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Showing 1–24 of 557 matching trials from the live ClinicalTrials.gov search.
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Recruiting Phase 3 Interventional

Compassionate Use Study of Epi-ON Corneal Collagen Crosslinking Performed Using UVA Exposure on Eyes With Ectatic Corneal Diseases for Subjects With Down Syndrome

NCT07135167
View directory record Official record
Conditions
Down Syndrome (DS), Keratoconus, Pellucid Marginal Degeneration, Forme Fruste Keratoconus (FFK)
Interventions
Epi-ON corneal cross-linking (CXL)
Combination Product
Lead sponsor
Woolfson Eye Institute
Other
Eligibility
8 Years and older
Enrollment
225 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
12
States / cities
Atlanta, Georgia • Canton, Georgia • Cumming, Georgia + 8 more
Source: ClinicalTrials.gov public record
Updated Feb 1, 2026 · Synced Sep 4, 2026, 9:18 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders

NCT06274164
View directory record Official record
Conditions
RAI1 Gene 17P11.2 Deletion+Duplication
Interventions
Electroencephalography/Polysomnography (EEG/PSG), Skin Biopsy, Blood draw
Diagnostic Test · Procedure
Lead sponsor
Baylor College of Medicine
Other
Eligibility
1 Month to 80 Years
Enrollment
90 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2027
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 2, 2026 · Synced Sep 4, 2026, 9:18 PM EDT
Terminated Phase 3 Interventional Results available

Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome, Aged 11 To 17

NCT00754052
View directory record Official record
Conditions
Down Syndrome, Cognitive Dysfunction
Interventions
Aricept (donepezil hydrochloride), Placebo
Drug
Lead sponsor
Eisai Inc.
Industry
Eligibility
11 Years to 17 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008
U.S. locations
2
States / cities
San Antonio, Texas • Herndon, Virginia
Source: ClinicalTrials.gov public record
Updated Apr 22, 2018 · Synced Sep 4, 2026, 9:18 PM EDT
Completed Phase 2 Interventional

A Study of RO4917523 in Patients With Fragile X Syndrome

NCT01517698
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Placebo, RO4917523 0.5 mg, RO4917523 1.5 mg
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
14 Years to 50 Years
Enrollment
185 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2014
U.S. locations
20
States / cities
Phoenix, Arizona • Long Beach, California • Sacramento, California + 17 more
Source: ClinicalTrials.gov public record
Updated Jul 10, 2016 · Synced Sep 4, 2026, 9:18 PM EDT
Recruiting Phase 1Phase 2 Interventional

A Study to Assess the Effects of ACI-24.060 in Alzheimer's Disease and in Down Syndrome (ABATE Study)

NCT05462106
View directory record Official record
Conditions
Amyloid Plaque, Beta-Amyloid, DSAD, Prodromal Alzheimer's Disease, Alzheimer's Disease
Interventions
Placebo (Study Part 1a), ACI-24.060 at Dose A in Study Part 1a, ACI-24.060 at Dose B in Study Part 1a, ACI-24.060 at Dose C in Study Part 1a, ACI-24.060 with an additional adjuvant at Dose D in Study Part 1b, Placebo (Study Part 2), ACI-24.060 at Dose A in Study Part 2, ACI-24.060 at Dose B in Study Part 2, ACI-24.060 at Dose C in Study Part 2, Placebo (Study Part 1b), ACI-24.060 with an additional adjuvant at Dose E in Study Part 1b
Biological
Lead sponsor
AC Immune SA
Industry
Eligibility
35 Years to 85 Years
Enrollment
304 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2029
U.S. locations
13
States / cities
Phoenix, Arizona • Lady Lake, Florida • Orlando, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated Jul 9, 2026 · Synced Sep 4, 2026, 9:18 PM EDT
Completed Not applicable Interventional

Cognitive Remediation in 22q11DS

NCT01781923
View directory record Official record
Conditions
22q11.2 Deletion Syndrome, Velo-Cardio-Facial Syndrome
Interventions
Cognitive remediation program, Small group social skills training
Behavioral
Lead sponsor
Duke University
Other
Eligibility
11 Years to 17 Years
Enrollment
38 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2015
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Aug 9, 2015 · Synced Sep 4, 2026, 9:18 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Phenotypic Specific Communication Intervention for Children With Down Syndrome

NCT02158390
View directory record Official record
Conditions
Language Impairment, Down Syndrome
Interventions
Jasper-EMT with words and AAC
Behavioral
Lead sponsor
Vanderbilt University
Other
Eligibility
30 Months to 54 Months
Enrollment
78 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2018
U.S. locations
2
States / cities
Los Angeles, California • Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Jul 11, 2018 · Synced Sep 4, 2026, 9:18 PM EDT
Completed Not applicable Interventional

Nutritional Formulation for Angelman Syndrome

NCT03644693
View directory record Official record
Conditions
Angelman Syndrome
Interventions
Nutritional Formulation Containing Exogenous Ketones, Placebo Formulation
Dietary Supplement
Lead sponsor
University of Colorado, Denver
Other
Eligibility
4 Years to 11 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Aug 19, 2020 · Synced Sep 4, 2026, 9:18 PM EDT
Completed Not applicable Interventional

Life Skills Improved in Children With Down Syndrome After Using Assistive Technology

NCT05343468
View directory record Official record
Conditions
Down Syndrome, Adaptive Behavior, Quality of Life
Interventions
The MapHabit System
Device
Lead sponsor
MapHabit, Inc.
Industry
Eligibility
7 Years to 17 Years
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2021
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Feb 23, 2023 · Synced Sep 4, 2026, 9:18 PM EDT
Completed Phase 2 Interventional Results available

Randomized Controlled Study of Donepezil in Fragile X Syndrome

NCT01120626
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
donepezil, sugar pill
Drug
Lead sponsor
Stanford University
Other
Eligibility
12 Years to 29 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2013
U.S. locations
1
States / cities
Stanford, California
Source: ClinicalTrials.gov public record
Updated Mar 16, 2016 · Synced Sep 4, 2026, 9:18 PM EDT
Not listed Not applicable Interventional

Transcranial Photobiomodulation With Near-Infrared Light for Language in Individuals With Down Syndrome

NCT04668001
View directory record Official record
Conditions
Down Syndrome
Interventions
Near-Infrared Transcranial Photobiomodulation, Sham Transcranial Photobiomodulation
Device
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
16 Years to 35 Years
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
1
States / cities
Charlestown, Massachusetts
Source: ClinicalTrials.gov public record
Updated May 30, 2024 · Synced Sep 4, 2026, 9:18 PM EDT
Completed Phase 2 Interventional Results available

Revlimid in Patients With Acute Myelogenous Leukemia and Myelodysplastic Syndrome

NCT00360672
View directory record Official record
Conditions
Acute Myelogenous Leukemia, Myelodysplastic Syndrome
Interventions
Revlimid
Drug
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
18 Years and older
Enrollment
27 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2012
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Aug 13, 2013 · Synced Sep 4, 2026, 9:18 PM EDT
Completed Phase 2 Interventional Accepts healthy volunteers Results available

Understanding the Role of Gut Microbiota in Hyperphagia in Prader-Willi Syndrome

NCT05541003
View directory record Official record
Conditions
Prader-Willi Syndrome, Obesity
Interventions
NBT-NM108
Drug
Lead sponsor
Rutgers, The State University of New Jersey
Other
Eligibility
18 Years to 35 Years
Enrollment
12 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023
U.S. locations
1
States / cities
New Brunswick, New Jersey
Source: ClinicalTrials.gov public record
Updated Jul 15, 2024 · Synced Sep 4, 2026, 9:18 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Study of Genetic Risk Factors for Spina Bifida and Anencephaly

NCT00031122
View directory record Official record
Conditions
Spina Bifida, Anencephaly
Interventions
No Intervention
Other
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
1,100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2000 – 2012
U.S. locations
2
States / cities
Philadelphia, Pennsylvania • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Oct 4, 2010 · Synced Sep 4, 2026, 9:18 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Parent Supported Weight Reduction in Down Syndrome

NCT01256112
View directory record Official record
Conditions
Down Syndrome
Interventions
Parent Supported Behavioral Intervention, Nutrition/Activity Education (NAE)
Behavioral
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Eligibility
13 Years to 26 Years
Enrollment
21 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2006 – 2010
U.S. locations
1
States / cities
Waltham, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 17, 2017 · Synced Sep 4, 2026, 9:18 PM EDT
Recruiting No phase listed Observational

Patterns of Neurodevelopmental Disorders

NCT06213090
View directory record Official record
Conditions
Neurodevelopmental Disorders, Autism Spectrum Disorder, Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infection, Pediatric Acute-Onset Neuropsychiatric Syndrome, Down Syndrome, Epilepsy, Mitochondrial Encephalomyopathies, Cerebral Folate Deficiency
Interventions
Not listed
Lead sponsor
Richard Frye
Other
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2030
U.S. locations
1
States / cities
Phoenix, Arizona
Source: ClinicalTrials.gov public record
Updated Apr 15, 2026 · Synced Sep 4, 2026, 9:18 PM EDT
Completed Not applicable Interventional

Delivering Early Intervention to Children With Down Syndrome

NCT03935620
View directory record Official record
Conditions
Down Syndrome
Interventions
Enhanced Milieu teaching
Behavioral
Lead sponsor
Oregon Health and Science University
Other
Eligibility
18 Months to 36 Months
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Mar 1, 2022 · Synced Sep 4, 2026, 9:18 PM EDT
Terminated Phase 1 Interventional

Initiating Transdermal Estradiol Therapy in Turner's Syndrome

NCT00870220
View directory record Official record
Conditions
Turner's Syndrome
Interventions
Norditropin, Menostar 14mcg patch, Vivelle dot 25mcg patch
Drug
Lead sponsor
University of Chicago
Other
Eligibility
138 Months to 13 Years · Female only
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
3
States / cities
Chicago, Illinois • Baltimore, Maryland • Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Mar 10, 2014 · Synced Sep 4, 2026, 9:18 PM 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 30, 2013 · Synced Sep 4, 2026, 9:18 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 Sep 4, 2026, 9:18 PM EDT
Completed Phase 1 Interventional

Thymus Transplantation With Immunosuppression

NCT00579709
View directory record Official record
Conditions
DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Anomaly, Complete DiGeorge Syndrome
Interventions
Thymus Tissue for Transplantation
Biological
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2019
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Apr 3, 2022 · Synced Sep 4, 2026, 9:18 PM EDT
Completed Phase 2 Interventional

Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome

NCT00001221
View directory record Official record
Conditions
Gonadal Dysgenesis, Turner's Syndrome
Interventions
Growth Hormone (Humatrope)
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Female only
Enrollment
160 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1987 – 2003
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Sep 4, 2026, 9:18 PM EDT
Completed Phase 2 Interventional Results available

Early Administration of ATG Followed by Cyclophosphamide, Busulfan and Fludarabine Before a Donor Stem Cell Transplant in Patients With Hematological Cancer

NCT00787761
View directory record Official record
Conditions
Myeloproliferative Disorders, Kidney Cancer, Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes, Myelodysplastic/Myeloproliferative Diseases
Interventions
anti-thymocyte globulin, busulfan, cyclophosphamide, fludarabine phosphate, methotrexate, tacrolimus, nonmyeloablative allogeneic HSCT
Biological · Drug · Procedure
Lead sponsor
Northside Hospital, Inc.
Other
Eligibility
Up to 75 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2012
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Sep 30, 2012 · Synced Sep 4, 2026, 9:18 PM EDT
Completed Phase 2 Interventional Results available

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

NCT01357239
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
AFQ056, Placebo
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
12 Years to 17 Years
Enrollment
139 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
8
States / cities
Sacramento, California • Decatur, Georgia • Chicago, Illinois + 5 more
Source: ClinicalTrials.gov public record
Updated May 11, 2015 · Synced Sep 4, 2026, 9:18 PM EDT