- Conditions
- Smith-Lemli-Opitz Syndrome
- Interventions
- Cholesterol Suspension, CRH, Cholesterol
- Drug
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Eligibility
- Not listed
- Enrollment
- 130 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- Started 1998
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
Search Results
Search by objective public record fields.
Search by query text, NCT ID, condition, intervention, sponsor, city, state, recruitment status, phase, study type, healthy volunteer eligibility, sex, or age. Results come from ClinicalTrials.gov. When the live registry is unavailable, a clearly labeled stored copy may be shown.
These results were retrieved from the live ClinicalTrials.gov registry. Filters and sort order apply to this result list.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Showing 265–288
of 1,605
matching trials from the live ClinicalTrials.gov search.
- Conditions
- Fabry Disease
- Interventions
- migalastat
- Drug
- Lead sponsor
- Amicus Therapeutics
- Industry
- Eligibility
- Female only
- Enrollment
- 20 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2030
- U.S. locations
- 1
- States / cities
- Philadelphia, Pennsylvania
- Conditions
- Lysosomal Acid Lipase Deficiency
- Interventions
- There is no intervention in the study
- Other
- Lead sponsor
- Alexion Pharmaceuticals, Inc.
- Industry
- Eligibility
- 2 Years to 16 Years
- Enrollment
- 22 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2016 – 2017
- U.S. locations
- 2
- States / cities
- Atlanta, Georgia • Houston, Texas
- Conditions
- MPS 7, Sly Syndrome, Mucopolysaccharidosis, MPS VII
- Interventions
- UX003, Placebo
- Drug · Other
- Lead sponsor
- Ultragenyx Pharmaceutical Inc
- Industry
- Eligibility
- 5 Years to 35 Years
- Enrollment
- 12 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2016
- U.S. locations
- 4
- States / cities
- Oakland, California • Orange, California • Miami, Florida + 1 more
- Conditions
- Phenylketonuria
- Interventions
- PTC923, Placebo
- Drug
- Lead sponsor
- PTC Therapeutics
- Industry
- Eligibility
- Not listed
- Enrollment
- 157 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2023
- U.S. locations
- 12
- States / cities
- Stanford, California • Aurora, Colorado • Gainesville, Florida + 9 more
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, ALD (Adrenoleukodystrophy), X-linked Adrenoleukodystrophy, X-ALD, Adrenomyeloneuropathy, Aicardi Goutieres Syndrome, AGS, Alexander Disease, Alexanders Leukodystrophy, AxD, ADLD, Canavan Disease, CTX, Cerebrotendinous Xanthomatoses, Krabbe Disease, GALC Deficiency, Globoid Leukodystrophy, TUBB4A-Related Leukodystrophy, H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum, HBSL, HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity, LBSL, Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, ALSP, CSF1R Gene Mutation, HCC - Hypomyelination and Congenital Cataract, MLC1, Megalencephalic Leukoencephalopathy With Subcortical Cysts 1, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication | Blood or Tissue | Mutations, Pelizaeus-Merzbacher-Like Disease, 1, Peroxisomal Biogenesis Disorder, Zellweger Syndrome, Refsum Disease, Salla Disease, Sialic Storage Disease, Sjögren, Sjogren-Larsson Syndrome, Van Der Knapp Disease, Vanishing White Matter Disease, Charcot-Marie-Tooth, CMT, Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, Allan-Herndon-Dudley Syndrome, Cadasil, Cockayne Syndrome, Multiple Sulfatase Deficiency, Gangliosidoses, GM2 Gangliosidosis, BPAN, Labrune Syndrome, LCC, Mucopolysaccharidoses, TBCK-Related Intellectual Disability Syndrome
- Interventions
- Not listed
- Lead sponsor
- Children's Hospital of Philadelphia
- Other
- Eligibility
- Up to 18 Years
- Enrollment
- 236 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2024
- U.S. locations
- 1
- States / cities
- Philadelphia, Pennsylvania
- Conditions
- Urea Cycle Disorder
- Interventions
- RAVICTI, NaPBA
- Drug
- Lead sponsor
- Amgen
- Industry
- Eligibility
- Up to 99 Years
- Enrollment
- 16 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2022
- U.S. locations
- 6
- States / cities
- Gainesville, Florida • New York, New York • Cleveland, Ohio + 3 more
- Conditions
- Gaucher Disease
- Interventions
- Not listed
- Lead sponsor
- O & O Alpan LLC
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 33 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2011 – 2016
- U.S. locations
- 1
- States / cities
- Fairfax, Virginia
- Conditions
- Phenylketonurias
- Interventions
- Pegvaliase-Pqpz
- Drug
- Lead sponsor
- University of Missouri-Columbia
- Other
- Eligibility
- 18 Years to 55 Years
- Enrollment
- 6 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2025
- U.S. locations
- 2
- States / cities
- Boston, Massachusetts • Columbia, Missouri
- Conditions
- Gout
- Interventions
- SEL-037 (pegsiticase)
- Biological
- Lead sponsor
- Selecta Biosciences, Inc.
- Industry
- Eligibility
- 21 Years to 75 Years
- Enrollment
- 22 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2015 – 2016
- U.S. locations
- 2
- States / cities
- Duncansville, Pennsylvania • Dallas, Texas
- Conditions
- Cytomegalovirus Retinitis, HIV Infections
- Interventions
- Globulin, Immune, Ganciclovir
- Drug
- Lead sponsor
- American National Red Cross
- Other
- Eligibility
- 18 Years and older
- Healthy volunteers
- Healthy volunteers not accepted
- U.S. locations
- 1
- States / cities
- Washington D.C., District of Columbia
- Conditions
- Glucosephosphate Dehydrogenase Deficiency, Hyperbilirubinemia, Hemolytic Disease of Newborn
- Interventions
- tin mesoporphyrin
- Drug
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Eligibility
- 0 Years to 24 Hours
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- Started 1999
- U.S. locations
- 2
- States / cities
- Boston, Massachusetts • New York, New York
- Conditions
- Hermansky Pudlak Syndrome, Interstitial Lung Disease
- Interventions
- Pirfenidone
- Drug
- Lead sponsor
- Jesse Roman
- Other
- Eligibility
- 18 Years to 75 Years
- Enrollment
- 50 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2022
- U.S. locations
- 1
- States / cities
- Philadelphia, Pennsylvania
- Conditions
- Mucopolysaccharidosis VI
- Interventions
- N-acetylgalactosamine 4-sulfatase, Placebo/rhASB
- Drug
- Lead sponsor
- BioMarin Pharmaceutical
- Industry
- Eligibility
- 7 Years and older
- Enrollment
- 39 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2004 – 2006
- U.S. locations
- 1
- States / cities
- Novato, California
- Conditions
- Achondroplasia
- Interventions
- Not listed
- Lead sponsor
- QED Therapeutics, a BridgeBio company
- Industry
- Eligibility
- 30 Months to 17 Years
- Enrollment
- 271 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2025
- U.S. locations
- 8
- States / cities
- Oakland, California • Aurora, Colorado • Wilmington, Delaware + 5 more
- Conditions
- Acute Gouty Arthritis
- Interventions
- Canakinumab 150mg in prefilled syringe
- Drug
- Lead sponsor
- Novartis Pharmaceuticals
- Industry
- Eligibility
- 18 Years to 85 Years
- Enrollment
- 397 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2011 – 2013
- U.S. locations
- 54
- States / cities
- Anniston, Alabama • Gulf Shores, Alabama • Mobile, Alabama + 50 more
- Conditions
- Phenylketonuria, PKU
- Interventions
- Acute Moderate Intensity Exercise
- Other
- Lead sponsor
- Oregon Health and Science University
- Other
- Eligibility
- 14 Years to 17 Years · Male only
- Enrollment
- 2 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2013 – 2014
- U.S. locations
- 1
- States / cities
- Portland, Oregon
- Conditions
- Uncontrolled Gout, Chronic Gout
- Interventions
- Pegloticase, Methotrexate (MTX)
- Biological · Drug
- Lead sponsor
- Amgen
- Industry
- Eligibility
- 18 Years to 80 Years
- Enrollment
- 54 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2023
- U.S. locations
- 12
- States / cities
- Anchorage, Alaska • Glendale, Arizona • San Leandro, California + 9 more
- Conditions
- Amyloidosis, Amyloid Cardiomyopathy, Transthyretin Amyloidosis, Cardiomyopathies, Heart Diseases
- Interventions
- acoramidis, Placebo Oral Tablet
- Drug
- Lead sponsor
- Eidos Therapeutics, a BridgeBio company
- Industry
- Eligibility
- 18 Years to 90 Years
- Enrollment
- 632 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2023
- U.S. locations
- 40
- States / cities
- Los Angeles, California • Santa Monica, California • Aurora, Colorado + 32 more
- 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
- Mild Autonomous Cortisol Secretion (MACS)
- Interventions
- Osilodrostat (Isturisa)
- Drug
- Lead sponsor
- Johns Hopkins University
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 10 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2026 – 2029
- U.S. locations
- 1
- States / cities
- Baltimore, Maryland
- Conditions
- Pregnancy, Phenylketonuria
- Interventions
- Metabolic camp
- Behavioral
- Lead sponsor
- Emory University
- Other
- Eligibility
- 11 Years and older · Female only
- Enrollment
- 200 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 1995 – 2037
- U.S. locations
- 1
- States / cities
- Atlanta, Georgia
- 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
- Immune Deficiency, Immune Dysregulation Disorder, Allergic Inflammation
- Interventions
- Not listed
- Lead sponsor
- Columbia University
- Other
- Eligibility
- Up to 99 Years
- Enrollment
- 10,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2010 – 2027
- U.S. locations
- 1
- States / cities
- New York, New York