Independent directory Public ClinicalTrials.gov records United States
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ClinicalTrials.gov public records Last synced Sep 29, 2026, 3:51 PM EDT

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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Conditions
Gaucher's Disease
Interventions
Lysodase
Drug
Lead sponsor
National Institute of Mental Health (NIMH)
NIH
Eligibility
Not listed
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1993 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Tay-Sachs Disease, Porphyria, Erythropoietic, Leukodystrophy, Globoid Cell, Metabolism, Inborn Errors
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
New York, New York
Conditions
Fabry Disease
Interventions
Migalastat HCl, Agalsidase Beta, Agalsidase Alfa
Drug · Biological
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years to 65 Years · Male only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2012
U.S. locations
5
States / cities
Birmingham, Alabama • Decatur, Georgia • Iowa City, Iowa + 2 more
Recruiting Phase 4 Interventional Accepts healthy volunteers

Effects of Bisphosphonates on OI-Related Hearing Loss

NCT04152551
Conditions
Osteogenesis Imperfecta
Interventions
Risedronate Oral Tablet
Drug
Lead sponsor
Hospital for Special Surgery, New York
Other
Eligibility
6 Years to 100 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2027
U.S. locations
1
States / cities
New York, New York
Conditions
Fabry Disease
Interventions
Replagal
Biological
Lead sponsor
Shire
Industry
Eligibility
18 Years and older
Enrollment
44 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2012
U.S. locations
4
States / cities
Tucson, Arizona • Iowa City, Iowa • New York, New York + 1 more
Conditions
Hunter Syndrome
Interventions
Idursulfase-IT
Drug
Lead sponsor
Takeda
Industry
Eligibility
Male only
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
17
States / cities
Phoenix, Arizona • Oakland, California • Wilmington, Delaware + 14 more
Conditions
Achondroplasia
Interventions
Infigratinib is provided as a single dose of minitablets for oral administration, Infigratinib is provided as sprinkle capsules for daily oral administration, Infigratinib or placebo comparator is provided as sprinkle capsules for daily oral administration
Drug
Lead sponsor
QED Therapeutics, a BridgeBio company
Industry
Eligibility
0 Years to 32 Months
Enrollment
77 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2032
U.S. locations
3
States / cities
Oakland, California • Baltimore, Maryland • Madison, Wisconsin
Conditions
Alpha-Mannosidosis
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
5 Years to 60 Years
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Niemann-Pick Disease, Type C
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
2 Years to 99 Years
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
1
States / cities
Rochester, Minnesota
Conditions
Cystinosis
Interventions
HIIT Exercise
Other
Lead sponsor
Stanford University
Other
Eligibility
18 Years to 60 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Palo Alto, California
Terminated Phase 1Phase 2 Interventional Results available

A Fabry Disease Gene Therapy Study

NCT04040049
Conditions
Fabry Disease, Lysosomal Storage Diseases
Interventions
FLT190
Genetic
Lead sponsor
Spur Therapeutics
Industry
Eligibility
18 Years and older · Male only
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2023
U.S. locations
4
States / cities
Los Angeles, California • New York, New York • Pittsburgh, Pennsylvania + 1 more
Conditions
Macular Degeneration
Interventions
intravitreal injection Lucentis (ranibizumab)
Drug
Lead sponsor
Retina Research Foundation
Other
Eligibility
50 Years to 90 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007
U.S. locations
1
States / cities
Slingerlands, New York
Conditions
Type 2 Gaucher Disease
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Up to 5 Years · Male only
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2006
U.S. locations
1
States / cities
Bethesda, Maryland
Completed No phase listed Observational Accepts healthy volunteers

Vasodilation in Patients With Fabry's Disease

NCT00001774
Conditions
Cerebrovascular Accident, Fabry Disease, Healthy
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Male only
Enrollment
48 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1997 – 2000
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease, Glycogenosis 2
Interventions
Alglucosidase alfa
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Not listed
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003
U.S. locations
1
States / cities
New Brunswick, New Jersey
Conditions
Mucopolysaccharidosis VII, MPS VII, MPS 7, Sly Syndrome
Interventions
No Intervention
Other
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
Not listed
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2032
U.S. locations
7
States / cities
Orange, California • Washington D.C., District of Columbia • Chicago, Illinois + 4 more
Conditions
Parkinson Disease, GBA Gene Mutation, Gaucher Disease
Interventions
PET scan, neuroQWERTY
Diagnostic Test
Lead sponsor
Pacific Parkinson's Research Centre
Other
Eligibility
18 Years to 80 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2026
U.S. locations
2
States / cities
Portland, Oregon • Seattle, Washington
Conditions
Gaucher Disease, Type 1 Gaucher Disease, Gaucher Disease, Type 1
Interventions
afegostat tartrate
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years to 74 Years
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
7
States / cities
Beverly Hills, California • Coral Springs, Florida • Decatur, Georgia + 4 more
Conditions
Gaucher Disease
Interventions
Velaglucerase alfa, Vitamin D
Drug · Dietary Supplement
Lead sponsor
Shire
Industry
Eligibility
18 Years to 70 Years
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2020
U.S. locations
8
States / cities
Beverly Hills, California • Los Angeles, California • Atlanta, Georgia + 5 more
Conditions
MPS VI
Interventions
Not listed
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Not listed
Enrollment
59 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2013
U.S. locations
1
States / cities
Oakland, California
Conditions
Pompe Disease (Late-onset)
Interventions
Cipaglucosidase Alfa, Miglustat, Alglucosidase Alfa, Placebo
Biological · Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
125 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2021
U.S. locations
25
States / cities
Phoenix, Arizona • Little Rock, Arkansas • Irvine, California + 21 more
Conditions
Gaucher Disease, Type 1
Interventions
VPRIV®
Biological
Lead sponsor
Shire
Industry
Eligibility
2 Years and older
Enrollment
95 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2012
U.S. locations
10
States / cities
Los Angeles, California • Oakland, California • Atlanta, Georgia + 7 more
Conditions
Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
Interventions
Adalimumab Injection [Humira], Saline Solution for Injection
Drug
Lead sponsor
Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Other
Eligibility
5 Years and older
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2027
U.S. locations
1
States / cities
Torrance, California
Conditions
Lysosomal Storage Disease, Cholesterol Metabolism
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
1 Day to 99 Years
Enrollment
344 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2023
U.S. locations
1
States / cities
Bethesda, Maryland