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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Rare Genetic Disorders Clear all
Completed Not applicable Interventional

Decompression Coring Versus Conservative Therapy in Patients With Avascular Necrosis of the Hip Related to Sickle Cell Disease

NCT00006130
View directory record Official record
Conditions
Bone Avascular Necrosis, Sickle Cell Anemia
Interventions
Core decompression
Procedure
Lead sponsor
UCSF Benioff Children's Hospital Oakland
Other
Eligibility
10 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
2
States / cities
Oakland, California • Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Feb 14, 2017 · Synced Sep 26, 2026, 2:02 AM EDT
Completed Not applicable Interventional

Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders

NCT00005893
View directory record Official record
Conditions
Neutropenia, Sickle Cell Anemia, Thalassemia Major, Red-Cell Aplasia, Pure
Interventions
anti-thymocyte globulin, busulfan, cyclophosphamide, Bone marrow transplantation
Drug · Procedure
Lead sponsor
Fairview University Medical Center
Other
Eligibility
0 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 26, 2026, 2:02 AM EDT
Recruiting No phase listed Observational

Genome Medical Sequencing for Gene Discovery

NCT01087320
View directory record Official record
Conditions
Intellectual Disabilities, Congenital Anomaly, Rare Disorders
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
4 Weeks to 99 Years
Enrollment
2,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2010
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 21, 2026 · Synced Sep 26, 2026, 2:02 AM EDT
Recruiting No phase listed Observational

Clinical Study To Further Evaluate The Efficacy Of Dabrafenib Plus Trametinib In Patients With Rare BRAF V600E Mutation-Positive Unresectable or Metastatic Solid Tumors

NCT05868629
View directory record Official record
Conditions
Rare Unresectable or Metastatic BRAF V600E Mutation-positive Solid Tumors
Interventions
Non-investigational
Other
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
1 Year to 100 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
8
States / cities
Torrance, California • Denver, Colorado • Washington D.C., District of Columbia + 5 more
Source: ClinicalTrials.gov public record
Updated Mar 31, 2026 · Synced Sep 26, 2026, 2:02 AM EDT
Completed Not applicable Interventional

Randomized Study of Alendronate in Adult Patients With Cystic Fibrosis Related Osteoporosis

NCT00004489
View directory record Official record
Conditions
Osteoporosis, Cystic Fibrosis
Interventions
alendronate sodium, calcium carbonate, cholecalciferol
Drug
Lead sponsor
University of North Carolina
Other
Eligibility
18 Years to 45 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2002
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 24, 2015 · Synced Sep 26, 2026, 2:02 AM EDT
Completed Phase 2 Interventional Results available

Open-Label PoC Trial of Ganaxolone in Children With PCDH19 Female Pediatric Epilepsy and Other Rare Genetic Epilepsies

NCT02358538
View directory record Official record
Conditions
Epilepsy
Interventions
Ganaxolone
Drug
Lead sponsor
Marinus Pharmaceuticals
Industry
Eligibility
2 Years to 18 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
9
States / cities
Phoenix, Arizona • Sacramento, California • San Francisco, California + 6 more
Source: ClinicalTrials.gov public record
Updated Mar 20, 2023 · Synced Sep 26, 2026, 2:02 AM EDT
Completed No phase listed Observational

Genetic Study of Familial Epilepsy

NCT00006059
View directory record Official record
Conditions
Epilepsy
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
898 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1997
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 26, 2026, 2:02 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

NCT00369421
View directory record Official record
Conditions
Arterial Calcification Due to Deficiency of CD73
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 115 Years
Enrollment
4,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1978
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 21, 2026 · Synced Sep 26, 2026, 2:02 AM EDT
Completed No phase listed Observational

Genetic Studies in the Amish and Mennonites

NCT00359580
View directory record Official record
Conditions
Genetic Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
157 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2014
U.S. locations
2
States / cities
Bethesda, Maryland • Strasburg, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 2, 2026 · Synced Sep 26, 2026, 2:02 AM EDT
Completed Phase 2 Interventional

Phase II Study of Arginine Butyrate With or Without Epoetin Alfa in Patients With Thalassemia Intermedia

NCT00006136
View directory record Official record
Conditions
Beta-Thalassemia
Interventions
arginine butyrate, epoetin alfa
Drug
Lead sponsor
Boston University
Other
Eligibility
3 Years and older
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
6
States / cities
Oakland, California • New Haven, Connecticut • Bethesda, Maryland + 2 more
Source: ClinicalTrials.gov public record
Updated Nov 7, 2005 · Synced Sep 26, 2026, 2:02 AM EDT
Completed No phase listed Observational

Rare Genetic Disorders of the Breathing Airways

NCT00323167
View directory record Official record
Conditions
Kartagener Syndrome, Cystic Fibrosis, Pseudohypoaldosteronism, Primary Ciliary Dyskinesia
Interventions
Not listed
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
Not listed
Enrollment
367 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2012
U.S. locations
7
States / cities
Palo Alto, California • Denver, Colorado • Bethesda, Maryland + 3 more
Source: ClinicalTrials.gov public record
Updated Aug 9, 2022 · Synced Sep 26, 2026, 2:02 AM EDT
Terminated Phase 2 Interventional Results available

Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy

NCT00004418
View directory record Official record
Conditions
Adrenoleukodystrophy
Interventions
glyceryl trierucate/glyceryl trioleate
Drug
Lead sponsor
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Other
Eligibility
18 Months to 8 Years · Male only
Enrollment
126 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2014
U.S. locations
2
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 22, 2020 · Synced Sep 26, 2026, 2:02 AM EDT
Completed Phase 2 Interventional

Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias

NCT00004396
View directory record Official record
Conditions
Porphyria
Interventions
heme arginate, tin mesoporphyrin
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
18 Years and older
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1997
U.S. locations
2
States / cities
New York, New York • Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 26, 2026, 2:02 AM EDT
Recruiting No phase listed Observational

The KidneyCARE (Community Access to Research Equity) Study

NCT05497518
View directory record Official record
Conditions
Chronic Kidney Disease, Dialysis, Kidney Transplant
Interventions
Observational study - registry
Other
Lead sponsor
Tufts Medical Center
Other
Eligibility
18 Years to 120 Years
Enrollment
50,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2070
U.S. locations
1
States / cities
Danville, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 12, 2025 · Synced Sep 26, 2026, 2:02 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Gene Therapy Communication: Use of a Needs Assessment to Drive Decision-AIDS for Gene Therapy for Rare Diseases (GENETX)

NCT05810181
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Interview
Other
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
8 Years and older
Enrollment
145 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2027
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Aug 9, 2026 · Synced Sep 26, 2026, 2:02 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

NCT02985710
View directory record Official record
Conditions
Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
Interventions
Sudoscan, Skin biopsy, QSART
Device · Procedure
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
8 Years to 70 Years
Enrollment
102 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2020
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 6, 2021 · Synced Sep 26, 2026, 2:02 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 26, 2026, 2:02 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 26, 2026, 2:02 AM EDT
Recruiting No phase listed Observational

Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies

NCT03056794
View directory record Official record
Conditions
Pyruvate Dehydrogenase Complex Deficiency Disease
Interventions
No intervention
Other
Lead sponsor
University of Pittsburgh
Other
Eligibility
Not listed
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2026
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 12, 2026 · Synced Sep 26, 2026, 2:02 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 26, 2026, 2:02 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Study of Skeletal Disorders

NCT05031507
View directory record Official record
Conditions
Skeletal Disorders
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
2 Months to 100 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 19, 2026 · Synced Sep 26, 2026, 2:02 AM EDT
Terminated Phase 3 Interventional Accepts healthy volunteers Results available

A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2

NCT04221451
View directory record Official record
Conditions
Tay-Sachs Disease, Sandhoff Disease
Interventions
venglustat GZ402671, placebo
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
2 Years and older
Enrollment
75 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2024
U.S. locations
5
States / cities
Los Angeles, California • Atlanta, Georgia • Bethesda, Maryland + 2 more
Source: ClinicalTrials.gov public record
Updated Jan 27, 2026 · Synced Sep 26, 2026, 2:02 AM EDT
Not listed Phase 1 Interventional Accepts healthy volunteers

Study of Treatment and Metabolism in Patients With Urea Cycle Disorders

NCT00004307
View directory record Official record
Conditions
Amino Acid Metabolism, Inborn Errors
Interventions
Protein and calorie controlled diet, Ornithine transcarbamylase vector
Behavioral · Genetic
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
6 Months to 64 Years
Enrollment
66 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1999
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 26, 2026, 2:02 AM EDT
Completed No phase listed Observational

Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children

NCT01938014
View directory record Official record
Conditions
Mucopolysaccharidosis Type I (MPS I), Mucopolysaccharidosis Type II (MPS II), Mucopolysaccharidosis Type III (MPS III), Mucopolysaccharidosis Type VI (MPS VI), Krabbe Disease
Interventions
Not listed
Lead sponsor
University of Chicago
Other
Eligibility
1 Day to 18 Years
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2016
U.S. locations
3
States / cities
Chicago, Illinois • Minneapolis, Minnesota • Buffalo, New York
Source: ClinicalTrials.gov public record
Updated Oct 3, 2019 · Synced Sep 26, 2026, 2:02 AM EDT