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ClinicalTrials.gov public records Last synced Sep 30, 2026, 2:08 AM EDT

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Showing 25–48 of 155 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Sex Chromosome Abnormalities Clear all
Completed Not applicable Interventional Results available

Effect of Growth Hormone on Early Brain Development in Girls With Turner Syndrome

NCT01367834
View directory record Official record
Conditions
Turner Syndrome
Interventions
somatotropin
Drug
Lead sponsor
Rebecca Knickmeyer Santelli, PhD
Other
Eligibility
11 Months to 13 Months · Female only
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2014
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 24, 2017 · Synced Sep 30, 2026, 2:08 AM EDT
Terminated Phase 3 Interventional

An Open Label Extension Study in Subjects With Fragile X Syndrome

NCT01555333
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
arbaclofen
Drug
Lead sponsor
Seaside Therapeutics, Inc.
Industry
Eligibility
5 Years to 50 Years
Enrollment
357 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2013
U.S. locations
23
States / cities
Phoenix, Arizona • Long Beach, California • Sacramento, California + 20 more
Source: ClinicalTrials.gov public record
Updated Jul 31, 2013 · Synced Sep 30, 2026, 2:08 AM EDT
Completed No phase listed Observational

Biomarker and DNA Collection in Subjects Participating in Protocol 22003

NCT00892580
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
STX209
Drug
Lead sponsor
Seaside Therapeutics, Inc.
Industry
Eligibility
6 Years to 17 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2009
U.S. locations
8
States / cities
Phoenix, Arizona • Los Angeles, California • New Haven, Connecticut + 5 more
Source: ClinicalTrials.gov public record
Updated Jul 31, 2013 · Synced Sep 30, 2026, 2:08 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Examining Social, Emotional, and Cognitive Functioning in People With Fragile X and Down Syndromes

NCT00879515
View directory record Official record
Conditions
Anxiety Disorders, Child Developmental Disorders, Pervasive
Interventions
Not listed
Lead sponsor
University of California, Davis
Other
Eligibility
5 Years to 25 Years
Enrollment
511 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2010
U.S. locations
1
States / cities
Sacramento, California
Source: ClinicalTrials.gov public record
Updated May 30, 2017 · Synced Sep 30, 2026, 2:08 AM EDT
Recruiting No phase listed Observational

Natural History of Noncirrhotic Portal Hypertension

NCT02417740
View directory record Official record
Conditions
Cystic Fibrosis, Immunologic Deficiency Syndrome, Turner Syndrome, Congenital Hepatic Fibrosis, Idiopathic Non-Cirrhotic Portal Hypertension
Interventions
Not listed
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Eligibility
12 Years to 100 Years
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2029
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 22, 2026 · Synced Sep 30, 2026, 2:08 AM 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 10, 2023 · Synced Sep 30, 2026, 2:08 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Dry Eye in Women With Turner Syndrome and Women With Premature Ovarian Failure

NCT00471731
View directory record Official record
Conditions
Turner Syndrome, Ovarian Failure, Premature, Sex Chromosome Aberrations, Menopause, Perimenopause
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
18 Years and older · Female only
Enrollment
72 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2007 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 14, 2018 · Synced Sep 30, 2026, 2:08 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Turner Syndrome: Genotype and Phenotype

NCT00006334
View directory record Official record
Conditions
Turner's Syndrome
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
10 Years and older
Enrollment
1,017 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2000 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 6, 2017 · Synced Sep 30, 2026, 2:08 AM 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 Aug 14, 2026 · Synced Sep 30, 2026, 2:08 AM EDT
Completed Phase 2Phase 3 Interventional

A Trial of Metformin in Individuals With Fragile X Syndrome

NCT03479476
View directory record Official record
Conditions
Fragile X Syndrome, Fragile X Mental Retardation Syndrome, Mental Retardation, X Linked, Genetic Diseases, X-Linked, Trinucleotide Repeat Expansion, Fra(X) Syndrome, Intellectual Disability, FXS, Neurobehavioral Manifestations, Sex Chromosome Disorders
Interventions
Placebo Medication, Metformin
Drug
Lead sponsor
University of California, Davis
Other
Eligibility
6 Years to 25 Years
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2024
U.S. locations
1
States / cities
Sacramento, California
Source: ClinicalTrials.gov public record
Updated Jan 17, 2025 · Synced Sep 30, 2026, 2:08 AM EDT
Completed No phase listed Observational

Protein Synthesis in the Brain of Patients With Fragile X Syndrome

NCT00362843
View directory record Official record
Conditions
Fragile X Syndrome, Healthy Volunteers
Interventions
[15-O]water
Drug
Lead sponsor
National Institute of Mental Health (NIMH)
NIH
Eligibility
18 Years to 24 Years · Male only
Enrollment
147 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2020
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 8, 2024 · Synced Sep 30, 2026, 2:08 AM 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 30, 2020 · Synced Sep 30, 2026, 2:08 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, 2:08 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, 2:08 AM EDT
Completed Phase 2 Interventional Results available

A Prospective Open-label Study of Aripiprazole in Fragile X Syndrome

NCT00420459
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Aripiprazole
Drug
Lead sponsor
Indiana University
Other
Eligibility
5 Years to 35 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2010
U.S. locations
1
States / cities
Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Apr 18, 2017 · Synced Sep 30, 2026, 2:08 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, 2:08 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, 2:08 AM EDT
Not yet recruiting Phase 2 Interventional

Inhibition of Aggressive Behavior in Participants With Fragile X Syndrome

NCT07328529
View directory record Official record
Conditions
Aggressive Behavior in Fragile X Syndome
Interventions
SRX246, Placebo
Drug
Lead sponsor
Azevan Pharmaceuticals
Industry
Eligibility
18 Years to 45 Years · Male only
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
3
States / cities
Sacramento, California • Chicago, Illinois • Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jan 9, 2026 · Synced Sep 30, 2026, 2:08 AM EDT
Recruiting Phase 1Phase 2 Interventional Accepts healthy volunteers

A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment

NCT06239116
View directory record Official record
Conditions
Hypothalamic Obesity, Prader-Willi Syndrome, PWS
Interventions
Part A: RM-718 or placebo (matched to specific RM-718 dose cohort), Part B: RM-718 or placebo (matched to specific RM-718 dose cohort), Part C: RM-718, Part D: RM-718
Drug
Lead sponsor
Rhythm Pharmaceuticals, Inc.
Industry
Eligibility
12 Years to 65 Years
Enrollment
150 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2028
U.S. locations
7
States / cities
Birmingham, Alabama • Chicago, Illinois • Boston, Massachusetts + 3 more
Source: ClinicalTrials.gov public record
Updated Dec 22, 2025 · Synced Sep 30, 2026, 2:08 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, 2:08 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Whole Blood Specimen Collection From Pregnant Subjects

NCT02430584
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Perinatal Infections
Interventions
Observational - no intervention
Other
Lead sponsor
Progenity, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2021
U.S. locations
1
States / cities
Chattanooga, Tennessee
Source: ClinicalTrials.gov public record
Updated Sep 17, 2020 · Synced Sep 30, 2026, 2:08 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, 2:08 AM EDT
Completed Phase 1Phase 2 Interventional

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
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
NPL-2009
Drug
Lead sponsor
Neuropharm
Industry
Eligibility
18 Years to 45 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008
U.S. locations
2
States / cities
Sacramento, California • Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Apr 27, 2012 · Synced Sep 30, 2026, 2:08 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

High Risk Multiple Gestation Study

NCT02278874
View directory record Official record
Conditions
Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
Interventions
Not listed
Lead sponsor
Natera, Inc.
Industry
Eligibility
18 Years and older
Enrollment
99 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2019
U.S. locations
4
States / cities
Boston, Massachusetts • Glen Cove, New York • New York, New York + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 13, 2019 · Synced Sep 30, 2026, 2:08 AM EDT