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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Conditions
X-Linked Adrenoleukodystrophy (X-ALD), Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD)
Interventions
Allo-HSCT
Genetic
Lead sponsor
Genetix Biotherapeutics Inc.
Industry
Eligibility
Up to 17 Years · Male only
Enrollment
59 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
6
States / cities
Los Angeles, California • Palo Alto, California • Boston, Massachusetts + 3 more
Conditions
Ataxia Telangiectasia
Interventions
Baclofen, Placebo
Drug
Lead sponsor
Johns Hopkins University
Other
Eligibility
12 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2011
U.S. locations
2
States / cities
Baltimore, Maryland
Active, not recruiting No phase listed Observational Accepts healthy volunteers

The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics

NCT05692596
Conditions
Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst, Chronic Pancreatitis, Fatty Pancreas, Genetic Pancreatic Cancer, Genetic Pancreatitis, BRCA Mutation, Lynch Syndrome, FAP, Familial Atypical Multiple Mole-Melanoma, PALB2 Gene Mutation, Peutz-Jeghers Syndrome, Ataxia Telangiectasia
Interventions
Data collection
Other
Lead sponsor
H. Lee Moffitt Cancer Center and Research Institute
Other
Eligibility
18 Years and older
Enrollment
317 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2026
U.S. locations
1
States / cities
Tampa, Florida
Conditions
Ataxia-Telangiectasia (A-T)
Interventions
A-T iPS cell line, Carrier patients iPS cell line
Other
Lead sponsor
Johns Hopkins University
Other
Eligibility
3 Years to 100 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
1
States / cities
Baltimore, Maryland
Conditions
Friedreich Ataxia
Interventions
plethysmography
Diagnostic Test
Lead sponsor
University of Pittsburgh
Other
Eligibility
18 Years to 79 Years
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Conditions
Niemann-Pick Diseases
Interventions
Not listed
Lead sponsor
National Niemann-Pick Disease Foundation
Other
Eligibility
18 Years and older
Enrollment
76 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020
U.S. locations
1
States / cities
New York, New York
Conditions
Arginase I Deficiency, Hyperargininemia
Interventions
Pegzilarginase, Placebo
Drug
Lead sponsor
Aeglea Biotherapeutics
Industry
Eligibility
2 Years and older
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2023
U.S. locations
17
States / cities
Rogers, Arkansas • Orange, California • Stanford, California + 14 more
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
ARG1 Deficiency
Interventions
Loargys Arginine Test System
Device
Lead sponsor
Immedica Pharma US Inc
Industry
Eligibility
0 Years to 100 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
1
States / cities
Atlanta, Georgia
Conditions
Pompe Disease, Glycogen Storage Disease Type II (GSD-II), Glycogenesis 2 Acid Maltase Deficiency
Interventions
alglucosidase alfa
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
6 Months and older
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2010
U.S. locations
9
States / cities
Birmingham, Alabama • Stanford, California • Washington D.C., District of Columbia + 6 more
Conditions
Gaucher Disease, Type 1
Interventions
Not listed
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
16 Years to 65 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
1
States / cities
New York, New York
Conditions
Pompe Disease, Glycogen Storage Disease Type II (GSD II)
Interventions
alglucosidase alfa
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Not listed
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2020
U.S. locations
4
States / cities
Valhalla, New York • Cincinnati, Ohio • Salt Lake City, Utah + 1 more
Conditions
Friedreich Ataxia
Interventions
DT-216, Placebo
Drug
Lead sponsor
Design Therapeutics, Inc.
Industry
Eligibility
18 Years to 55 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
1
States / cities
Eatontown, New Jersey
Completed Phase 4 Interventional Accepts healthy volunteers Results available

Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS)

NCT01831934
Conditions
MELAS Syndrome
Interventions
Fluzone®
Biological
Lead sponsor
Stanford University
Other
Eligibility
13 Years to 65 Years
Enrollment
22 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2012
U.S. locations
1
States / cities
Stanford, California
Conditions
Friedreich Ataxia
Interventions
CTI-1601, Placebo
Biological
Lead sponsor
Larimar Therapeutics, Inc.
Industry
Eligibility
18 Years and older
Enrollment
27 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2021
U.S. locations
1
States / cities
Eatontown, New Jersey
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
Hurler Syndrome, Inherited Metabolic Disorder, Lysosomal Storage Disorder, Metachromatic Leukodystrophy, Inborn Errors of Metabolism
Interventions
rivogenlecleucel, rimiducid
Biological · Drug
Lead sponsor
Bellicum Pharmaceuticals
Industry
Eligibility
3 Months to 21 Years
U.S. locations
2
States / cities
Los Angeles, California • Palo Alto, California
Conditions
Phenylketonuria
Interventions
rAvPAL-PEG
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
16 Years to 70 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2015
U.S. locations
9
States / cities
Aurora, Colorado • Gainesville, Florida • Louisville, Kentucky + 6 more
Conditions
Fabry Disease
Interventions
migalastat HCl
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years to 65 Years · Female only
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2008
U.S. locations
1
States / cities
Decatur, Georgia
Withdrawn Phase 1 Interventional Accepts healthy volunteers

O2 Transport and Utilization in Health and Lung Disease

NCT04014712
Conditions
COPD, Tetrahydrobiopterin Deficiency, Oxidative Stress
Interventions
Tetrahydrobiopterin, Placebo oral tablet
Drug
Lead sponsor
University of Massachusetts, Amherst
Other
Eligibility
18 Years to 85 Years
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2022
U.S. locations
1
States / cities
Amherst, Massachusetts
Conditions
Fabry Disease
Interventions
migalastat HCl
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years to 55 Years · Male only
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2008
U.S. locations
5
States / cities
Los Angeles, California • Decatur, Georgia • Bethesda, Maryland + 2 more
Conditions
Aspartylglucosaminuria, Fucosidosis, Galactosialidosis, Alpha Mannosidosis, Beta Mannosidosis, Mucolipidosis II, Mucolipidosis III, Schindler Disease, Sialidosis
Interventions
Non-interventional.
Other
Lead sponsor
Greenwood Genetic Center
Other
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2020
U.S. locations
1
States / cities
North Charleston, South Carolina
Conditions
GM1 Gangliosidosis, GM1 Gangliosidosis, Type I, GM1 Gangliosidosis, Type 2, Beta-Galactosidase-1 (GLB1) Deficiency
Interventions
PBGM01
Biological
Lead sponsor
Gemma Biotherapeutics
Industry
Eligibility
1 Month to 24 Months
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2029
U.S. locations
4
States / cities
Oakland, California • Minneapolis, Minnesota • New Brunswick, New Jersey + 1 more