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ClinicalTrials.gov public records Last synced Sep 3, 2026, 10:25 AM EDT

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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Conditions
Rett Syndrome
Interventions
Emerald
Device
Lead sponsor
Rett Syndrome Research Trust
Other
Eligibility
Female only
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
1
States / cities
Boston, Massachusetts
Completed Phase 2 Interventional Results available

Simvastatin Therapy in Smith-Lemli-Opitz Syndrome

NCT00064792
Conditions
Smith-Lemli-Opitz Syndrome
Interventions
Simvastatin Susp., OraPlus
Drug
Lead sponsor
Forbes Porter, M.D.
NIH
Eligibility
4 Years to 18 Years
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2010
U.S. locations
1
States / cities
Bethesda, Maryland
Completed Phase 1Phase 2 Interventional Results available

RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome

NCT02991807
Conditions
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome
Interventions
RAD001, Placebo
Drug
Lead sponsor
Boston Children's Hospital
Other
Eligibility
5 Years to 45 Years
Enrollment
46 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
3
States / cities
Palo Alto, California • Boston, Massachusetts • Cleveland, Ohio
Completed Phase 1 Interventional Accepts healthy volunteers

Study of Acamprosate in Fragile x Syndrome

NCT01911455
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
Not yet recruiting No phase listed Observational

PGx Medication Safety Reviews of Persons With IDD

NCT07092852
Conditions
Intellectual Disability, Mild, Intellectual Disability, Mild to Moderate, Developmental Disability
Interventions
Cheek swab for PGx testing, Medication safety review
Other
Lead sponsor
GalenusRx, Inc.
Industry
Eligibility
21 Years and older
Enrollment
700 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
2
States / cities
Montverde, Florida • The Bronx, New York
Conditions
Prader Willi Syndrome
Interventions
Intranasal oxytocin, Placebo
Drug · Other
Lead sponsor
University of Florida
Other
Eligibility
5 Years to 11 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015
U.S. locations
3
States / cities
Orange, California • Gainesville, Florida • Kansas City, Kansas
Enrolling by invitation Not applicable Interventional

Long-term Evaluation of Nasopharyngeal Airway in Hypotonia

NCT06614582
Conditions
Hypotonia, Muscle, Obstructive Sleep Apnea, Nasal Airway Obstruction
Interventions
Self-Supporting Nasopharyngeal Airway (ssNPA)
Device
Lead sponsor
University of Michigan
Other
Eligibility
3 Years to 23 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
1
States / cities
Ann Arbor, Michigan
Conditions
Alzheimer Disease, Down Syndrome
Interventions
ION269
Drug
Lead sponsor
Ionis Pharmaceuticals, Inc.
Industry
Eligibility
35 Years to 55 Years
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
5
States / cities
Indianapolis, Indiana • Kansas City, Kansas • Lexington, Kentucky + 2 more
Conditions
Obstructive Sleep Apnea, Down Syndrome
Interventions
Atomoxetine and Oxybutynin (ato-oxy)
Drug
Lead sponsor
University of Arizona
Other
Eligibility
6 Years to 17 Years
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
1
States / cities
Tucson, Arizona
Completed Phase 2 Interventional Results available

HSCT for High Risk Inherited Inborn Errors

NCT00383448
Conditions
Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Tay Sachs Disease, Sandhoffs Disease, Wolman Disease, I-Cell Disease, Sanfilippo Syndrome, GM1 Gangliosidosis
Interventions
Clofarabine, Total body Irradiation, Melphalan, Hematopoietic Stem Cell Transplantation, Alemtuzumab, mycophenylate mofetil, Cyclosporine A, Hydroxyurea
Drug · Procedure · Biological + 1 more
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 70 Years
Enrollment
38 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2014
U.S. locations
1
States / cities
Minneapolis, Minnesota
Recruiting Phase 1Phase 2 Interventional Accepts healthy volunteers

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

NCT06239116
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
Conditions
Down Syndrome
Interventions
No Intervention
Other
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
6 Years to 11 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
3
States / cities
Tucson, Arizona • Boston, Massachusetts • Durham, North Carolina
Recruiting Not applicable Interventional

Harnessing Communication Preferences

NCT07278544
Conditions
Intellectual Disability, Autism Spectrum Disorder, Self-Injurious Behavior, Communication Disabilities, Communication, Nonverbal
Interventions
PrefFCT, NonPrefFCT
Behavioral
Lead sponsor
Joel E. Ringdahl
Other
Eligibility
2 Years to 90 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2031
U.S. locations
2
States / cities
Athens, Georgia • Iowa City, Iowa
Conditions
Self-Injurious Behavior, Mental Retardation
Interventions
Naltrexone hydrochloride, Transcutaneous sensory nerve stimulation
Drug · Procedure
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
4 Years to 25 Years
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1997 – 2002
U.S. locations
2
States / cities
Chapel Hill, North Carolina • Morganton, North Carolina
Conditions
Prader-Willi Syndrome
Interventions
tVNS, intermittent stimulation, tVNS, continuous stimulation
Device
Lead sponsor
Foundation for Prader-Willi Research
Other
Eligibility
10 Years to 40 Years
Enrollment
102 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
18
States / cities
Palo Alto, California • San Diego, California • Aurora, Colorado + 14 more
Conditions
Fragile X Syndrome
Interventions
MG01CI extended-release tablet
Drug
Lead sponsor
Alcobra Ltd.
Industry
Eligibility
15 Years to 55 Years
Enrollment
62 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
11
States / cities
Phoenix, Arizona • Sacramento, California • Aurora, Colorado + 8 more
Conditions
Down Syndrome
Interventions
Exercise
Other
Lead sponsor
Boston Children's Hospital
Other
Eligibility
10 Years to 17 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2021
U.S. locations
1
States / cities
Boston, Massachusetts
Completed No phase listed Observational Accepts healthy volunteers

Impact of Elastin Mediated Vascular Stiffness on End Organs

NCT02840448
Conditions
Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
3 Years to 85 Years
Enrollment
159 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2024
U.S. locations
2
States / cities
Bethesda, Maryland • St Louis, Missouri
Conditions
Hunter Syndrome
Interventions
Idursulfase-IT, Elaprase
Drug
Lead sponsor
Shire
Industry
Eligibility
Up to 18 Years · Male only
Enrollment
56 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2024
U.S. locations
3
States / cities
Oakland, California • Chicago, Illinois • Chapel Hill, North Carolina
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
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
Terminated No phase listed Observational Accepts healthy volunteers

Neuromuscular Characteristics of Individuals With Down Syndrome (DS)

NCT00643955
Conditions
Down Syndrome
Interventions
muscle strength
Other
Lead sponsor
State University of New York - Upstate Medical University
Other
Eligibility
18 Years to 45 Years
Enrollment
15 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2008
U.S. locations
1
States / cities
Syracuse, New York
Conditions
Down Syndrome, Down Syndrome, Partial Trisomy 21, Alzheimer Disease
Interventions
[18F]-FEOBV Radiotracer
Drug
Lead sponsor
Vanderbilt University Medical Center
Other
Eligibility
18 Years to 55 Years
Enrollment
30 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2027
U.S. locations
1
States / cities
Nashville, Tennessee
Completed Not applicable Interventional Accepts healthy volunteers Results available

Blood Flow Regulation in Individuals With Down Syndrome - Training Study

NCT04854122
Conditions
Down Syndrome
Interventions
Combined exercise intervention, Usual care / Sham intervention
Behavioral
Lead sponsor
University of Nevada, Las Vegas
Other
Eligibility
18 Years to 35 Years
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2024
U.S. locations
1
States / cities
Las Vegas, Nevada