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Showing 1–24 of 154 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Sex Chromosome Disorders Clear all
Active, not recruiting Phase 2 Interventional

Evaluating the Neurophysiologic and Clinical Effects of Single Dose Drug Challenge

NCT05418049
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Baclofen, Memantine, Roflumilast, Placebo
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
18 Years to 45 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Dec 22, 2025 · Synced Jul 21, 2026, 7:30 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Speech-in-noise Perception in Autism and Fragile X

NCT06088589
View directory record Official record
Conditions
Autism Spectrum Disorder, Fragile X Syndrome
Interventions
Mismatch negativity
Behavioral
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
15 Years to 35 Years
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2026
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Mar 18, 2026 · Synced Jul 21, 2026, 7:30 PM EDT
Completed No phase listed Observational

Pediatric Patients With Metabolic or Other Genetic Disorders

NCT02769949
View directory record Official record
Conditions
Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome, Developmental Delay
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
1 Year to 99 Years
Enrollment
96 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2025
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 1, 2025 · Synced Jul 21, 2026, 7:30 PM EDT
Terminated Phase 2Phase 3 Interventional Results available

Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label)

NCT01433354
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
AFQ056
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
12 Years to 18 Years
Enrollment
119 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
7
States / cities
Sacramento, California • Decatur, Georgia • Chicago, Illinois + 4 more
Source: ClinicalTrials.gov public record
Updated Mar 23, 2016 · Synced Jul 21, 2026, 7:30 PM EDT
Completed No phase listed Observational

Adaptation Among Adolescents and Adults With Klinefelter Syndrome

NCT00896272
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
14 Years to 80 Years · Male only
Enrollment
302 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2015
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 16, 2019 · Synced Jul 21, 2026, 7:30 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Non-Invasive Determination of Fetal Chromosome Abnormalities

NCT00891852
View directory record Official record
Conditions
Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Klinefelter Syndrome (47, XXY), and Other Chromosome, Abnormalities.
Interventions
Not listed
Lead sponsor
Lenetix Medical Screening Laboratory
Industry
Eligibility
18 Years and older · Female only
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009
U.S. locations
7
States / cities
Rockville, Maryland • Moristown, New Jersey • Mineola, New York + 3 more
Source: ClinicalTrials.gov public record
Updated Apr 30, 2009 · Synced Jul 21, 2026, 7:30 PM EDT
Completed Phase 2 Interventional Results available

Ganaxolone Treatment in Children With Fragile X Syndrome

NCT01725152
View directory record Official record
Conditions
Fragile x Syndrome
Interventions
Ganaxolone, Placebo
Drug
Lead sponsor
Marinus Pharmaceuticals
Industry
Eligibility
6 Years to 17 Years
Enrollment
59 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
1
States / cities
Sacramento, California
Source: ClinicalTrials.gov public record
Updated Apr 9, 2023 · Synced Jul 21, 2026, 7:30 PM EDT
Completed No phase listed Observational

The Clinical Study of Sex Chromosome Variants

NCT01661010
View directory record Official record
Conditions
Male Factor Infertility, Female Factor Infertility
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
112 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 10, 2026 · Synced Jul 21, 2026, 7:30 PM EDT
Not listed No phase listed Observational

Turner Syndrome Prenatal Diagnosis Study

NCT01668251
View directory record Official record
Conditions
Turner Syndrome
Interventions
Not listed
Lead sponsor
Seattle Children's Hospital
Other
Eligibility
Up to 3 Months · Female only
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2017
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Aug 19, 2012 · Synced Jul 21, 2026, 7:30 PM EDT
Completed Phase 2 Interventional

A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome

NCT01894958
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
NNZ-2566, Placebo
Drug
Lead sponsor
Neuren Pharmaceuticals Limited
Industry
Eligibility
12 Years to 45 Years · Male only
Enrollment
72 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
17
States / cities
Sacramento, California • Denver, Colorado • Washington D.C., District of Columbia + 14 more
Source: ClinicalTrials.gov public record
Updated Feb 4, 2018 · Synced Jul 21, 2026, 7:30 PM EDT
Completed Not applicable Interventional

Treatment of Disruptive Behaviors in Fragile X Syndrome

NCT03510156
View directory record Official record
Conditions
Fragile X Syndrome, Disruptive Behavior
Interventions
Behavior analytic treatment
Behavioral
Lead sponsor
Stanford University
Other
Eligibility
3 Years to 10 Years · Male only
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2022
U.S. locations
1
States / cities
Stanford, California
Source: ClinicalTrials.gov public record
Updated May 3, 2022 · Synced Jul 21, 2026, 7:30 PM EDT
Enrolling by invitation Phase 1 Interventional

Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities

NCT05301361
View directory record Official record
Conditions
Intellectual Disability, Fragile X Syndrome, Down Syndrome, Attention Deficit Hyperactivity Disorder
Interventions
Methylphenidate Oral Solution
Drug
Lead sponsor
University of California, Davis
Other
Eligibility
6 Years to 24 Years
Enrollment
68 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
3
States / cities
Sacramento, California • Chicago, Illinois • Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Dec 14, 2025 · Synced Jul 21, 2026, 7:30 PM EDT
Completed Phase 3 Interventional

Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome

NCT01325220
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
arbaclofen, Placebo
Drug
Lead sponsor
Seaside Therapeutics, Inc.
Industry
Eligibility
5 Years to 11 Years
Enrollment
172 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2011
U.S. locations
28
States / cities
Phoenix, Arizona • Long Beach, California • Sacramento, California + 24 more
Source: ClinicalTrials.gov public record
Updated Jul 30, 2013 · Synced Jul 21, 2026, 7:30 PM EDT
Completed Phase 2 Interventional

Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome

NCT01253629
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
AFQ056, Placebo
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years to 45 Years
Enrollment
175 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
12
States / cities
Phoenix, Arizona • Sacramento, California • Decatur, Georgia + 9 more
Source: ClinicalTrials.gov public record
Updated Dec 22, 2020 · Synced Jul 21, 2026, 7:30 PM EDT
Completed Phase 4 Interventional Results available

Riluzole in Fragile X Syndrome

NCT00895752
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Riluzole
Drug
Lead sponsor
Indiana University
Other
Eligibility
18 Years and older
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2010
U.S. locations
1
States / cities
Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Apr 17, 2017 · Synced Jul 21, 2026, 7:30 PM EDT
Recruiting No phase listed Observational

Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy

NCT04948658
View directory record Official record
Conditions
Turner Syndrome, Post-menarcheal Adolescents, Ovarian Disfunction, Galactosemia, Variations in Sex Characteristics, Differences in Sex Development
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
2 Years to 35 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 24, 2026 · Synced Jul 21, 2026, 7:30 PM EDT
Completed Phase 2Phase 3 Interventional

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

NCT05163808
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
zatolmilast, Placebo
Drug
Lead sponsor
Tetra Discovery Partners
Industry
Eligibility
9 Years to 18 Years · Male only
Enrollment
163 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
17
States / cities
Irvine, California • Orange, California • Sacramento, California + 14 more
Source: ClinicalTrials.gov public record
Updated Feb 3, 2026 · Synced Jul 21, 2026, 7:30 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Study of Acamprosate in Fragile x Syndrome

NCT01911455
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
acamprosate, Placebo
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
5 Years to 23 Years
Enrollment
46 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2018
U.S. locations
2
States / cities
Chicago, Illinois • Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Feb 2, 2021 · Synced Jul 21, 2026, 7:30 PM EDT
Terminated Phase 2 Interventional

An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome

NCT01013480
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Arbaclofen
Drug
Lead sponsor
Seaside Therapeutics, Inc.
Industry
Eligibility
6 Years to 40 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2012
U.S. locations
9
States / cities
Los Angeles, California • Sacramento, California • Chicago, Illinois + 6 more
Source: ClinicalTrials.gov public record
Updated Dec 19, 2012 · Synced Jul 21, 2026, 7:30 PM EDT
Completed Phase 2 Interventional Results available

Acamprosate in Youth With Fragile X Syndrome

NCT01300923
View directory record Official record
Conditions
Fragile X Syndrome, Autism Spectrum Disorders
Interventions
Acamprosate
Drug
Lead sponsor
Indiana University
Other
Eligibility
5 Years to 17 Years
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
1
States / cities
Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Jul 29, 2019 · Synced Jul 21, 2026, 7:30 PM EDT
Recruiting Phase 3 Interventional

Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders

NCT07221851
View directory record Official record
Conditions
Turner Syndrome, Short Stature Homeobox Gene Mutation, Idiopathic Short Stature, Small for Gestational Age at Delivery
Interventions
Lonapegsomatropin [SKYTROFA®], Somatropin Pen Injector
Combination Product
Lead sponsor
Ascendis Pharma A/S
Industry
Eligibility
2 Years to 17 Years
Enrollment
186 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2029
U.S. locations
17
States / cities
Palo Alto, California • Sacramento, California • Aurora, Colorado + 13 more
Source: ClinicalTrials.gov public record
Updated Jul 9, 2026 · Synced Jul 21, 2026, 7:30 PM EDT
Completed Phase 2 Interventional Results available

Androgen Effect on Klinefelter Syndrome Motor Outcome

NCT00348946
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
androgen oxandrolone, placebo
Drug · Other
Lead sponsor
Thomas Jefferson University
Other
Eligibility
4 Years to 12 Years · Male only
Enrollment
93 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2017
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 7, 2021 · Synced Jul 21, 2026, 7:30 PM EDT
Completed No phase listed Observational

Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA

NCT02109770
View directory record Official record
Conditions
Microdeletion Syndromes, Trisomy 21, Trisomy 18, Trisomy 13, Sex Chromosome Abnormalities
Interventions
Not listed
Lead sponsor
Natera, Inc.
Industry
Eligibility
Not listed
Enrollment
216 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2019
U.S. locations
2
States / cities
San Carlos, California • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 25, 2019 · Synced Jul 21, 2026, 7:30 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood

NCT01852708
View directory record Official record
Conditions
Trisomy 21, Trisomy 18, Trisomy 13, Sex Chromosome Abnormalities, Microdeletion Syndromes
Interventions
Not listed
Lead sponsor
Natera, Inc.
Industry
Eligibility
18 Years and older
Enrollment
1,059 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2020
U.S. locations
7
States / cities
San Carlos, California • San Gabriel, California • Washington D.C., District of Columbia + 4 more
Source: ClinicalTrials.gov public record
Updated Dec 29, 2020 · Synced Jul 21, 2026, 7:30 PM EDT