4 | The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome | May 2001 | August 2024 |
| NCT05957549 | Recruiting | N/A | Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG | October 4, 2022 | August 31, 2027 |
| NCT02769949 | Recruiting | Pediatric Patients With Metabolic or Other Genetic Disorders | May 3, 2016 | January 1, 2029 | |
| NCT06227780 | Recruiting | N/A | Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders | May 24, 2023 | May 24, 2028 |
| NCT06279858 | Recruiting | N/A | Probiotic Intervention for Microbiome Modifications and Clinical Improvements in Fragile X Syndrome | January 1, 2024 | December 31, 2024 |
| NCT06293027 | Recruiting | Optical Imaging as a Tool for Monitoring Brain Function in Fragile X Syndrome | June 1, 2023 | December 15, 2025 | |
| NCT06334419 | Recruiting | Phase 2 | Placebo-Controlled, Single-Dose Challenge Study of Gaboxadol in Adult Males With Fragile X Syndrome (FXS) | January 29, 2024 | September 30, 2024 |
| NCT03862950 | Recruiting | Phase 2 | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) | May 24, 2019 | June 2026 |
| NCT04977986 | Recruiting | Phase 3 | Clinical Study of Cannabidiol in Children, Adolescents, and Young Adults With Fragile X Syndrome | September 13, 2021 | May 2025 |
| NCT06413537 | Recruiting | Phase 2 | Study of SPG601 in Adult Men With Fragile X Syndrome | June 18, 2024 | February 2025 |
| NCT05120505 | Recruiting | Phase 4 | Metformin in Children With Fragile X Syndrome | December 29, 2021 | December 30, 2024 |
| NCT05163808 | Recruiting | Phase 2/Phase 3 | A Randomized Study of BPN14770 in Male Adolescents (Aged 9 to < 18 Years) With Fragile X Syndrome | March 29, 2022 | July 2024 |
| NCT05832255 | Suspended | Phase 2 | An Investigation of Psilocybin on Behavioural and Cognitive Symptoms of Adults With Fragile X Syndrome | March 28, 2023 | May 2024 |
| NCT01325740 | Suspended | Phase 2 | A Study to Assess the Tolerability of a Single Dose of STX107 in Adults With Fragile X Syndrome | May 2011 | September 2013 |
| NCT01013480 | Terminated | Phase 2 | An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome | November 2009 | December 2012 |
| NCT01187524 | Terminated | The Natural History of Reproductive and Overall Health in Girls and Women With a Pre-Mutation in the FMR1 Gene; Creation of a Patient Registry | August 5, 2010 | May 31, 2013 | |
| NCT01433354 | Terminated | Phase 2/Phase 3 | Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label) | November 2011 | September 2014 |
| NCT01348087 | Terminated | Phase 2 | Long-term, Safety, Tolerability and Efficacy Study of AFQ056 in Adult Patients With Fragile X Syndrome | August 2011 | September 2014 |
| NCT01555333 | Terminated | Phase 3 | An Open Label Extension Study in Subjects With Fragile X Syndrome | November 2011 | July 2013 |
| NCT01616589 | Unknown status | Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay | July 2012 | December 2012 | |
| NCT04141163 | Unknown status | Phase 1/Phase 2 | Metformin in Patients With Fragile X | October 29, 2019 | March 2021 |
| NCT04610424 | Unknown status | N/A | Cooperative Parent Mediated Therapy in Children With Fragile X Syndrome and Williams Syndrome | May 17, 2017 | June 2021 |
| NCT04698551 | Unknown status | NIPD on cffDNA for Triplet Repeat Diseases | September 1, 2020 | December 1, 2023 | |
| NCT00334971 | Unknown status | N/A | Aromatase Activity and Ovarian Growth Factors in African-American Versus Caucasian Women | September 2004 | January 2018 |
| NCT04823052 | Withdrawn | Phase 2 | Investigation of Sulindac (HLX-0201) and Gaboxadol (HLX-0206) in Male Fragile X Syndrome Patients Aged 13-40 | May 25, 2022 | October 19, 2022 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:6464
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q99.2
- Cross Reference ID (Disease Ontology)
- ICD9CM:759.83
- Cross Reference ID (Disease Ontology)
- MESH:D005600
- Cross Reference ID (Disease Ontology)
- MIM:300624
- Cross Reference ID (Disease Ontology)
- NCI:C84717
- Cross Reference ID (Disease Ontology)
- ORDO:908
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:390007001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0016667
- Exact Synonym (Disease Ontology)
- FRAGILE X MENTAL RETARDATION SYNDROME
- Exact Synonym (Disease Ontology)
- MARKER X SYNDROME
- Exact Synonym (Disease Ontology)
- MARTIN-BELL SYNDROME
- OrphaNumber from OrphaNet (Orphanet)
- 908
- MeSH unique ID (MeSH (Medical Subject Headings))
- D005600