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ClinicalTrials.gov public records Last synced Oct 17, 2026, 10:45 AM EDT

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Showing 1–24 of 411 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Rare Disorder Clear all
Recruiting No phase listed Observational

A National Registry For Pulmonary Alveolar Proteinosis

NCT02461615
View directory record Official record
Conditions
Pulmonary Alveolar Proteinosis
Interventions
Not listed
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Not listed
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2030
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Mar 17, 2026 · Synced Oct 17, 2026, 10:45 AM EDT
Recruiting Phase 1Phase 2 Interventional

A Study of BH-30643 in Subjects With Locally Advanced or Metastatic NSCLC Harboring EGFR and/or HER2 Mutations

NCT06706076
View directory record Official record
Conditions
NSCLC (Advanced Non-small Cell Lung Cancer)
Interventions
BH-30643, BH-30643 combo therapy with Carboplatin/Pemetrexed
Drug
Lead sponsor
BlossomHill Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
675 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2029
U.S. locations
24
States / cities
Phoenix, Arizona • Irvine, California • La Jolla, California + 18 more
Source: ClinicalTrials.gov public record
Updated Aug 5, 2026 · Synced Oct 17, 2026, 10:45 AM EDT
Not listed Not applicable Interventional

Gluconeogenesis in Very Low Birth Weight Infants Who Are Receiving Nutrition By Intravenous Infusion

NCT00005889
View directory record Official record
Conditions
Infant, Low Birth Weight, Hyperglycemia
Interventions
alanine, amino acids, glucagon, glucose, glutamine, glycerol, insulin, leucine, lipids, urea
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
4 Days to 6 Days
Enrollment
96 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 17, 2026, 10:45 AM EDT
Completed No phase listed Observational

CAPTURE 2 Post-Marketing Registry

NCT00302237
View directory record Official record
Conditions
Carotid Artery Disease
Interventions
RX ACCULINK, RX ACCUNET Embolic Protection System
Device
Lead sponsor
Abbott Medical Devices
Industry
Eligibility
Not listed
Enrollment
6,426 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2010
U.S. locations
1
States / cities
Santa Clara, California
Source: ClinicalTrials.gov public record
Updated Dec 13, 2012 · Synced Oct 17, 2026, 10:45 AM EDT
Completed Phase 1 Interventional

Phase I Pilot Study of Total-Body Irradiation, Anti-Thymocyte Globulin and Cyclophosphamide Followed By Syngeneic or Autologous Peripheral Blood Stem Cell Transplantation in Patients With Multiple Sclerosis

NCT00014755
View directory record Official record
Conditions
Multiple Sclerosis
Interventions
anti-thymocyte globulin, cyclophosphamide, filgrastim, prednisone, peripheral blood stem cell transplantation, irradiation
Drug · Procedure
Lead sponsor
Fred Hutchinson Cancer Center
Other
Eligibility
18 Years to 60 Years
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1997
U.S. locations
6
States / cities
Duarte, California • Denver, Colorado • St Louis, Missouri + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 17, 2026, 10:45 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas

NCT07102966
View directory record Official record
Conditions
Rare Diseases
Interventions
Rapid whole genome sequencing
Genetic
Lead sponsor
Baylor College of Medicine
Other
Eligibility
1 Day to 90 Days
Enrollment
410 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2029
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Oct 1, 2026 · Synced Oct 17, 2026, 10:45 AM EDT
Completed Not applicable Interventional

Study of NTBC for Tyrosinemia I

NCT00004443
View directory record Official record
Conditions
Tyrosinemia I
Interventions
NTBC
Drug
Lead sponsor
University of Washington
Other
Eligibility
Up to 17 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2006
U.S. locations
2
States / cities
Portland, Oregon • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Mar 25, 2015 · Synced Oct 17, 2026, 10:45 AM EDT
Not listed No phase listed Observational

International Registry for Severe Chronic Neutropenia

NCT00004342
View directory record Official record
Conditions
Neutropenia
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
3 Months and older
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1994
U.S. locations
5
States / cities
Boston, Massachusetts • Worcester, Massachusetts • Ann Arbor, Michigan + 2 more
Source: ClinicalTrials.gov public record
Updated Oct 22, 2020 · Synced Oct 17, 2026, 10:45 AM EDT
Terminated Phase 3 Interventional Results available

A Trial For Participants With Ewing's Sarcoma Treated With Vigil in Combination With Irinotecan and Temozolomide

NCT03495921
View directory record Official record
Conditions
Ewing Sarcoma, Ewing Family of Tumors, Ewing's Tumor Metastatic, Ewing's Sarcoma Metastatic, Ewing's Tumor Recurrent, Rare Diseases, Sarcoma, Neoplasms, Connective and Soft Tissue, Neoplasms by Histologic Type, Neoplasms, Bone Tissue, Neoplasms, Connective Tissue, Sarcoma, Ewing, Neoplasms
Interventions
Vigil, Irinotecan, Temozolomide
Biological · Drug
Lead sponsor
Gradalis, Inc.
Industry
Eligibility
2 Years and older
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2022
U.S. locations
15
States / cities
Little Rock, Arkansas • Los Angeles, California • Jacksonville, Florida + 12 more
Source: ClinicalTrials.gov public record
Updated Apr 26, 2023 · Synced Oct 17, 2026, 10:45 AM EDT
Recruiting No phase listed Observational

Rare Glycogen Storage Diseases Natural History Study

NCT06795152
View directory record Official record
Conditions
Glycogen Storage Disease, GSD Type 0A, GSD Type 0B, GSD VII, Tarui Disease, GSD X, GSD XII, GSD XIII, GSD XV, PGBM2, PRKAG2, Danon Disease, Polyglucosan Body Myopathy Type 1, Polyglucosan Body Myopathy Type 2, RBCK1 Deficiency
Interventions
No intervention
Other
Lead sponsor
Duke University
Other
Eligibility
0 Years to 90 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2034
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jan 7, 2026 · Synced Oct 17, 2026, 10:45 AM EDT
Completed Not applicable Interventional

Sincalide (Cholecystokinin Octapeptide) Versus Placebo in Neonates at High Risk for Developing Parenteral Nutrition Associated Cholestasis

NCT00004414
View directory record Official record
Conditions
Cholestasis
Interventions
sincalide
Drug
Lead sponsor
University of Michigan
Other
Eligibility
Up to 30 Days
Enrollment
252 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1997 – 2002
U.S. locations
6
States / cities
Baltimore, Maryland • Ann Arbor, Michigan • Rochester, New York + 3 more
Source: ClinicalTrials.gov public record
Updated Mar 25, 2015 · Synced Oct 17, 2026, 10:45 AM EDT
Withdrawn No phase listed Observational

Finding Genes for Rare Diseases

NCT02724995
View directory record Official record
Conditions
Rare Diseases
Interventions
Not listed
Lead sponsor
University of Kentucky
Other
Eligibility
1 Minute to 101 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2021
U.S. locations
1
States / cities
Lexington, Kentucky
Source: ClinicalTrials.gov public record
Updated Oct 26, 2017 · Synced Oct 17, 2026, 10:45 AM EDT
Recruiting No phase listed Observational

CCHS Secure Health-hub Advancing Research Efforts (CCHS SHARE)

NCT06554275
View directory record Official record
Conditions
Congenital Central Hypoventilation Syndrome
Interventions
Not listed
Lead sponsor
Ann & Robert H Lurie Children's Hospital of Chicago
Other
Eligibility
Not listed
Enrollment
125 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Jul 16, 2025 · Synced Oct 17, 2026, 10:45 AM EDT
Terminated No phase listed Observational

Study of Genotype and Phenotype in Patients With Alpha 1-Antitrypsin Deficiency

NCT00005098
View directory record Official record
Conditions
Alpha 1-Antitrypsin Deficiency
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
160 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 17, 2026, 10:45 AM EDT
Terminated No phase listed Observational

Kidney Information Network for Disease Research and Education

NCT03321604
View directory record Official record
Conditions
ESRD, Fabry Disease, Rare Diseases, Kidney Diseases, End Stage Renal Disease, Genetic Diseases, X-Linked
Interventions
Not listed
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years to 65 Years
Enrollment
338 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Feb 24, 2021 · Synced Oct 17, 2026, 10:45 AM EDT
Completed No phase listed Observational

Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes

NCT00004351
View directory record Official record
Conditions
Williams Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Shprintzen Syndrome, Smith-Magenis Syndrome, DiGeorge Syndrome, Chromosome Abnormalities
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
0 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 17, 2026, 10:45 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network

NCT02450851
View directory record Official record
Conditions
Genetic Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 100 Years
Enrollment
20,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2099
U.S. locations
33
States / cities
Birmingham, Alabama • Huntsville, Alabama • Los Angeles, California + 21 more
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 17, 2026, 10:45 AM EDT
Completed Not applicable Interventional

Study of Allogeneic Bone Marrow Transplantation Following Cyclophosphamide and Radiotherapy in Patients With Fanconi's Anemia

NCT00005891
View directory record Official record
Conditions
Fanconi's Anemia
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, 10:45 AM EDT
Not listed Phase 2 Interventional

Phase II Pilot Study to Compare the Bioavailability of Buffered, Enteric-Coated Ursodiol With Unmodified Ursodiol for Chronic Cholestatic Liver Disease and Cystic Fibrosis-Associated Liver Disease

NCT00004315
View directory record Official record
Conditions
Cystic Fibrosis, Gastrointestinal Diseases, Cholestasis
Interventions
ursodiol
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
4 Months and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1995
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 17, 2026, 10:45 AM EDT
Recruiting Not applicable Interventional

Evaluation of an Advanced Lower Extremity Neuroprostheses

NCT00623389
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 Jul 10, 2026 · Synced Oct 17, 2026, 10:45 AM EDT
Completed Phase 2 Interventional

Phase II Study of High-Dose Cyclophosphamide in Patients With Refractory Pemphigus

NCT00010413
View directory record Official record
Conditions
Pemphigus
Interventions
cyclophosphamide, filgrastim
Drug
Lead sponsor
Johns Hopkins University
Other
Eligibility
18 Years to 70 Years
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 2, 2008 · Synced Oct 17, 2026, 10:45 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 5, 2025 · Synced Oct 17, 2026, 10:45 AM EDT
Not listed No phase listed Observational

Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation

NCT00005900
View directory record Official record
Conditions
I Cell Disease, Fucosidosis, Globoid Cell Leukodystrophy, Adrenoleukodystrophy, Mannosidosis, Niemann-Pick Disease, Pulmonary Complications, Mucopolysaccharidosis I, Mucopolysaccharidosis VI, Metachromatic Leukodystrophy, Gaucher's Disease, Wolman Disease
Interventions
Not listed
Lead sponsor
Fairview University Medical Center
Other
Eligibility
0 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 17, 2026, 10:45 AM EDT