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ClinicalTrials.gov public records Last synced May 21, 2026, 7:19 PM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Filters: Condition: Rare Diseases Clear all
Active, not recruiting No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
Neuromyelitis Optica, Neuromyelitis Optica Spectrum Disorder, Transverse Myelitis, Optic Neuritis
Interventions
Not listed
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
6 Years and older
Enrollment
150 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2030
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Jan 5, 2026 · Synced May 21, 2026, 7:19 PM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Hyperoxaluria, Cystinuria, Dent Disease, Lowe Syndrome, Adenine Phosphoribosyltransferase Deficiency
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
Not listed
Enrollment
220 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2026
U.S. locations
8
States / cities
Birmingham, Alabama • Jacksonville, Florida • Chicago, Illinois + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 5, 2025 · Synced May 21, 2026, 7:19 PM EDT
Completed No phase listed Observational
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
Started 2004
U.S. locations
2
States / cities
Bethesda, Maryland • Strasburg, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 30, 2026 · Synced May 21, 2026, 7:19 PM EDT
Recruiting Not applicable Interventional
View directory record Official record
Conditions
Recurrent CNS Tumors, Brain Cancer, Gliomas, IDH-wildtype Gliomas, IDH-mutant Gliomas, Rare CNS Tumor
Interventions
Tumor sample collection
Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
15 Years to 120 Years
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 31, 2026 · Synced May 21, 2026, 7:19 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers
View directory record Official record
Conditions
Parkinson Disease
Interventions
Glucose
Drug
Lead sponsor
National Institute of Mental Health (NIMH)
NIH
Eligibility
18 Years and older
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1998
U.S. locations
1
States / cities
Charlottesville, Virginia
Source: ClinicalTrials.gov public record
Updated Nov 30, 2005 · Synced May 21, 2026, 7:19 PM EDT
Recruiting No phase listed Observational
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
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2025
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 20, 2024 · Synced May 21, 2026, 7:19 PM EDT
Recruiting Not applicable Interventional
View directory record Official record
Conditions
Spinal Cord Injuries, Stroke, Paralysis, Tetraplegia, Paraplegia
Interventions
IST (Implanted Stimulator-Telemeter)
Device
Lead sponsor
Case Western Reserve University
Other
Eligibility
21 Years to 75 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2027
U.S. locations
2
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 14, 2025 · Synced May 21, 2026, 7:19 PM EDT
Recruiting No phase listed Observational
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 May 21, 2026, 7:19 PM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Cystinosis
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
La Jolla, California
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced May 21, 2026, 7:19 PM EDT
Completed No phase listed Observational Accepts healthy volunteers
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 May 21, 2026, 7:19 PM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Hyperaldosteronism
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced May 21, 2026, 7:19 PM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
Undiagnosed Disease, Rare Diseases
Interventions
Genetic test evaluation
Other
Lead sponsor
Mayo Clinic
Other
Eligibility
Not listed
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2026
U.S. locations
3
States / cities
Scottsdale, Arizona • Jacksonville, Florida • Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Dec 14, 2025 · Synced May 21, 2026, 7:19 PM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Rheumatic Disease
Interventions
Not listed
Lead sponsor
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
NIH
Eligibility
18 Years to 90 Years
Enrollment
350 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 6, 2026 · Synced May 21, 2026, 7:19 PM EDT
Completed Phase 3 Interventional Results available
View directory record Official record
Conditions
Bardet-Biedl Syndrome, POMC Deficiency Obesity, PCSK1 Deficiency Obesity, LEPR Deficiency Obesity
Interventions
Setmelanotide
Drug
Lead sponsor
Rhythm Pharmaceuticals, Inc.
Industry
Eligibility
2 Years to 5 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
3
States / cities
Aurora, Colorado • New York, New York • Marshfield, Wisconsin
Source: ClinicalTrials.gov public record
Updated Nov 26, 2024 · Synced May 21, 2026, 7:19 PM EDT
Completed No phase listed Observational
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 May 21, 2026, 7:19 PM EDT
Recruiting No phase listed Observational
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 May 21, 2026, 7:19 PM EDT
Completed Phase 1 Interventional
View directory record Official record
Conditions
Acute Renal Failure
Interventions
alpha-melanocyte stimulating hormone
Drug
Lead sponsor
University of Texas
Other
Eligibility
18 Years to 80 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2003
U.S. locations
2
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Mar 24, 2015 · Synced May 21, 2026, 7:19 PM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
High Grade Meningioma, Ependymoma, Medulloblastoma, PNET, Primary CNS Sarcoma
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
326 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2025
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 23, 2026 · Synced May 21, 2026, 7:19 PM EDT
Completed No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
FTLD, Progressive Supranuclear Palsy (PSP), Frontotemporal Dementia (FTD), Corticobasal Degeneration (CBD), PPA Syndrome, Behavioral Variant Frontotemporal Dementia (bvFTD), Semantic Variant Primary Progressive Aphasia (svPPA), Nonfluent Variant Primary Progressive Aphasia (nfvPPA), FTD With Amyotrophic Lateral Sclerosis (FTD/ALS), Amyotrophic Lateral Sclerosis (ALS), Oligosymptomatic PSP (oPSP), Corticobasal Syndrome (CBS)
Interventions
Not listed
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 85 Years
Enrollment
1,489 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2020
U.S. locations
15
States / cities
Birmingham, Alabama • Los Angeles, California • San Diego, California + 12 more
Source: ClinicalTrials.gov public record
Updated May 20, 2021 · Synced May 21, 2026, 7:19 PM EDT
Terminated No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
Usher Syndrome, Retinitis Pigmentosa
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1999
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced May 21, 2026, 7:19 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers
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 23, 2005 · Synced May 21, 2026, 7:19 PM EDT
Recruiting No phase listed Observational
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 8, 2026 · Synced May 21, 2026, 7:19 PM EDT
Recruiting No phase listed Observational
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 May 4, 2026 · Synced May 21, 2026, 7:19 PM EDT
Completed Phase 2 Interventional
View directory record Official record
Conditions
Aplastic Anemia
Interventions
anti-thymocyte globulin, cyclophosphamide, cyclosporine, mesna, methotrexate, methylprednisolone
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years to 55 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1995
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced May 21, 2026, 7:19 PM EDT