Independent directory Public ClinicalTrials.gov records United States
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ClinicalTrials.gov public records Last synced Oct 14, 2026, 12:18 AM EDT

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Showing 193–216 of 501 matching trials from the live ClinicalTrials.gov search.
Conditions
GM1 Gangliosidosis
Interventions
Natural history
Other
Lead sponsor
LYSOGENE
Industry
Eligibility
Not listed
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
1
States / cities
Plymouth, Massachusetts
Conditions
Healthy
Interventions
Palbociclib administered Fasted, Palbociclib administered Fed high calorie, Palbociclib administered Fed low calorie, Palbociclib administered Fed moderate calorie
Drug
Lead sponsor
Pfizer
Industry
Eligibility
18 Years to 55 Years
Enrollment
28 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013
U.S. locations
1
States / cities
New Haven, Connecticut
Conditions
Homozygous Familial Hypercholesterolemia
Interventions
lerodalcibep, evolocumab
Drug
Lead sponsor
LIB Therapeutics LLC
Industry
Eligibility
10 Years and older
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2023
U.S. locations
2
States / cities
Evanston, Illinois • Cincinnati, Ohio
Conditions
Niemann-Pick Diseases, Acid Sphingomyelinase Deficiency
Interventions
Olipudase alfa
Drug
Lead sponsor
Sanofi
Industry
Eligibility
Up to 2 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2029
U.S. locations
6
States / cities
Chicago, Illinois • Cincinnati, Ohio • Columbus, Ohio + 3 more
Conditions
Juvenile Neuronal Ceroid Lipofuscinosis (CLN3), Batten Disease
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
1 Week to 100 Years
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2050
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Fabry Disease
Interventions
Fabrazyme (agalsidase beta)
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
7 Years to 15 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2005
U.S. locations
1
States / cities
Tucson, Arizona
Conditions
Fabry Disease
Interventions
migalastat HCl 150 mg
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
84 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
7
States / cities
Atlanta, Georgia • Kansas City, Kansas • Grand Rapids, Michigan + 4 more
Conditions
Hypercholesterolemia, Familial Hypercholesterolemia
Interventions
Enlicitide Decanoate, Placebo
Drug
Lead sponsor
Merck Sharp & Dohme LLC
Industry
Eligibility
18 Years and older
Enrollment
2,912 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
49
States / cities
Daphne, Alabama • Foley, Alabama • Phoenix, Arizona + 45 more
Completed No phase listed Observational

Gene Therapy for Tay-Sachs Disease

NCT01869270
Conditions
Tay Sachs Disease, Sandhoff Disease, Late Onset Tay Sachs Disease
Interventions
Not listed
Lead sponsor
University of Minnesota
Other
Eligibility
Not listed
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2014
U.S. locations
2
States / cities
Tampa, Florida • Minneapolis, Minnesota
Conditions
Gaucher Disease
Interventions
Standard of Care
Other
Lead sponsor
Takeda
Industry
Eligibility
Up to 5 Years
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Fairfax, Virginia
Conditions
Niemann Pick Diseases
Interventions
OGT918
Drug
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
12 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2007
U.S. locations
2
States / cities
Bethesda, Maryland • New York, New York
Conditions
Familial Hypercholesterolemia
Interventions
Implitapide
Drug
Lead sponsor
Medical Research Laboratories International
Industry
Eligibility
8 Years to 70 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2005
U.S. locations
1
States / cities
Cincinnati, Ohio
Conditions
GM1 Gangliosidosis, Sandhoff Disease, Tay-Sachs Disease
Interventions
Not listed
Lead sponsor
Azafaros B.V.
Industry
Eligibility
2 Years to 20 Years
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
2
States / cities
Oakland, California • Rochester, Minnesota
Conditions
Leukodystrophy, Globoid Cell
Interventions
PBKR03
Biological
Lead sponsor
Gemma Biotherapeutics
Industry
Eligibility
1 Month to 9 Months
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2030
U.S. locations
4
States / cities
Chicago, Illinois • New York, New York • Philadelphia, Pennsylvania + 1 more
Conditions
Long QT Syndrome, Familial Hypercholesterolemia, Ethics, Genetic Testing
Interventions
Direct contact of family members for cascade screening of relevant variants
Behavioral
Lead sponsor
University of Maryland, Baltimore
Other
Eligibility
18 Years and older
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
1
States / cities
Lancaster, Pennsylvania
Conditions
Sjögren-Larsson Syndrome
Interventions
Active topical NS2 1% dermatologic cream, Vehicle placebo 0.0% NS2 dermatologic cream
Drug
Lead sponsor
Aldeyra Therapeutics, Inc.
Industry
Eligibility
6 Years and older
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
3
States / cities
Omaha, Nebraska • Hershey, Pennsylvania • Fairfax, Virginia
Completed Phase 1Phase 2 Interventional Results available

Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome

NCT00272844
Conditions
Smith-Lemli-Opitz Syndrome
Interventions
crystalline cholesterol oil-based suspension
Drug
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2011
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Metachromatic Leukodystrophy
Interventions
Warfarin
Drug
Lead sponsor
The Cooper Health System
Other
Eligibility
1 Year to 10 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2008
U.S. locations
1
States / cities
Camden, New Jersey
Recruiting No phase listed Observational Accepts healthy volunteers

Inherited Retinal Degenerative Disease Registry

NCT02435940
Conditions
Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome, Bassen-Kornzweig Syndrome, Batten Disease, Best Disease, Choroidal Dystrophy, Choroideremia, Cone Dystrophy, Cone-Rod Dystrophy, Congenital Stationary Night Blindness, Enhanced S-Cone Syndrome, Fundus Albipunctatus, Goldmann-Favre Syndrome, Gyrate Atrophy, Juvenile Macular Degeneration, Kearns-Sayre Syndrome, Leber Congenital Amaurosis, Refsum Syndrome, Retinitis Pigmentosa, Retinitis Punctata Albescens, Retinoschisis, Rod-Cone Dystrophy, Rod Dystrophy, Rod Monochromacy, Stargardt Disease, Usher Syndrome
Interventions
Not listed
Lead sponsor
Foundation Fighting Blindness
Other
Eligibility
Not listed
Enrollment
20,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2037
U.S. locations
1
States / cities
Columbia, Maryland
Conditions
Hypercholesterolemia, Atherosclerotic Cardiovascular Disease, Statin Adverse Reaction
Interventions
bempedoic acid, placebo
Drug · Other
Lead sponsor
Esperion Therapeutics, Inc.
Industry
Eligibility
18 Years and older
Enrollment
345 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2018
U.S. locations
52
States / cities
Gilbert, Arizona • Anaheim, California • Long Beach, California + 47 more
Conditions
Fabry Disease
Interventions
Interview
Other
Lead sponsor
Chiesi Farmaceutici S.p.A.
Industry
Eligibility
Not listed
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022
U.S. locations
7
States / cities
Birmingham, Alabama • Atlanta, Georgia • Iowa City, Iowa + 4 more
Conditions
Neuronal Ceroid Lipofuscinosis, Neuronal Ceroid Lipofuscinosis CLN1, Neuronal Ceroid Lipofuscinosis CLN2, Neuronal Ceroid Lipofuscinosis CLN3, Neuronal Ceroid Lipofuscinosis CLN5, Neuronal Ceroid Lipofuscinosis CLN6, Neuronal Ceroid Lipofuscinosis CLN7, Neuronal Ceroid Lipofuscinosis CLN8, Neuronal Ceroid Lipofuscinosis CLN10, Batten Disease
Interventions
Not listed
Lead sponsor
University of Rochester
Other
Eligibility
Not listed
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2035
U.S. locations
1
States / cities
Rochester, New York
Conditions
Gaucher Disease
Interventions
Digital Engagement Application (GD App), No Intervention
Other
Lead sponsor
Takeda
Industry
Eligibility
18 Years and older
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Fairfax, Virginia
Conditions
Familial Partial Lipodystrophy
Interventions
Obeticholic Acid, Placebo
Drug
Lead sponsor
Abhimanyu Garg
Other
Eligibility
18 Years to 70 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2022
U.S. locations
2
States / cities
Dallas, Texas