Study Results
Results pending
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
Recruitment Status
COMPLETED
Total Enrollment
20 participants
Study Classification
OBSERVATIONAL
Study Start Date
2024-12-16
Study Completion Date
2025-03-20
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
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
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
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
NCT00637221
Fragile X Syndrome
COMPLETED
PHASE1/PHASE2
A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome
NCT01894958
Fragile X Syndrome
COMPLETED
PHASE2
Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome
NCT01253629
Fragile X Syndrome
COMPLETED
PHASE2
An Open Label Extension Study in Subjects With Fragile X Syndrome
NCT01555333
Fragile X Syndrome
TERMINATED
PHASE3
A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome
NCT03569631
Fragile X Syndrome
FXS
Fra(X) Syndrome
COMPLETED
PHASE2
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
This study consists of a screening period and two cross sectional evaluations assessed in one month interval (test/re-test), first on the Visit 1 (Basal) and the other on the Visit 2 (end-of-study visit, EOS).
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Fragile X Syndrome (FXS)
Neurotypical Adults
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
Observational Model Type
CASE_CONTROL
Study Time Perspective
PROSPECTIVE
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
Group 1
Fragile X syndrome
Any
Intervention Type
OTHER
Any
Group 2
Typically Developing Subjects
Any
Intervention Type
OTHER
Any
Interventions
Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.
Any
Any
Intervention Type
OTHER
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
* Clinical and molecular diagnosis of Fragile X syndrome (\> 200 CGG repeats in the promoter region of the FMR1 gene).
* Legal representative understands and accepts the study procedures. If only one parent signs, he/she should confirm that the other parent does not object to the patient's participation in the research project.
* Subject assenting and/or willing to participate.
* Signed informed consent by a legal representative before any study-mandated procedure.
* Subject is independently mobile and has sufficient vision and hearing to participate in study evaluations. They must be able to be understood most of the time and must not use other forms of communication, signs, symbol boards or devices as their primary form of communication.
* Subjects must have a parent, or other reliable caregiver, who agrees to accompany the subject to all study visits, provide information about the subject as required by the protocol, and ensure compliance with study tests.
* Subjects are expected to complete all procedures scheduled during the study visits.
* Abstinence for any drug abuse 72 hours prior to the screening visit and the observation days, except for nicotine (24 hours).
* Able to read Spanish and/or Catalan and to adhere to the study requirements.
* Signed informed consent prior to any study-mandated procedure.
* Legal representative understands and accepts the study procedures. If only one parent signs, he/she should confirm that the other parent does not object to the patient's participation in the research project.
* Subject assenting and/or willing to participate.
* Signed informed consent by a legal representative before any study-mandated procedure.
* Subject is independently mobile and has sufficient vision and hearing to participate in study evaluations. They must be able to be understood most of the time and must not use other forms of communication, signs, symbol boards or devices as their primary form of communication.
* Subjects must have a parent, or other reliable caregiver, who agrees to accompany the subject to all study visits, provide information about the subject as required by the protocol, and ensure compliance with study tests.
* Subjects are expected to complete all procedures scheduled during the study visits.
* Abstinence for any drug abuse 72 hours prior to the screening visit and the observation days, except for nicotine (24 hours).
* Able to read Spanish and/or Catalan and to adhere to the study requirements.
* Signed informed consent prior to any study-mandated procedure.
Exclusion Criteria
* Personal history of infantile spasms/convulsions/epilepsy, severe head trauma or CNS infections (e.g. meningitis), with the exception of infantile febrile seizures.
* Subjects with a current diagnosis including severe autism spectrum disorder or any primary psychiatric diagnosis according to DSM-5 (Diagnostic and Statistical Manual of Mental Disorders-DSM-5). Diagnoses that are secondary, such as attention deficit hyperactivity disorder, depressive disorders and conduct disorders are allowed as long as they are considered to not interfere with study conduct and are stable during the 3 months before inclusion. Related allowed treatments must be on stable dosing for the last 3 months.
* Substance use disorder according to the DSM-5 criteria.
* Epileptiform abnormalities (excluding isolated sharp waves and beyond those expected for age).
* Any life-threatening disease.
* Any other clinically relevant concomitant disease or condition or finding at screening that in the judgment of the investigator could interfere with, the treatment thereof might interfere with, the conduct of the study and related procedures and/or might bias the study results interpretation, or could jeopardize the subject's safety.
* Any clinically significant findings in physical examination including vital signs.
* Neuroleptic or antidepressant (ISRS) drugs within 3 months before inclusion, except for sertraline at a maximum 100 mg/day, and stable for the last 3 months before inclusion.
* Any prescription or over-the-counter drug (except occasional use of paracetamol) in the last 2 weeks before screening.
* Patient included in a clinical study with drugs in the last three months prior to inclusion.
* Life-time clinically significant cardiovascular, renal, pulmonary, hepatic, onco-haematological, endocrine, gastrointestinal, mental or neurological disease.
* Any other clinically relevant concomitant disease or condition or finding at screening that in the judgment of the investigator could interfere with, the treatment thereof might interfere with, the conduct of the study and related procedures and/or might bias the study results interpretation, or could jeopardize the subject's safety.
* Any clinically significant findings in physical examination including vital signs.
* Neuroleptic drugs within 3 months prior to inclusion.
* Any prescription or over-the-counter drug (except occasional use of paracetamol) in the last 2 weeks before screening.
* Patient included in a clinical study with drugs in the last three months before inclusion.
* Personal history of infantile spasms/convulsions/epilepsy, severe head trauma or CNS infections (e.g. meningitis), except for infantile febrile seizures.
* Subjects with a current diagnosis including autism spectrum disorder or any primary psychiatric diagnosis according to DSM-5 (Diagnostic and Statistical Manual of Mental Disorders-DSM-5). Diagnoses that are secondary, such as attention deficit hyperactivity disorder, depressive disorders and conduct disorders are allowed as long as they are considered to not interfere with study conduct and are stable during the 3 months before inclusion. Related allowed treatments must be on stable dosing for the last 3 months.
* Substance use disorder according to the DSM-5 criteria except for mild alcohol use disorder and/or mild or moderate nicotine use disorder.
* Positive urine test for drugs of abuse or alcohol breath test at screening.
* Epileptiform abnormalities (excluding isolated sharp waves and beyond those expected for age).
* Any life-threatening disease.
* Subjects with a current diagnosis including severe autism spectrum disorder or any primary psychiatric diagnosis according to DSM-5 (Diagnostic and Statistical Manual of Mental Disorders-DSM-5). Diagnoses that are secondary, such as attention deficit hyperactivity disorder, depressive disorders and conduct disorders are allowed as long as they are considered to not interfere with study conduct and are stable during the 3 months before inclusion. Related allowed treatments must be on stable dosing for the last 3 months.
* Substance use disorder according to the DSM-5 criteria.
* Epileptiform abnormalities (excluding isolated sharp waves and beyond those expected for age).
* Any life-threatening disease.
* Any other clinically relevant concomitant disease or condition or finding at screening that in the judgment of the investigator could interfere with, the treatment thereof might interfere with, the conduct of the study and related procedures and/or might bias the study results interpretation, or could jeopardize the subject's safety.
* Any clinically significant findings in physical examination including vital signs.
* Neuroleptic or antidepressant (ISRS) drugs within 3 months before inclusion, except for sertraline at a maximum 100 mg/day, and stable for the last 3 months before inclusion.
* Any prescription or over-the-counter drug (except occasional use of paracetamol) in the last 2 weeks before screening.
* Patient included in a clinical study with drugs in the last three months prior to inclusion.
* Life-time clinically significant cardiovascular, renal, pulmonary, hepatic, onco-haematological, endocrine, gastrointestinal, mental or neurological disease.
* Any other clinically relevant concomitant disease or condition or finding at screening that in the judgment of the investigator could interfere with, the treatment thereof might interfere with, the conduct of the study and related procedures and/or might bias the study results interpretation, or could jeopardize the subject's safety.
* Any clinically significant findings in physical examination including vital signs.
* Neuroleptic drugs within 3 months prior to inclusion.
* Any prescription or over-the-counter drug (except occasional use of paracetamol) in the last 2 weeks before screening.
* Patient included in a clinical study with drugs in the last three months before inclusion.
* Personal history of infantile spasms/convulsions/epilepsy, severe head trauma or CNS infections (e.g. meningitis), except for infantile febrile seizures.
* Subjects with a current diagnosis including autism spectrum disorder or any primary psychiatric diagnosis according to DSM-5 (Diagnostic and Statistical Manual of Mental Disorders-DSM-5). Diagnoses that are secondary, such as attention deficit hyperactivity disorder, depressive disorders and conduct disorders are allowed as long as they are considered to not interfere with study conduct and are stable during the 3 months before inclusion. Related allowed treatments must be on stable dosing for the last 3 months.
* Substance use disorder according to the DSM-5 criteria except for mild alcohol use disorder and/or mild or moderate nicotine use disorder.
* Positive urine test for drugs of abuse or alcohol breath test at screening.
* Epileptiform abnormalities (excluding isolated sharp waves and beyond those expected for age).
* Any life-threatening disease.
Minimum Eligible Age
18 Years
Maximum Eligible Age
55 Years
Eligible Sex
ALL
Accepts Healthy Volunteers
Yes
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
Hospital del Mar Research Institute (IMIM)
OTHER
Sponsor Role
collaborator
Corporacion Parc Tauli
OTHER
Sponsor Role
collaborator
Ministry of Science and Innovation, Spain
OTHER_GOV
Sponsor Role
collaborator
Connecta Therapeutics, S.L.
INDUSTRY
Sponsor Role
lead
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Responsibility Role
SPONSOR
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
Rafael De la Torre Fornell, Pharm, PhD
Role: PRINCIPAL_INVESTIGATOR
Hospital del Mar Research Institute
Ana Roche Martínez, MD, PhD
Role: PRINCIPAL_INVESTIGATOR
Consorci Corporació Sanitària Parc Taulí. Institut d'Investigació i Innovació Parc Taulí (I3PT)
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
Hospital del Mar Research Institute (HMRI)
Barcelona, Barcelona, Spain
Site Status
Consorci Corporació Sanitaria Parc Taulí. Institut Investigació i Innovació Parc Taulí (I3PT)
Sabadell, Barcelona, Spain
Site Status
Countries
Review the countries where the study has at least one active or historical site.
Spain
References
Explore related publications, articles, or registry entries linked to this study.
Sotoudeh Anvari M, Vasei H, Najmabadi H, Badv RS, Golipour A, Mohammadi-Yeganeh S, Salehi S, Mohamadi M, Goodarzynejad H, Mowla SJ. Identification of microRNAs associated with human fragile X syndrome using next-generation sequencing. Sci Rep. 2022 Mar 23;12(1):5011. doi: 10.1038/s41598-022-08916-4.
Reference Type
BACKGROUND
Couto RR, Kubaski F, Siebert M, Felix TM, Brusius-Facchin AC, Leistner-Segal S. Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary Study. Neurol Genet. 2022 Oct 26;8(6):e200024. doi: 10.1212/NXG.0000000000200024. eCollection 2022 Dec.
Reference Type
BACKGROUND
Lin SL. microRNAs and Fragile X Syndrome. Adv Exp Med Biol. 2015;888:107-21. doi: 10.1007/978-3-319-22671-2_7.
Reference Type
BACKGROUND
Daly I, Pichiorri F, Faller J, Kaiser V, Kreilinger A, Scherer R, Muller-Putz G. What does clean EEG look like? Annu Int Conf IEEE Eng Med Biol Soc. 2012;2012:3963-6. doi: 10.1109/EMBC.2012.6346834.
Reference Type
BACKGROUND
Castren M, Paakkonen A, Tarkka IM, Ryynanen M, Partanen J. Augmentation of auditory N1 in children with fragile X syndrome. Brain Topogr. 2003 Spring;15(3):165-71. doi: 10.1023/a:1022606200636.
Reference Type
BACKGROUND
Kenny A, Wright D, Stanfield AC. EEG as a translational biomarker and outcome measure in fragile X syndrome. Transl Psychiatry. 2022 Jan 24;12(1):34. doi: 10.1038/s41398-022-01796-2.
Reference Type
BACKGROUND
Varni JW, Limbers CA. The PedsQL 4.0 Generic Core Scales Young Adult Version: feasibility, reliability and validity in a university student population. J Health Psychol. 2009 May;14(4):611-22. doi: 10.1177/1359105309103580.
Reference Type
BACKGROUND
Aman MG, Norris M, Kaat AJ, Andrews H, Choo TH, Chen C, Wheeler A, Bann C, Erickson C. Factor Structure of the Aberrant Behavior Checklist in Individuals with Fragile X Syndrome: Clarifications and Future Guidance. J Child Adolesc Psychopharmacol. 2020 Oct;30(8):512-521. doi: 10.1089/cap.2019.0177. Epub 2020 Aug 3.
Reference Type
BACKGROUND
Prosser H, Moss S, Costello H, Simpson N, Patel P, Rowe S. Reliability and validity of the Mini PAS-ADD for assessing psychiatric disorders in adults with intellectual disability. J Intellect Disabil Res. 1998 Aug;42 ( Pt 4):264-72. doi: 10.1046/j.1365-2788.1998.00146.x.
Reference Type
BACKGROUND
Shields RH, Kaat AJ, McKenzie FJ, Drayton A, Sansone SM, Coleman J, Michalak C, Riley K, Berry-Kravis E, Gershon RC, Widaman KF, Hessl D. Validation of the NIH Toolbox Cognitive Battery in intellectual disability. Neurology. 2020 Mar 24;94(12):e1229-e1240. doi: 10.1212/WNL.0000000000009131. Epub 2020 Feb 24.
Reference Type
BACKGROUND
Buysse DJ, Reynolds CF 3rd, Monk TH, Berman SR, Kupfer DJ. The Pittsburgh Sleep Quality Index: a new instrument for psychiatric practice and research. Psychiatry Res. 1989 May;28(2):193-213. doi: 10.1016/0165-1781(89)90047-4.
Reference Type
BACKGROUND
Tottenham N, Tanaka JW, Leon AC, McCarry T, Nurse M, Hare TA, Marcus DJ, Westerlund A, Casey BJ, Nelson C. The NimStim set of facial expressions: judgments from untrained research participants. Psychiatry Res. 2009 Aug 15;168(3):242-9. doi: 10.1016/j.psychres.2008.05.006. Epub 2009 Jun 28.
Reference Type
BACKGROUND
Bailey DB Jr, Berry-Kravis E, Wheeler A, Raspa M, Merrien F, Ricart J, Koumaras B, Rosenkranz G, Tomlinson M, von Raison F, Apostol G. Mavoglurant in adolescents with fragile X syndrome: analysis of Clinical Global Impression-Improvement source data from a double-blind therapeutic study followed by an open-label, long-term extension study. J Neurodev Disord. 2016;8:1. doi: 10.1186/s11689-015-9134-5. Epub 2015 Dec 15.
Reference Type
BACKGROUND
Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet. 2000 Jan;66(1):6-15. doi: 10.1086/302720.
Reference Type
BACKGROUND
Zafarullah M, Li J, Salemi MR, Phinney BS, Durbin-Johnson BP, Hagerman R, Hessl D, Rivera SM, Tassone F. Blood Proteome Profiling Reveals Biomarkers and Pathway Alterations in Fragile X PM at Risk for Developing FXTAS. Int J Mol Sci. 2023 Aug 30;24(17):13477. doi: 10.3390/ijms241713477.
Reference Type
BACKGROUND
Bowling H, Bhattacharya A, Zhang G, Alam D, Lebowitz JZ, Bohm-Levine N, Lin D, Singha P, Mamcarz M, Puckett R, Zhou L, Aryal S, Sharp K, Kirshenbaum K, Berry-Kravis E, Neubert TA, Klann E. Altered steady state and activity-dependent de novo protein expression in fragile X syndrome. Nat Commun. 2019 Apr 12;10(1):1710. doi: 10.1038/s41467-019-09553-8.
Reference Type
BACKGROUND
AlOlaby RR, Sweha SR, Silva M, Durbin-Johnson B, Yrigollen CM, Pretto D, Hagerman RJ, Tassone F. Molecular biomarkers predictive of sertraline treatment response in young children with fragile X syndrome. Brain Dev. 2017 Jun;39(6):483-492. doi: 10.1016/j.braindev.2017.01.012. Epub 2017 Feb 24.
Reference Type
BACKGROUND
Bekheet MHY, Mansour LA, Elkaffas RH, Kamel MA, Elmonem MA. Serum matrix metalloproteinase-9 (MMP9) and amyloid-beta protein precursor (APP) as potential biomarkers in children with Fragile-X syndrome: A cross sectional study. Clin Biochem. 2023 Nov;121-122:110659. doi: 10.1016/j.clinbiochem.2023.110659. Epub 2023 Oct 4.
Reference Type
BACKGROUND
Dionne O, Corbin F. A new strategy to uncover fragile X proteomic biomarkers using the nascent proteome of peripheral blood mononuclear cells (PBMCs). Sci Rep. 2021 Jul 26;11(1):15148. doi: 10.1038/s41598-021-94027-5.
Reference Type
BACKGROUND
Zafarullah M, Tassone F. Molecular Biomarkers in Fragile X Syndrome. Brain Sci. 2019 Apr 27;9(5):96. doi: 10.3390/brainsci9050096.
Reference Type
BACKGROUND
Hessl D, Glaser B, Dyer-Friedman J, Blasey C, Hastie T, Gunnar M, Reiss AL. Cortisol and behavior in fragile X syndrome. Psychoneuroendocrinology. 2002 Oct;27(7):855-72. doi: 10.1016/s0306-4530(01)00087-7.
Reference Type
BACKGROUND
Russell E, Koren G, Rieder M, Van Uum S. Hair cortisol as a biological marker of chronic stress: current status, future directions and unanswered questions. Psychoneuroendocrinology. 2012 May;37(5):589-601. doi: 10.1016/j.psyneuen.2011.09.009. Epub 2011 Oct 4.
Reference Type
BACKGROUND
Wright KD, Hickman R, Laudenslager ML. Hair Cortisol Analysis: A Promising Biomarker of HPA Activation in Older Adults. Gerontologist. 2015 Jun;55 Suppl 1(Suppl 1):S140-5. doi: 10.1093/geront/gnu174.
Reference Type
BACKGROUND
Prono F, Bernardi K, Ferri R, Bruni O. The Role of Vitamin D in Sleep Disorders of Children and Adolescents: A Systematic Review. Int J Mol Sci. 2022 Jan 27;23(3):1430. doi: 10.3390/ijms23031430.
Reference Type
BACKGROUND
Hardiman RL, Bratt A. Hypothalamic-pituitary-adrenal axis function in Fragile X Syndrome and its relationship to behaviour: A systematic review. Physiol Behav. 2016 Dec 1;167:341-353. doi: 10.1016/j.physbeh.2016.09.030. Epub 2016 Oct 5.
Reference Type
BACKGROUND
Dueck A, Reis O, Bastian M, van Treeck L, Weirich S, Haessler F, Fiedler A, Koelch M, Berger C. Feasibility of a Complex Setting for Assessing Sleep and Circadian Rhythmicity in a Fragile X Cohort. Front Psychiatry. 2020 May 14;11:361. doi: 10.3389/fpsyt.2020.00361. eCollection 2020.
Reference Type
BACKGROUND
Farzin F, Scaggs F, Hervey C, Berry-Kravis E, Hessl D. Reliability of eye tracking and pupillometry measures in individuals with fragile X syndrome. J Autism Dev Disord. 2011 Nov;41(11):1515-22. doi: 10.1007/s10803-011-1176-2.
Reference Type
BACKGROUND
Klusek J, Moser C, Schmidt J, Abbeduto L, Roberts JE. A novel eye-tracking paradigm for indexing social avoidance-related behavior in fragile X syndrome. Am J Med Genet B Neuropsychiatr Genet. 2020 Jan;183(1):5-16. doi: 10.1002/ajmg.b.32757. Epub 2019 Aug 16.
Reference Type
BACKGROUND
Ethridge LE, Pedapati EV, Schmitt LM, Norris JE, Auger E, De Stefano LA, Sweeney JA, Erickson CA. Validating brain activity measures as reliable indicators of individual diagnostic group and genetically mediated sub-group membership Fragile X Syndrome. Res Sq [Preprint]. 2024 Jan 18:rs.3.rs-3849272. doi: 10.21203/rs.3.rs-3849272/v1.
Reference Type
BACKGROUND
Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, Warren ST. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet. 2009 Oct;85(4):503-14. doi: 10.1016/j.ajhg.2009.09.007.
Reference Type
BACKGROUND
Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J. Epidemiology of fragile X syndrome: a systematic review and meta-analysis. Am J Med Genet A. 2014 Jul;164A(7):1648-58. doi: 10.1002/ajmg.a.36511. Epub 2014 Apr 3.
Reference Type
BACKGROUND
Tassone F, Iong KP, Tong TH, Lo J, Gane LW, Berry-Kravis E, Nguyen D, Mu LY, Laffin J, Bailey DB, Hagerman RJ. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med. 2012 Dec 21;4(12):100. doi: 10.1186/gm401. eCollection 2012.
Reference Type
BACKGROUND
Crawford DC, Acuna JM, Sherman SL. FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med. 2001 Sep-Oct;3(5):359-71. doi: 10.1097/00125817-200109000-00006.
Reference Type
BACKGROUND
Kidd SA, Lachiewicz A, Barbouth D, Blitz RK, Delahunty C, McBrien D, Visootsak J, Berry-Kravis E. Fragile X syndrome: a review of associated medical problems. Pediatrics. 2014 Nov;134(5):995-1005. doi: 10.1542/peds.2013-4301. Epub 2014 Oct 6.
Reference Type
BACKGROUND
Rajan-Babu IS, Chong SS. Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders. Genes (Basel). 2016 Oct 14;7(10):87. doi: 10.3390/genes7100087.
Reference Type
BACKGROUND
Tassone F. Advanced technologies for the molecular diagnosis of fragile X syndrome. Expert Rev Mol Diagn. 2015;15(11):1465-73. doi: 10.1586/14737159.2015.1101348. Epub 2015 Oct 21.
Reference Type
BACKGROUND
Leehey MA. Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. J Investig Med. 2009 Dec;57(8):830-6. doi: 10.2310/JIM.0b013e3181af59c4.
Reference Type
BACKGROUND
Utari A, Adams E, Berry-Kravis E, Chavez A, Scaggs F, Ngotran L, Boyd A, Hessl D, Gane LW, Tassone F, Tartaglia N, Leehey MA, Hagerman RJ. Aging in fragile X syndrome. J Neurodev Disord. 2010 Jun;2(2):70-76. doi: 10.1007/s11689-010-9047-2. Epub 2010 May 12.
Reference Type
BACKGROUND
Cordeiro L, Ballinger E, Hagerman R, Hessl D. Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization. J Neurodev Disord. 2011 Mar;3(1):57-67. doi: 10.1007/s11689-010-9067-y. Epub 2010 Dec 3.
Reference Type
BACKGROUND
Bartholomay KL, Lee CH, Bruno JL, Lightbody AA, Reiss AL. Closing the Gender Gap in Fragile X Syndrome: Review on Females with FXS and Preliminary Research Findings. Brain Sci. 2019 Jan 12;9(1):11. doi: 10.3390/brainsci9010011.
Reference Type
BACKGROUND
Sauna-Aho O, Bjelogrlic-Laakso N, Siren A, Arvio M. Signs indicating dementia in Down, Williams and Fragile X syndromes. Mol Genet Genomic Med. 2018 Sep;6(5):855-860. doi: 10.1002/mgg3.430. Epub 2018 Jul 3.
Reference Type
BACKGROUND
McLennan Y, Polussa J, Tassone F, Hagerman R. Fragile x syndrome. Curr Genomics. 2011 May;12(3):216-24. doi: 10.2174/138920211795677886.
Reference Type
BACKGROUND
Bailey DB Jr, Raspa M, Olmsted M, Holiday DB. Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey. Am J Med Genet A. 2008 Aug 15;146A(16):2060-9. doi: 10.1002/ajmg.a.32439.
Reference Type
BACKGROUND
Pilaz LJ, Lennox AL, Rouanet JP, Silver DL. Dynamic mRNA Transport and Local Translation in Radial Glial Progenitors of the Developing Brain. Curr Biol. 2016 Dec 19;26(24):3383-3392. doi: 10.1016/j.cub.2016.10.040. Epub 2016 Dec 1.
Reference Type
BACKGROUND
Danesi C, Achuta VS, Corcoran P, Peteri UK, Turconi G, Matsui N, Albayrak I, Rezov V, Isaksson A, Castren ML. Increased Calcium Influx through L-type Calcium Channels in Human and Mouse Neural Progenitors Lacking Fragile X Mental Retardation Protein. Stem Cell Reports. 2018 Dec 11;11(6):1449-1461. doi: 10.1016/j.stemcr.2018.11.003. Epub 2018 Nov 29.
Reference Type
BACKGROUND
Pasciuto E, Ahmed T, Wahle T, Gardoni F, D'Andrea L, Pacini L, Jacquemont S, Tassone F, Balschun D, Dotti CG, Callaerts-Vegh Z, D'Hooge R, Muller UC, Di Luca M, De Strooper B, Bagni C. Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to Synaptic Deficits in Fragile X Syndrome. Neuron. 2015 Jul 15;87(2):382-98. doi: 10.1016/j.neuron.2015.06.032.
Reference Type
BACKGROUND
Sidhu H, Dansie LE, Hickmott PW, Ethell DW, Ethell IM. Genetic removal of matrix metalloproteinase 9 rescues the symptoms of fragile X syndrome in a mouse model. J Neurosci. 2014 Jul 23;34(30):9867-79. doi: 10.1523/JNEUROSCI.1162-14.2014.
Reference Type
BACKGROUND
Kashima R, Roy S, Ascano M, Martinez-Cerdeno V, Ariza-Torres J, Kim S, Louie J, Lu Y, Leyton P, Bloch KD, Kornberg TB, Hagerman PJ, Hagerman R, Lagna G, Hata A. Augmented noncanonical BMP type II receptor signaling mediates the synaptic abnormality of fragile X syndrome. Sci Signal. 2016 Jun 7;9(431):ra58. doi: 10.1126/scisignal.aaf6060.
Reference Type
BACKGROUND
Wahlstrom-Helgren S, Klyachko VA. GABAB receptor-mediated feed-forward circuit dysfunction in the mouse model of fragile X syndrome. J Physiol. 2015 Nov 15;593(22):5009-24. doi: 10.1113/JP271190. Epub 2015 Oct 2.
Reference Type
BACKGROUND
Gkogkas CG, Khoutorsky A, Cao R, Jafarnejad SM, Prager-Khoutorsky M, Giannakas N, Kaminari A, Fragkouli A, Nader K, Price TJ, Konicek BW, Graff JR, Tzinia AK, Lacaille JC, Sonenberg N. Pharmacogenetic inhibition of eIF4E-dependent Mmp9 mRNA translation reverses fragile X syndrome-like phenotypes. Cell Rep. 2014 Dec 11;9(5):1742-1755. doi: 10.1016/j.celrep.2014.10.064. Epub 2014 Nov 26.
Reference Type
BACKGROUND
Wang H, Wu LJ, Kim SS, Lee FJ, Gong B, Toyoda H, Ren M, Shang YZ, Xu H, Liu F, Zhao MG, Zhuo M. FMRP acts as a key messenger for dopamine modulation in the forebrain. Neuron. 2008 Aug 28;59(4):634-47. doi: 10.1016/j.neuron.2008.06.027.
Reference Type
BACKGROUND
Chandana SR, Behen ME, Juhasz C, Muzik O, Rothermel RD, Mangner TJ, Chakraborty PK, Chugani HT, Chugani DC. Significance of abnormalities in developmental trajectory and asymmetry of cortical serotonin synthesis in autism. Int J Dev Neurosci. 2005 Apr-May;23(2-3):171-82. doi: 10.1016/j.ijdevneu.2004.08.002.
Reference Type
BACKGROUND
Boccuto L, Chen CF, Pittman AR, Skinner CD, McCartney HJ, Jones K, Bochner BR, Stevenson RE, Schwartz CE. Decreased tryptophan metabolism in patients with autism spectrum disorders. Mol Autism. 2013 Jun 3;4(1):16. doi: 10.1186/2040-2392-4-16.
Reference Type
BACKGROUND
Hanson AC, Hagerman RJ. Serotonin dysregulation in Fragile X Syndrome: implications for treatment. Intractable Rare Dis Res. 2014 Nov;3(4):110-7. doi: 10.5582/irdr.2014.01027.
Reference Type
BACKGROUND
Feng Y, Gutekunst CA, Eberhart DE, Yi H, Warren ST, Hersch SM. Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes. J Neurosci. 1997 Mar 1;17(5):1539-47. doi: 10.1523/JNEUROSCI.17-05-01539.1997.
Reference Type
BACKGROUND
Gholizadeh S, Halder SK, Hampson DR. Expression of fragile X mental retardation protein in neurons and glia of the developing and adult mouse brain. Brain Res. 2015 Jan 30;1596:22-30. doi: 10.1016/j.brainres.2014.11.023. Epub 2014 Nov 20.
Reference Type
BACKGROUND
Richter JD, Bassell GJ, Klann E. Dysregulation and restoration of translational homeostasis in fragile X syndrome. Nat Rev Neurosci. 2015 Oct;16(10):595-605. doi: 10.1038/nrn4001. Epub 2015 Sep 9.
Reference Type
BACKGROUND
Darnell JC, Klann E. The translation of translational control by FMRP: therapeutic targets for FXS. Nat Neurosci. 2013 Nov;16(11):1530-6. doi: 10.1038/nn.3379. Epub 2013 Apr 14.
Reference Type
BACKGROUND
Bakker CE, Oostra BA. Understanding fragile X syndrome: insights from animal models. Cytogenet Genome Res. 2003;100(1-4):111-23. doi: 10.1159/000072845.
Reference Type
BACKGROUND
Banerjee A, Ifrim MF, Valdez AN, Raj N, Bassell GJ. Aberrant RNA translation in fragile X syndrome: From FMRP mechanisms to emerging therapeutic strategies. Brain Res. 2018 Aug 15;1693(Pt A):24-36. doi: 10.1016/j.brainres.2018.04.008. Epub 2018 Apr 10.
Reference Type
BACKGROUND
Grigsby J. The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology. Clin Neuropsychol. 2016 Aug;30(6):815-33. doi: 10.1080/13854046.2016.1184652. Epub 2016 Jun 29.
Reference Type
BACKGROUND
Wang LW, Berry-Kravis E, Hagerman RJ. Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics. 2010 Jul;7(3):264-74. doi: 10.1016/j.nurt.2010.05.005.
Reference Type
BACKGROUND
Hagerman RJ, Berry-Kravis E, Hazlett HC, Bailey DB Jr, Moine H, Kooy RF, Tassone F, Gantois I, Sonenberg N, Mandel JL, Hagerman PJ. Fragile X syndrome. Nat Rev Dis Primers. 2017 Sep 29;3:17065. doi: 10.1038/nrdp.2017.65.
Reference Type
BACKGROUND
Quartier A, Poquet H, Gilbert-Dussardier B, Rossi M, Casteleyn AS, Portes VD, Feger C, Nourisson E, Kuentz P, Redin C, Thevenon J, Mosca-Boidron AL, Callier P, Muller J, Lesca G, Huet F, Geoffroy V, El Chehadeh S, Jung M, Trojak B, Le Gras S, Lehalle D, Jost B, Maury S, Masurel A, Edery P, Thauvin-Robinet C, Gerard B, Mandel JL, Faivre L, Piton A. Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. Eur J Hum Genet. 2017 Apr;25(4):423-431. doi: 10.1038/ejhg.2016.204. Epub 2017 Feb 8.
Reference Type
BACKGROUND
Myrick LK, Nakamoto-Kinoshita M, Lindor NM, Kirmani S, Cheng X, Warren ST. Fragile X syndrome due to a missense mutation. Eur J Hum Genet. 2014 Oct;22(10):1185-9. doi: 10.1038/ejhg.2013.311. Epub 2014 Jan 22.
Reference Type
BACKGROUND
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
CTH-CTH120-EXP-01
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.
An Investigation of Psilocybin on Behavioural and Cognitive Symptoms of Adults With Fragile X Syndrome
NCT05832255
SUSPENDED
PHASE2
Riluzole in Fragile X Syndrome
NCT00895752
COMPLETED
PHASE4
Study of SPG601 in Adult Men With Fragile X Syndrome
NCT06413537
COMPLETED
PHASE2
Metformin in Children and Adults With Fragile X Syndrome
NCT03722290
COMPLETED
PHASE2
Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome
NCT01357239
COMPLETED
PHASE2
ERG/5-HTP in Fragile X Syndrome (FXS)
NCT05030129
COMPLETED
PHASE2
Efficacy, Safety and Tolerability of AFQ056 in Fragile X Patients
NCT00718341
COMPLETED
PHASE2
Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome
NCT00788073
COMPLETED
PHASE2
A Study to Assess the Tolerability of a Single Dose of STX107 in Adults With Fragile X Syndrome
NCT01325740
SUSPENDED
PHASE2
AFQ056 for Language Learning in Children With FXS
NCT02920892
COMPLETED
PHASE2
A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome
NCT05358886
COMPLETED
PHASE3
Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome
NCT01282268
COMPLETED
PHASE3
A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X Syndrome
NCT02126995
COMPLETED
PHASE2
Study of MRM-3379 in Male Participants With Fragile X Syndrome
NCT07209462
RECRUITING
PHASE2
Metformin in Patients With Fragile X
NCT04141163
UNKNOWN
PHASE1/PHASE2
Biomarker Testing and DNA Collection in Subjects Participating in Protocol 22001
NCT00823368
COMPLETED
Protein Synthesis in the Brain of Patients With Fragile X Syndrome
NCT00362843
COMPLETED
EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
NCT01711606
TERMINATED
Disease Progression in Women With X-linked Adrenoleukodystrophy
NCT06178120
RECRUITING
Determine Range of Tissue Frataxin Concentrations and Other Potential Biomarkers
NCT05028764
COMPLETED
Studies in Patients With Tuberous Sclerosis Complex
NCT03276195
COMPLETED
Neuroimaging GABA Physiology in Fragile X Syndrome
NCT04308954
TERMINATED
PHASE1
A Trial of Metformin in Individuals With Fragile X Syndrome
NCT03479476
COMPLETED
PHASE2/PHASE3
An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome
NCT01013480
TERMINATED
PHASE2