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ClinicalTrials.gov public records Last synced Oct 17, 2026, 11:36 AM EDT

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Showing 25–48 of 411 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Rare Disorder Clear all
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 24, 2005 · Synced Oct 17, 2026, 11:36 AM EDT
Completed Not applicable Interventional

Study of Recombinant Human Insulin-Like Growth Factor I in Patients With Severe Insulin Resistance

NCT00004419
View directory record Official record
Conditions
Insulin Resistance, Hyperglycemia
Interventions
insulin-like growth factor I
Drug
Lead sponsor
Beth Israel Deaconess Medical Center
Other
Eligibility
14 Years to 65 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2000
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 25, 2015 · Synced Oct 17, 2026, 11:36 AM EDT
Enrolling by invitation Not applicable Interventional

AI Echocardiographic Screening of Cardiac Amyloidosis

NCT06664866
View directory record Official record
Conditions
Cardiac Amyloidosis
Interventions
EchoNet-LVH Assessment
Diagnostic Test
Lead sponsor
Cedars-Sinai Medical Center
Other
Eligibility
22 Years and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
4
States / cities
Los Angeles, California • Palo Alto, California • Chicago, Illinois + 1 more
Source: ClinicalTrials.gov public record
Updated Jul 22, 2026 · Synced Oct 17, 2026, 11:36 AM EDT
Completed No phase listed Observational

The Longitudinal Evaluation of Autoimmune Pulmonary Alveolar Proteinosis

NCT03531996
View directory record Official record
Conditions
Autoimmune Pulmonary Alveolar Proteinosis
Interventions
Not listed
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Not listed
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 24, 2021 · Synced Oct 17, 2026, 11:36 AM EDT
Recruiting Phase 2Phase 3 Interventional

RAPA-501 Therapy for ALS

NCT04220190
View directory record Official record
Conditions
Amyotrophic Lateral Sclerosis
Interventions
RAPA-501 Autologous T stem cells
Biological
Lead sponsor
Rapa Therapeutics LLC
Industry
Eligibility
18 Years and older
Enrollment
41 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Sep 29, 2026 · Synced Oct 17, 2026, 11:36 AM EDT
Completed Not applicable Interventional

Study of Allogeneic Bone Marrow Transplantation Following Cyclophosphamide and Radiotherapy in Patients With Myelodysplastic Syndrome and Acute Leukemia Related to Fanconi's Anemia

NCT00005892
View directory record Official record
Conditions
Fanconi's Anemia, Myelodysplastic Syndromes, Leukemia, Nonlymphocytic, Acute, Leukemia, Lymphocytic, Acute
Interventions
cyclophosphamide, Allogeneic Bone Marrow Transplantation
Drug · Procedure
Lead sponsor
Fairview University Medical Center
Other
Eligibility
0 Years to 54 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 17, 2026, 11:36 AM EDT
Completed Phase 3 Interventional

A Trial to Assess Consumer Self-Selection and Use of Gabapentin for Occasional Sleeplessness in an Over-the-Counter Environment

NCT00659100
View directory record Official record
Conditions
Transient Insomnia
Interventions
Gabapentin
Drug
Lead sponsor
Pfizer's Upjohn has merged with Mylan to form Viatris Inc.
Industry
Eligibility
18 Years and older
Enrollment
1,254 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2007
U.S. locations
35
States / cities
Anaheim, California • Bonita, California • Fallbrook, California + 29 more
Source: ClinicalTrials.gov public record
Updated Feb 2, 2021 · Synced Oct 17, 2026, 11:36 AM EDT
Not listed No phase listed Observational

Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions

NCT02365376
View directory record Official record
Conditions
Rare Genetic Disorders
Interventions
Not listed
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Not listed
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2013
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Feb 18, 2015 · Synced Oct 17, 2026, 11:36 AM EDT
Completed Not applicable Interventional

Diagnostic Study of Adrenal Cortical Function in Children With Septic Shock

NCT00005890
View directory record Official record
Conditions
Septic Shock
Interventions
corticotropin
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
1 Month to 18 Years
Enrollment
56 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1996
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 17, 2026, 11:36 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 23, 2020 · Synced Oct 17, 2026, 11:36 AM EDT
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 15, 2017 · Synced Oct 17, 2026, 11:36 AM EDT
Completed Phase 2 Interventional Results available

Alvelestat (MPH966) for the Treatment of ALpha-1 ANTitrypsin Deficiency

NCT03679598
View directory record Official record
Conditions
Alpha-1 Antitrypsin Deficiency (AATD), Pi*ZZ, Pi*SZ, Pi*Null, Another Rare Phenotype/Genotype Known to be Associated With Either Low or Functionally Impaired AAT Including F or I Mutations, Emphysema or COPD
Interventions
Alvelestat (MPH966), Placebo
Drug · Other
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
18 Years to 80 Years
Enrollment
63 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2023
U.S. locations
10
States / cities
Birmingham, Alabama • Los Angeles, California • Denver, Colorado + 7 more
Source: ClinicalTrials.gov public record
Updated Aug 20, 2024 · Synced Oct 17, 2026, 11:36 AM EDT
Completed Not applicable Interventional

Study of Clotrimazole and Hydroxyurea in Patients With Sickle Cell Syndromes

NCT00004404
View directory record Official record
Conditions
Sickle Cell Anemia
Interventions
clotrimazole, hydroxyurea
Drug
Lead sponsor
Boston Children's Hospital
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1997 – 2002
U.S. locations
2
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 25, 2015 · Synced Oct 17, 2026, 11:36 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Longitudinal Studies of Patient With FPDMM

NCT03854318
View directory record Official record
Conditions
Inherited Hematological Diseases, Rare Diseases, FPDMM
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Day to 100 Years
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2099
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 9, 2026 · Synced Oct 17, 2026, 11:36 AM EDT
Completed Not applicable Interventional Results available

FACE for Children With Rare Diseases

NCT04855734
View directory record Official record
Conditions
Rare Diseases
Interventions
FAmily CEntered (FACE) pACP Intervention
Behavioral
Lead sponsor
Children's National Research Institute
Other
Eligibility
1 Year to 99 Years
Enrollment
42 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated May 4, 2025 · Synced Oct 17, 2026, 11:36 AM EDT
Not listed No phase listed Observational

Genetic Study of Insulin-Like Growth Factor-I Receptor Mutations in Patients With Intrauterine Growth Retardation

NCT00005105
View directory record Official record
Conditions
Intrauterine Growth Retardation
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
18 Months to 18 Years
Enrollment
75 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1997
U.S. locations
5
States / cities
Atlanta, Georgia • Indianapolis, Indiana • New Hyde Park, New York + 2 more
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 17, 2026, 11:36 AM EDT
Recruiting No phase listed Observational

Longitudinal Study of Neurodegenerative Disorders

NCT03333200
View directory record Official record
Conditions
MLD, Krabbe Disease, ALD, MPS I, MPS II, MPS III, Vanishing White Matter Disease, GM3 Gangliosidosis, PKAN, Tay-Sachs Disease, NP Deficiency, Osteopetrosis, Alpha-Mannosidosis, Sandhoff Disease, Niemann-Pick Diseases, MPS IV, Gaucher Disease, GAN, GM1 Gangliosidoses, Morquio Disease, S-Adenosylhomocysteine Hydrolase Deficiency, Batten Disease, Pelizaeus-Merzbacher Disease, Leukodystrophy, Lysosomal Storage Diseases, Purine Nucleoside Phosphorylase Deficiency, Multiple Sulfatase Deficiency Disease
Interventions
Palliative Care, Hematopoetic Stem Cell Transplantation
Other · Biological
Lead sponsor
University of Pittsburgh
Other
Eligibility
Not listed
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2035
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 9, 2026 · Synced Oct 17, 2026, 11:36 AM EDT
Terminated No phase listed Observational

Long Term Follow-up (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIX

NCT04628871
View directory record Official record
Conditions
Hemophilia B, Mucopolysaccharidosis I, Mucopolysaccharidosis II
Interventions
SB-318, SB-913, SB-FIX
Biological
Lead sponsor
Sangamo Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2026
U.S. locations
5
States / cities
Oakland, California • Chicago, Illinois • New York, New York + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 13, 2026 · Synced Oct 17, 2026, 11:36 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Measurement of Outcome of Surgical Treatment in Patients With Acromegaly

NCT00005100
View directory record Official record
Conditions
Acromegaly
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
20 Years to 75 Years
Enrollment
165 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1999
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 17, 2026, 11:36 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 30, 2026 · Synced Oct 17, 2026, 11:36 AM EDT
Completed No phase listed Observational

Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank

NCT02706639
View directory record Official record
Conditions
Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
1 Day to 85 Years
Enrollment
305 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2025
U.S. locations
3
States / cities
Bethesda, Maryland • St Louis, Missouri • Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Aug 28, 2026 · Synced Oct 17, 2026, 11:36 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic Sclerosis

NCT00006393
View directory record Official record
Conditions
Systemic Sclerosis
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
80 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1998
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 17, 2026, 11:36 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System

NCT01143454
View directory record Official record
Conditions
Metabolic Disease, Obesity, Li-Fraumeni Syndrome, Cardiomyopathy, Atherosclerosis, Inflammatory Disease
Interventions
NSR IDE-MRI: Research pulse sequences
Device
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
1 Year to 100 Years
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2010
U.S. locations
3
States / cities
Washington D.C., District of Columbia • Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 17, 2026, 11:36 AM EDT
Not listed Not applicable Interventional

Randomized Study of Testosterone and Progressive Resistance Exercise in Men With Burn Injury

NCT00006129
View directory record Official record
Conditions
Burns
Interventions
testosterone
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
18 Years to 50 Years · Male only
Enrollment
60 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 24, 2005 · Synced Oct 17, 2026, 11:36 AM EDT