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ClinicalTrials.gov public records Last synced Sep 30, 2026, 11:20 AM EDT

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Showing 97–120 of 155 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Sex Chromosome Abnormalities Clear all
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 17, 2019 · Synced Sep 30, 2026, 11:20 AM 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 15, 2025 · Synced Sep 30, 2026, 11:20 AM EDT
Completed Phase 3 Interventional

A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome

NCT05358886
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
BPN14770/ zatolmilast, Placebo
Drug
Lead sponsor
Tetra Discovery Partners
Industry
Eligibility
18 Years to 45 Years · Male only
Enrollment
171 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 Jul 10, 2026 · Synced Sep 30, 2026, 11:20 AM EDT
Completed Phase 4 Interventional

TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY

NCT03325647
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution, Placebo injectable saline
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
31 Days to 90 Days · Male only
Enrollment
72 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated May 6, 2022 · Synced Sep 30, 2026, 11:20 AM EDT
Active, not recruiting Phase 3 Interventional

A Research Study to Compare Somapacitan Once a Week With Norditropin® Once a Day in Children Who Need Help to Grow

NCT05330325
View directory record Official record
Conditions
SGA, Turner Syndrome, Noonan Syndrome, ISS
Interventions
Somapacitan, Norditropin®
Drug
Lead sponsor
Novo Nordisk A/S
Industry
Eligibility
2 Years to 10 Years
Enrollment
412 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
35
States / cities
Birmingham, Alabama • Los Angeles, California • Sacramento, California + 32 more
Source: ClinicalTrials.gov public record
Updated Jun 12, 2026 · Synced Sep 30, 2026, 11:20 AM EDT
Terminated Phase 2 Interventional Results available

Long-term, Safety, Tolerability and Efficacy Study of AFQ056 in Adult Patients With Fragile X Syndrome

NCT01348087
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
AFQ056
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
148 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
10
States / cities
Phoenix, Arizona • Sacramento, California • Decatur, Georgia + 7 more
Source: ClinicalTrials.gov public record
Updated May 25, 2016 · Synced Sep 30, 2026, 11:20 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Gonadal Tissue Cryopreservation for Fertility Preservation in Children With a Disorder of Sex Development

NCT06692049
View directory record Official record
Conditions
DSD, 46,XY, DSD, Ovotesticular, DSD, Sex Chromosome, Disorders of Sex Development, Disorder of Sex Development, 46,XY, Disorder of Sex Development, 46,Xy, Cbx2-Related
Interventions
Gonadectomy
Procedure
Lead sponsor
Erin Rowell
Other
Eligibility
Up to 30 Years
Enrollment
250 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2035
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Sep 3, 2026 · Synced Sep 30, 2026, 11:20 AM 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 19, 2026 · Synced Sep 30, 2026, 11:20 AM EDT
Completed No phase listed Observational

Biomarker Testing and DNA Collection in Subjects Participating in Protocol 22001

NCT00823368
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
STX209
Drug
Lead sponsor
Seaside Therapeutics, Inc.
Industry
Eligibility
6 Years to 40 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2009
U.S. locations
11
States / cities
Phoenix, Arizona • Los Angeles, California • Sacramento, California + 8 more
Source: ClinicalTrials.gov public record
Updated Jul 31, 2013 · Synced Sep 30, 2026, 11:20 AM 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 20, 2012 · Synced Sep 30, 2026, 11:20 AM EDT
Completed Not applicable Interventional Results available

Trial of Minocycline to Treat Children With Fragile X Syndrome

NCT01053156
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
minocycline hydrochloride, Placebo
Drug
Lead sponsor
University of California, Davis
Other
Eligibility
42 Months to 16 Years
Enrollment
66 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
1
States / cities
Sacramento, California
Source: ClinicalTrials.gov public record
Updated May 30, 2017 · Synced Sep 30, 2026, 11:20 AM EDT
Recruiting Phase 4 Interventional

Tirzepatide in PWS, HO and GNSO

NCT06901245
View directory record Official record
Conditions
Prader-Willi Syndrome, Hypothalamic Obesity, Obesity/Therapy
Interventions
Tirzepatide
Drug
Lead sponsor
Grace Kim
Other
Eligibility
18 Years to 26 Years
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
3
States / cities
Saint Paul, Minnesota • Nashville, Tennessee • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Sep 16, 2025 · Synced Sep 30, 2026, 11:20 AM EDT
Recruiting No phase listed Observational

Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders

NCT07493096
View directory record Official record
Conditions
Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD), Neurodevelopmental Disorders and Developmental Abnormalities, Developmental Delay (Disorder), Cerebral Palsy (CP), Cerebral Palsy Hemiparetic Cerebral Palsy Spasticity Gait Disorders, Neurologic Postural Balance Impairment, Cerebral Palsy Infantile, Cerebral Palsy Spastic Hemiplegic, Cerebral Palsy, Dyskinetic, Autism Spectrum Disorder, Autism Spectrum Disorder (ASD, Hypoxic Ischemic Encephalopathy, Hypoxic Ischemic Encephalopathy (HIE), Traumatic Brain Injury (TBI), Sensory Processing Disorder, Chromosomal Abnormalities, Genetic Disorders, Down Syndrome (Trisomy 21), Fragile X Syndrome (FXS), RETT Syndrome With Proven MECP2 Mutation, Williams Syndrome, 22q11.2 Deletion Syndrome, Sensorimotor Integration
Interventions
Not listed
Lead sponsor
Healing Hope International
Other
Eligibility
4 Years to 12 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2036
U.S. locations
1
States / cities
The Woodlands, Texas
Source: ClinicalTrials.gov public record
Updated Mar 25, 2026 · Synced Sep 30, 2026, 11:20 AM EDT
Recruiting Phase 2 Interventional

Study of MRM-3379 in Male Participants With Fragile X Syndrome (BLOOM)

NCT07209462
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Low dose of MRM-3379, Middle Dose of MRM-3379, High dose of MRM-3379, Placebo, Low dose of MRM-3379 Open-Label
Drug
Lead sponsor
Mirum Pharmaceuticals, Inc.
Industry
Eligibility
13 Years to 45 Years · Male only
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
15
States / cities
Phoenix, Arizona • Irvine, California • Orange, California + 12 more
Source: ClinicalTrials.gov public record
Updated Sep 29, 2026 · Synced Sep 30, 2026, 11:20 AM 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 11, 2026 · Synced Sep 30, 2026, 11:20 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Parents as the Primary Sexuality Educators for Their Young Adults With Down Syndrome

NCT03135236
View directory record Official record
Conditions
Down Syndrome, Intellectual Disability, Sexuality, Parent-Child Relations
Interventions
Parent training
Behavioral
Lead sponsor
Wake Forest University Health Sciences
Other
Eligibility
Not listed
Enrollment
13 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2018
U.S. locations
1
States / cities
Park Ridge, Illinois
Source: ClinicalTrials.gov public record
Updated Oct 4, 2024 · Synced Sep 30, 2026, 11:20 AM 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 31, 2013 · Synced Sep 30, 2026, 11:20 AM EDT
Completed No phase listed Observational

Comparison of Aneuploidy Risk Evaluations

NCT01663350
View directory record Official record
Conditions
Pregnancy, Down Syndrome, Edwards Syndrome, Patau Syndrome, Turners Syndrome
Interventions
Not listed
Lead sponsor
Verinata Health, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
3,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
26
States / cities
San Diego, California • Atlanta, Georgia • Chicago, Illinois + 22 more
Source: ClinicalTrials.gov public record
Updated Jul 16, 2013 · Synced Sep 30, 2026, 11:20 AM 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 Aug 31, 2026 · Synced Sep 30, 2026, 11:20 AM 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 20, 2012 · Synced Sep 30, 2026, 11:20 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Generating Advancements Through Longitudinal Analysis in X and Y Variations (GALAXY)

NCT06373861
View directory record Official record
Conditions
Sex Chromosome Aneuploidy
Interventions
no intervention
Other
Lead sponsor
University of Colorado, Denver
Other
Eligibility
0 Days to 100 Years
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2037
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Apr 18, 2024 · Synced Sep 30, 2026, 11:20 AM 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 4, 2022 · Synced Sep 30, 2026, 11:20 AM 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 30, 2019 · Synced Sep 30, 2026, 11:20 AM EDT
Completed Phase 1 Interventional

An Open-Label Trial of Donepezil in Fragile X Syndrome

NCT00220584
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
donepezil
Drug
Lead sponsor
Stanford University
Other
Eligibility
14 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2009
U.S. locations
1
States / cities
Stanford, California
Source: ClinicalTrials.gov public record
Updated Dec 13, 2012 · Synced Sep 30, 2026, 11:20 AM EDT