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Showing 1–24 of 189 matching trials from the live ClinicalTrials.gov search.
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Completed Phase 2 Interventional

Study of High-Dose Melphalan and Autologous Stem Cell Transplantation in Patients With Primary Light Chain Amyloidosis

NCT00017680
View directory record Official record
Conditions
Amyloidosis
Interventions
Melphalan, Autologous Stem Cell Transplantation
Drug · Procedure
Lead sponsor
Herbert Irving Comprehensive Cancer Center
Other
Eligibility
18 Years to 70 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2004
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 8, 2008 · Synced Sep 15, 2026, 10:50 AM EDT
Completed Phase 2 Interventional Results available

Study of High-Dose Chemotherapy With Bone Marrow or Stem Cell Transplant for Rare Poor-Prognosis Cancers

NCT00141765
View directory record Official record
Conditions
Wilms Tumor, Fibrosarcoma, Carcinoma, Round Cell, Nasopharyngeal Cancer, Brain Tumor, Recurrent
Interventions
Myeloablative Chemotherapy, Stem Cell Rescue
Procedure
Lead sponsor
University of Michigan Rogel Cancer Center
Other
Eligibility
Up to 21 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1997 – 2010
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Jun 19, 2014 · Synced Sep 15, 2026, 10:50 AM EDT
Not listed Phase 2 Interventional

Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome

NCT00004347
View directory record Official record
Conditions
Smith-Lemli-Opitz Syndrome
Interventions
diet
Behavioral
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1995
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 15, 2026, 10:50 AM EDT
Completed No phase listed Observational

Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders

NCT03967743
View directory record Official record
Conditions
Genetic Disease, Genetic Syndrome, Genetic Predisposition to Disease, Development, Infant, Development, Child
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Up to 4 Years
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2026
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 1, 2026 · Synced Sep 15, 2026, 10:50 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Effect of Estrogen on Mental and Social Functioning in Girls With Turner's Syndrome

NCT00004274
View directory record Official record
Conditions
Turner's Syndrome
Interventions
Estrogen
Drug
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
8 Years to 12 Years · Female only
Enrollment
260 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1990
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 15, 2026, 10:50 AM EDT
Completed Phase 2 Interventional

Phase II Randomized Study of Tin Mesoporphyrin for Neonatal Hyperbilirubinemia

NCT00004381
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 15, 2026, 10:50 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Genetic Study of Sitosterolemia

NCT00004481
View directory record Official record
Conditions
Lipid Metabolism, Inborn Errors, Sitosterolemia
Interventions
genetic testing
Procedure
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1999
U.S. locations
1
States / cities
Charleston, South Carolina
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 15, 2026, 10:50 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Vascular Disease Discovery Protocol

NCT03538639
View directory record Official record
Conditions
Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
2 Years to 100 Years
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2037
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 20, 2026 · Synced Sep 15, 2026, 10:50 AM EDT
Enrolling by invitation No phase listed Observational

SLC13A5 Deficiency Natural History Study - United States Only

NCT06144957
View directory record Official record
Conditions
Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders, Genetic Disorder, SLC13A5 Deficiency, EIEE25, Kohlschutter-Tonz Syndrome (Non-ROGDI), Citrate Transporter Disorder, DEE25
Interventions
Not listed
Lead sponsor
TESS Research Foundation
Other
Eligibility
Not listed
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
3
States / cities
Palo Alto, California • Providence, Rhode Island • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Aug 4, 2025 · Synced Sep 15, 2026, 10:50 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis

NCT00872729
View directory record Official record
Conditions
Cystinosis
Interventions
Cystagon®, RP103
Drug
Lead sponsor
Amgen
Industry
Eligibility
Not listed
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Dec 18, 2024 · Synced Sep 15, 2026, 10:50 AM EDT
Terminated Phase 2 Interventional Results available

A Study of Soticlestat in Adults and Children With Rare Epilepsies

NCT03635073
View directory record Official record
Conditions
Epilepsy, Dravet Syndrome (DS), Lennox-Gastaut Syndrome (LGS)
Interventions
Soticlestat
Drug
Lead sponsor
Takeda
Industry
Eligibility
2 Years and older
Enrollment
156 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2025
U.S. locations
27
States / cities
Phoenix, Arizona • Los Angeles, California • Aurora, Colorado + 18 more
Source: ClinicalTrials.gov public record
Updated Sep 3, 2026 · Synced Sep 15, 2026, 10:50 AM EDT
Active, not recruiting Phase 1Phase 2 Interventional

Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis

NCT04713475
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jun 29, 2026 · Synced Sep 15, 2026, 10:50 AM EDT
Completed No phase listed Observational

Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia

NCT00004353
View directory record Official record
Conditions
Mitochondrial Myopathy, MELAS Syndrome, Lactic Acidosis
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
Not listed
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1978
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Jul 9, 2008 · Synced Sep 15, 2026, 10:50 AM EDT
Not listed No phase listed Observational

FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases

NCT06539169
View directory record Official record
Conditions
Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis, Creutzfeld-Jakob Disease, Cystic Fibrosis, Duchenne Muscular Dystrophy, Early-Onset Alzheimer Disease, Ehlers-Danlos Syndrome, Huntington Disease, Gaucher Disease, GM1 Gangliosidosis, Myasthenia Gravis, Pompe Disease, Sickle Cell Disease, Transthyretin Amyloid Cardiomyopathy, Rare Diseases
Interventions
Not listed
Lead sponsor
xCures
Industry
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
1
States / cities
Los Altos, California
Source: ClinicalTrials.gov public record
Updated Nov 13, 2024 · Synced Sep 15, 2026, 10:50 AM EDT
Completed Phase 2 Interventional

Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome

NCT00004275
View directory record Official record
Conditions
Turner's Syndrome
Interventions
growth hormone, oxandrolone
Drug
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
10 Years to 14 Years · Female only
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 9, 2008 · Synced Sep 15, 2026, 10:50 AM EDT
Completed Phase 1Phase 2 Interventional

Phase I/II Randomized Study of Hydroxyurea With or Without Clotrimazole in Patients With Sickle Cell Anemia

NCT00004492
View directory record Official record
Conditions
Sickle Cell Anemia
Interventions
clotrimazole, hydroxyurea
Drug
Lead sponsor
University of North Carolina
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2001
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 24, 2015 · Synced Sep 15, 2026, 10:50 AM EDT
Completed Phase 1 Interventional

Seneca Valley Virus-001 and Cyclophosphamide in Treating Young Patients With Relapsed or Refractory Neuroblastoma, Rhabdomyosarcoma, or Rare Tumors With Neuroendocrine Features

NCT01048892
View directory record Official record
Conditions
Adrenocortical Carcinoma, Gastrointestinal Carcinoid Tumor, Kidney Cancer, Neuroblastoma, Retinoblastoma, Sarcoma
Interventions
Seneca Valley virus-001, cyclophosphamide, laboratory biomarker analysis, pharmacological study
Biological · Drug · Other
Lead sponsor
Children's Oncology Group
Network
Eligibility
3 Years to 21 Years
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2009
U.S. locations
18
States / cities
Birmingham, Alabama • Orange, California • San Francisco, California + 15 more
Source: ClinicalTrials.gov public record
Updated Jan 29, 2014 · Synced Sep 15, 2026, 10:50 AM EDT
Recruiting Phase 1Phase 2 Interventional

A Randomized Study of SPK-10001 Gene Therapy in Participants With Huntington's Disease

NCT06826612
View directory record Official record
Conditions
Huntington Disease
Interventions
SPK-10001, Placebo Surgery Control
Genetic · Other
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
25 Years to 65 Years
Enrollment
53 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2035
U.S. locations
5
States / cities
Boston, Massachusetts • Cincinnati, Ohio • Columbus, Ohio + 2 more
Source: ClinicalTrials.gov public record
Updated May 4, 2026 · Synced Sep 15, 2026, 10:50 AM EDT
Completed No phase listed Observational

Study of the Pathogenesis of Porphyria Cutanea Tarda

NCT00005103
View directory record Official record
Conditions
Porphyria Cutanea Tarda
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 15, 2026, 10:50 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders

NCT06839469
View directory record Official record
Conditions
Spinal Muscular Atrophy Type 3, Duchenne Muscular Dystrophy (DMD)
Interventions
Not listed
Lead sponsor
Columbia University
Other
Eligibility
5 Years and older
Enrollment
106 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2028
U.S. locations
3
States / cities
Palo Alto, California • Boston, Massachusetts • New York, New York
Source: ClinicalTrials.gov public record
Updated Apr 8, 2026 · Synced Sep 15, 2026, 10:50 AM EDT
Completed Phase 3 Interventional Results available

A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)

NCT02230566
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jul 29, 2020 · Synced Sep 15, 2026, 10:50 AM EDT
Completed No phase listed Observational

Developmental Phenomenology of Obsessive Compulsive Disorder and Tourette Syndrome in Children and Adolescents

NCT00004324
View directory record Official record
Conditions
Tourette Syndrome, Obsessive Compulsive Disorder
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
5 Years to 17 Years
Enrollment
90 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1989
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 15, 2026, 10:50 AM EDT
Not listed Phase 2 Interventional

Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis

NCT00004346
View directory record Official record
Conditions
Cerebrotendinous Xanthomatosis
Interventions
chenodeoxycholic acid, lovastatin
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1996
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 15, 2026, 10:50 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Genetic Study of Patients and Families With Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma of the Bone

NCT00007046
View directory record Official record
Conditions
Stenosis, Histiocytoma
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years to 90 Years
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2000
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 15, 2026, 10:50 AM EDT