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ClinicalTrials.gov public records Last synced Jul 22, 2026, 3:54 PM EDT

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Showing 25–36 of 12 matching trials from the live ClinicalTrials.gov search.
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Conditions
Acid Sphingomyelinase Deficiency, Niemann-Pick Disease
Interventions
rhASM
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
18 Years to 65 Years
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2009
U.S. locations
1
States / cities
New York, New York
Completed Not applicable Interventional Results available

Pharmacogenetic Testing Among Home Health Patients

NCT02378220
Conditions
Adverse Drug Events, Adverse Drug Reactions, Drug Interaction Potentiation, Drug Metabolism, Poor, CYP2D6-RELATED, Drug Metabolism, Poor, CYP2C19-RELATED, Cytochrome P450 Enzyme Deficiency, Cytochrome P450 CYP2D6 Enzyme Deficiency, Cytochrome P450 CYP2C9 Enzyme Deficiency, Cytochrome P450 CYP2C19 Enzyme Deficiency, Cytochrome P450 CYP3A Enzyme Deficiency, Poor Metabolizer Due to Cytochrome P450 CYP2C9 Variant, Poor Metabolizer Due to Cytochrome p450 CYP2C19 Variant, Poor Metabolizer Due to Cytochrome P450 CYP2D6 Variant
Interventions
Pharmacogenetic testing
Genetic
Lead sponsor
Genelex Corporation
Industry
Eligibility
50 Years and older
Enrollment
110 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
1
States / cities
Searcy, Arkansas
Conditions
Alpha1-Antitrypsin Deficiency
Interventions
Alpha-1 15%, Liquid Alpha1-Proteinase Inhibitor (Human)
Biological
Lead sponsor
Grifols Therapeutics LLC
Industry
Eligibility
18 Years to 80 Years
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
5
States / cities
Los Angeles, California • Gainesville, Florida • Miami, Florida + 2 more
Conditions
NGLY1 Deficiency
Interventions
GS-100
Genetic
Lead sponsor
Grace Science, LLC
Industry
Eligibility
2 Years to 18 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2031
U.S. locations
2
States / cities
Oakland, California • Houston, Texas
Conditions
Immunodeficiency, Hematopoietic Stem Cell Transplantation
Interventions
Allogeneic HSCT, Busulfan test dose, Mycophenolate mofetil (MMF), Tacrolimus, Busulfan, Total Body Irradiation (TBI), Fludarabine, Cyclophosphamide (CY), Post-Transplant Cyclophosphamide (PTCY)
Procedure · Drug · Radiation
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 75 Years
Enrollment
54 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2031
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Sarcoma, Kaposi, HIV Infections
Interventions
SU5416
Drug
Lead sponsor
SUGEN
Industry
Eligibility
18 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
South San Francisco, California
Conditions
HIV Infection
Interventions
Not listed
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
12 Years to 24 Years
Enrollment
440 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2007
U.S. locations
14
States / cities
Los Angeles, California • San Diego, California • San Francisco, California + 11 more
Completed Phase 1 Interventional Accepts healthy volunteers

Phase 1 Single Dose Study of ALXN1101 in Healthy Volunteers

NCT01894165
Conditions
Molybdenum Cofactor Deficiency (MoCD), Rare Autosomal Recessive Disorder, Deficiency of Activity of Molybdenum-dependent Enzymes (Sulfite Oxidase [SOX], Xanthine Dehydrogenase, and Aldehyde Oxidase)
Interventions
ALXN1101, Placebo
Drug
Lead sponsor
Origin Biosciences
Industry
Eligibility
18 Years to 60 Years
Enrollment
24 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013
U.S. locations
1
States / cities
Baltimore, Maryland
Conditions
Mucopolysaccharidosis II
Interventions
iduronate-2-sulfatase enzyme replacement therapy, Placebo
Biological
Lead sponsor
Shire
Industry
Eligibility
5 Years to 25 Years · Male only
Enrollment
96 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2005
U.S. locations
4
States / cities
Oakland, California • St Louis, Missouri • Chapel Hill, North Carolina + 1 more
Completed No phase listed Observational

YouScript IMPACT Registry

NCT02191358
Conditions
Adverse Drug Events, Adverse Drug Reactions, Drug Interaction Potentiation, Drug Metabolism, Poor, CYP2D6-RELATED, Drug Metabolism, Poor, CYP2C19-RELATED, Cytochrome P450 Enzyme Deficiency, Cytochrome P450 CYP2D6 Enzyme Deficiency, Cytochrome P450 CYP2C9 Enzyme Deficiency, Cytochrome P450 CYP2C19 Enzyme Deficiency, Cytochrome P450 CYP3A Enzyme Deficiency, Poor Metabolizer Due to Cytochrome P450 CYP2C9 Variant, Poor Metabolizer Due to Cytochrome P450 CYP2C19 Variant, Poor Metabolizer Due to Cytochrome P450 CYP2D6 Variant
Interventions
Not listed
Lead sponsor
Genelex Corporation
Industry
Eligibility
65 Years and older
Enrollment
800 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
7
States / cities
Garden Grove, California • Denver, Colorado • Lexington, Kentucky + 3 more
Conditions
Lysosomal Acid Lipase Deficiency
Interventions
Sebelipase Alfa, Placebo
Drug
Lead sponsor
Alexion Pharmaceuticals, Inc.
Industry
Eligibility
4 Years and older
Enrollment
66 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2018
U.S. locations
11
States / cities
Tucson, Arizona • Palo Alto, California • San Francisco, California + 8 more
Completed No phase listed Observational Results available

Registry Study of Revcovi Treatment in Patients With ADA-SCID

NCT03878069
Conditions
Adenosine Deaminase Severe Combined Immunodeficiency
Interventions
elapegademase-lvlr
Biological
Lead sponsor
Chiesi Farmaceutici S.p.A.
Industry
Eligibility
0 Months to 65 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2023
U.S. locations
14
States / cities
Los Angeles, California • San Diego, California • San Francisco, California + 11 more