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Showing 1–24 of 631 matching trials from the live ClinicalTrials.gov search.
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Active, not recruiting Phase 2 Interventional

A Study of Setmelanotide in Patients With Prader-Willi Syndrome

NCT06772597
View directory record Official record
Conditions
Prader-Willi Syndrome, Obesity, Hyperphagia
Interventions
Setmelanotide
Drug
Lead sponsor
Rhythm Pharmaceuticals, Inc.
Industry
Eligibility
6 Years to 65 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Feb 11, 2026 · Synced Sep 2, 2026, 2:58 AM EDT
Terminated No phase listed Observational

Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies

NCT02226315
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Turner Syndrome
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated Sep 16, 2015 · Synced Sep 2, 2026, 2:58 AM EDT
Completed No phase listed Observational

Prevalence of Spasticity in Adults With Mental Retardation Living in the Community

NCT00282191
View directory record Official record
Conditions
Mental Retardation, Spasticity
Interventions
Not listed
Lead sponsor
Vanderbilt University
Other
Eligibility
18 Years and older
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2007
U.S. locations
1
States / cities
Davidson County, Tennessee
Source: ClinicalTrials.gov public record
Updated Mar 27, 2008 · Synced Sep 2, 2026, 2:58 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Steps to Effective Problem Solving in Group Homes

NCT02855008
View directory record Official record
Conditions
Problem Behavior
Interventions
STEPS, Food for Life
Behavioral
Lead sponsor
Rush University Medical Center
Other
Eligibility
18 Years and older
Enrollment
211 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2022
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Nov 30, 2022 · Synced Sep 2, 2026, 2:58 AM EDT
Not listed Not applicable Interventional

Word Learning in Children With Autism

NCT03419611
View directory record Official record
Conditions
Autistic Disorders Spectrum
Interventions
Multi-Modal, Treatment as Usual, High Intensity Multi-Modal
Behavioral · Other
Lead sponsor
University of Kansas
Other
Eligibility
5 Years to 10 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2021
U.S. locations
1
States / cities
Lawrence, Kansas
Source: ClinicalTrials.gov public record
Updated Apr 28, 2019 · Synced Sep 2, 2026, 2:58 AM EDT
Recruiting Phase 2 Interventional

A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease

NCT06092034
View directory record Official record
Conditions
Danon Disease
Interventions
RP-A501
Genetic
Lead sponsor
Rocket Pharmaceuticals Inc.
Industry
Eligibility
8 Years and older · Male only
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2032
U.S. locations
3
States / cities
La Jolla, California • Boston, Massachusetts • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 3, 2026 · Synced Sep 2, 2026, 2:58 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 16, 2025 · Synced Sep 2, 2026, 2:58 AM EDT
Completed Phase 3 Interventional Results available

Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome (LAVENDER™)

NCT04181723
View directory record Official record
Conditions
Rett Syndrome
Interventions
Trofinetide, Placebo
Drug · Other
Lead sponsor
ACADIA Pharmaceuticals Inc.
Industry
Eligibility
5 Years to 20 Years · Female only
Enrollment
187 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
21
States / cities
Birmingham, Alabama • Phoenix, Arizona • La Jolla, California + 18 more
Source: ClinicalTrials.gov public record
Updated Apr 7, 2024 · Synced Sep 2, 2026, 2:58 AM EDT
Completed No phase listed Observational Results available

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

NCT02699190
View directory record Official record
Conditions
Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, ALD (Adrenoleukodystrophy), X-linked Adrenoleukodystrophy, X-ALD, Adrenomyeloneuropathy, Aicardi Goutieres Syndrome, AGS, Alexander Disease, Alexanders Leukodystrophy, AxD, ADLD, Canavan Disease, CTX, Cerebrotendinous Xanthomatoses, Krabbe Disease, GALC Deficiency, Globoid Leukodystrophy, TUBB4A-Related Leukodystrophy, H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum, HBSL, HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity, LBSL, Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, ALSP, CSF1R Gene Mutation, HCC - Hypomyelination and Congenital Cataract, MLC1, Megalencephalic Leukoencephalopathy With Subcortical Cysts 1, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication | Blood or Tissue | Mutations, Pelizaeus-Merzbacher-Like Disease, 1, Peroxisomal Biogenesis Disorder, Zellweger Syndrome, Refsum Disease, Salla Disease, Sialic Storage Disease, Sjögren, Sjogren-Larsson Syndrome, Van Der Knapp Disease, Vanishing White Matter Disease, Charcot-Marie-Tooth, CMT, Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, Allan-Herndon-Dudley Syndrome, Cadasil, Cockayne Syndrome, Multiple Sulfatase Deficiency, Gangliosidoses, GM2 Gangliosidosis, BPAN, Labrune Syndrome, LCC, Mucopolysaccharidoses, TBCK-Related Intellectual Disability Syndrome
Interventions
Not listed
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
Up to 18 Years
Enrollment
236 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Nov 9, 2025 · Synced Sep 2, 2026, 2:58 AM EDT
Completed No phase listed Observational

Characteristics of Prader-Willi Syndrome and Early-onset Morbid Obesity

NCT00375089
View directory record Official record
Conditions
Prader-Willi Syndrome, Obesity
Interventions
Group 1, Group 2
Other
Lead sponsor
University of Florida
Other
Eligibility
Up to 60 Years
Enrollment
392 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2014
U.S. locations
4
States / cities
Orange, California • Gainesville, Florida • Kansas City, Kansas + 1 more
Source: ClinicalTrials.gov public record
Updated Sep 21, 2014 · Synced Sep 2, 2026, 2:58 AM EDT
Completed Phase 3 Interventional

Clinical Study of Cannabidiol in Children, Adolescents, and Young Adults With Fragile X Syndrome

NCT04977986
View directory record Official record
Conditions
Fragile X Syndrome, Fragile X Syndrome (FXS)
Interventions
ZYN002, Placebo
Drug
Lead sponsor
Harmony Biosciences Management, Inc.
Industry
Eligibility
3 Years to 29 Years
Enrollment
257 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
18
States / cities
Phoenix, Arizona • Culver City, California • Irvine, California + 15 more
Source: ClinicalTrials.gov public record
Updated Aug 31, 2026 · Synced Sep 2, 2026, 2:58 AM EDT
Completed Phase 4 Interventional Results available

Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome

NCT01112683
View directory record Official record
Conditions
Down Syndrome
Interventions
Memantine, Placebo
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
18 Years to 32 Years
Enrollment
42 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2011
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Jan 31, 2013 · Synced Sep 2, 2026, 2:58 AM EDT
Completed Phase 1 Interventional

A Pharmacokinetic and Safety Study of CSTI-500 in Subjects With Prader-Willi Syndrome

NCT05504395
View directory record Official record
Conditions
Prader-Willi Syndrome
Interventions
CSTI-500
Drug
Lead sponsor
ConSynance Therapeutics
Industry
Eligibility
13 Years to 50 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Aug 8, 2023 · Synced Sep 2, 2026, 2:58 AM EDT
Completed No phase listed Observational

Longitudinal Studies of Brain Structure and Function in MPS Disorders

NCT01870375
View directory record Official record
Conditions
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI, Mucopolysaccharidosis Type IV, Mucopolysaccharidosis Type VII
Interventions
Not listed
Lead sponsor
University of Minnesota
Other
Eligibility
6 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2019
U.S. locations
3
States / cities
Oakland, California • Minneapolis, Minnesota • New York, New York
Source: ClinicalTrials.gov public record
Updated Sep 5, 2019 · Synced Sep 2, 2026, 2:58 AM EDT
Active, not recruiting Not applicable Interventional Accepts healthy volunteers

Improving the Health of Parents and Their Adolescent and Transition-age Youth With Intellectual and Developmental Disabilities

NCT05986305
View directory record Official record
Conditions
Intellectual Disability
Interventions
Go Act, Peer
Behavioral
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
11 Years to 27 Years
Enrollment
406 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2026
U.S. locations
2
States / cities
Carrboro, North Carolina • Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 21, 2026 · Synced Sep 2, 2026, 2:58 AM EDT
Completed No phase listed Observational

Genetic and Physical Characteristics of Rett Syndrome

NCT00299312
View directory record Official record
Conditions
Rett Syndrome, MECP2 Duplication Disorder, Rett-related Disorder
Interventions
Not listed
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
Not listed
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2015
U.S. locations
11
States / cities
Birmingham, Alabama • Oakland, California • San Diego, California + 8 more
Source: ClinicalTrials.gov public record
Updated Mar 15, 2017 · Synced Sep 2, 2026, 2:58 AM EDT
Completed No phase listed Observational Results available

Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®

NCT00937794
View directory record Official record
Conditions
Hunter Syndrome
Interventions
Neurobehavioral testing, Visual and auditory assessments
Behavioral · Other
Lead sponsor
Shire
Industry
Eligibility
32 Months to 18 Years · Male only
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 13, 2021 · Synced Sep 2, 2026, 2:58 AM 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 2, 2026, 2:58 AM EDT
Recruiting No phase listed Observational

Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation

NCT02089789
View directory record Official record
Conditions
Congenital Disorders of Glycosylation
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 80 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 30, 2026 · Synced Sep 2, 2026, 2:58 AM EDT
Recruiting Phase 3 Interventional

To Investigate the Efficacy of Treatment With Oral NA-921 (Bionetide) Versus Placebo in Females With Rett Syndrome

NCT06840496
View directory record Official record
Conditions
Rett Syndrome
Interventions
Bionetide, Placebo
Drug
Lead sponsor
Biomed Industries, Inc.
Industry
Eligibility
5 Years to 20 Years · Female only
Enrollment
210 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
14
States / cities
Phoenix, Arizona • La Jolla, California • Los Angeles, California + 11 more
Source: ClinicalTrials.gov public record
Updated Mar 26, 2026 · Synced Sep 2, 2026, 2:58 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Strategies for Teaching Verbs

NCT03441685
View directory record Official record
Conditions
Language Development Disorders, Down Syndrome, Child Language
Interventions
Semantic cues (perform action), syntactic cues (sentence frame), or combined semantic and syntactic cues
Behavioral
Lead sponsor
Vanderbilt University Medical Center
Other
Eligibility
3 Years to 17 Years
Enrollment
44 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2021
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Jun 6, 2024 · Synced Sep 2, 2026, 2:58 AM EDT
Recruiting Not applicable Interventional

A VIRTUAL Three-month Intervention Study of the Effects of a Smartphone Application (HippoCamera) on Memory in Teens and Young Adults With Down Syndrome

NCT07008989
View directory record Official record
Conditions
Memory Replay, HippoCamera
Interventions
Memory replay
Behavioral
Lead sponsor
Boston College
Other
Eligibility
15 Years to 35 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Chestnut Hill, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jul 13, 2026 · Synced Sep 2, 2026, 2:58 AM EDT
Completed Phase 2 Interventional Results available

Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease

NCT02060526
View directory record Official record
Conditions
Sanfilippo Syndrome
Interventions
Recombinant human heparan N-sulfatase [rhHNS]
Drug
Lead sponsor
Shire
Industry
Eligibility
12 Months to 48 Months
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
3
States / cities
Torrance, California • Minneapolis, Minnesota • Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 7, 2021 · Synced Sep 2, 2026, 2:58 AM EDT
Completed No phase listed Observational

Non-Invasive Screening for Fetal Aneuploidy

NCT00847990
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome
Interventions
Maternal blood screening test for fetal aneuploidy
Other
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
5,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
25
States / cities
Mesa, Arizona • Phoenix, Arizona • Tucson, Arizona + 18 more
Source: ClinicalTrials.gov public record
Updated Sep 4, 2011 · Synced Sep 2, 2026, 2:58 AM EDT