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ClinicalTrials.gov public records Last synced Oct 17, 2026, 6:26 PM EDT

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Showing 145–168 of 411 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Rare Disorder Clear all
Completed No phase listed Observational

Identifying and Genotyping Homozygous Familial Hypercholesterolemia (HoFH) Patients

NCT04148001
View directory record Official record
Conditions
Homozygous Familial Hypercholesterolemia (HoFH)
Interventions
Not listed
Lead sponsor
REGENXBIO Inc.
Industry
Eligibility
18 Years and older
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
1
States / cities
Boca Raton, Florida
Source: ClinicalTrials.gov public record
Updated Feb 2, 2021 · Synced Oct 17, 2026, 6:26 PM EDT
Completed Phase 2 Interventional

Phase II Randomized Study of Physiologic Testosterone Replacement in Premenopausal, HIV-Positive Women

NCT00004400
View directory record Official record
Conditions
HIV Infections, Cachexia
Interventions
testosterone
Drug
Lead sponsor
Charles Drew University of Medicine and Science
Other
Eligibility
18 Years to 50 Years · Female only
Enrollment
56 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1997 – 2001
U.S. locations
3
States / cities
Los Angeles, California • Torrance, California • St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Mar 25, 2015 · Synced Oct 17, 2026, 6:26 PM EDT
Recruiting No phase listed Observational

A Multi-Center Natural History of Urothelial Cancer and Rare Genitourinary Tract Malignancies

NCT04923178
View directory record Official record
Conditions
Urothelial Cancer, Bladder Cancer, Genitourinary Cancer, Urogenital Neoplasms, Urogenital Cancer
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
1,100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2042
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 17, 2026, 6:26 PM EDT
Completed Phase 2 Interventional

A 12-week Study Treating Participants Who Have alpha1-antitrypsin-related COPD With Alvelestat (MPH966) or Placebo.

NCT03636347
View directory record Official record
Conditions
Alpha 1-Antitrypsin Deficiency, Emphysema, COPD
Interventions
Placebo Oral Tablet, Alvelestat oral tablet - dose 1, Alvelestat oral tablet - dose 2
Drug
Lead sponsor
Mereo BioPharma
Industry
Eligibility
18 Years to 75 Years
Enrollment
99 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2022
U.S. locations
4
States / cities
Birmingham, Alabama • Los Angeles, California • Sacramento, California + 1 more
Source: ClinicalTrials.gov public record
Updated Apr 14, 2022 · Synced Oct 17, 2026, 6:26 PM EDT
Completed Phase 2 Interventional

Phase II Randomized Study of the Effects of Growth Hormone on Children and Adolescents on Maintenance Dialysis

NCT00004340
View directory record Official record
Conditions
Renal Osteodystrophy, End Stage Renal Disease
Interventions
calcitriol, growth hormone
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
1 Year to 18 Years
Enrollment
109 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 24, 2005 · Synced Oct 17, 2026, 6:26 PM EDT
Completed Phase 2 Interventional

Phase II Study of Growth Hormone in Children With Cystic Fibrosis

NCT00016445
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
growth hormone
Drug
Lead sponsor
University of Utah
Other
Eligibility
5 Years to 12 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2001
U.S. locations
9
States / cities
Phoenix, Arizona • Orange, California • Indianapolis, Indiana + 6 more
Source: ClinicalTrials.gov public record
Updated Sep 9, 2008 · Synced Oct 17, 2026, 6:26 PM EDT
Not listed No phase listed Observational

Study of the Approximate Entropy of Adrenocorticotropic Hormone and Cortisol Secretion in Patients With Head Injury

NCT00006270
View directory record Official record
Conditions
Brain Injury, Craniocerebral Trauma
Interventions
cosyntropin, metyrapone
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
20 Years to 35 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1998
U.S. locations
2
States / cities
Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 17, 2026, 6:26 PM EDT
Not listed Not applicable Interventional

Study of Allogeneic Bone Marrow and T-Cell Depleted, CD34+ Peripheral Blood Stem Cell Transplantation in Patients With Aplastic Anemia

NCT00017654
View directory record Official record
Conditions
Graft Versus Host Disease, Aplastic Anemia
Interventions
anti-thymocyte globulin, cyclophosphamide, cyclosporine, methylprednisolone, Allogeneic Bone Marrow Transplantation
Drug · Procedure
Lead sponsor
Northwestern Memorial Hospital
Other
Eligibility
15 Years to 55 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2001
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 17, 2026, 6:26 PM EDT
Terminated Phase 2 Interventional Results available

Study of Pasireotide in Patients With Rare Tumors of Neuroendocrine Origin

NCT00958841
View directory record Official record
Conditions
Pancreatic Neoplasm, Pituitary Neoplasm, Nelson Syndrome, Ectopic ACTH Syndrome
Interventions
pasireotide LAR
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
118 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2015
U.S. locations
6
States / cities
Los Angeles, California • Stanford, California • Boston, Massachusetts + 2 more
Source: ClinicalTrials.gov public record
Updated Jul 26, 2016 · Synced Oct 17, 2026, 6:26 PM EDT
Completed No phase listed Observational

Natural Disease Progression in Participants With Choroideremia

NCT04795206
View directory record Official record
Conditions
Choroideremia
Interventions
No Intervention
Other
Lead sponsor
Biogen
Industry
Eligibility
10 Years and older
Enrollment
1,178 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2021
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Sep 8, 2021 · Synced Oct 17, 2026, 6:26 PM EDT
Completed Phase 3 Interventional

Phase III Randomized Study of Cyclophosphamide With or Without Antithymocyte Globulin Before Bone Marrow Transplantation in Patients With Aplastic Anemia

NCT00004474
View directory record Official record
Conditions
Aplastic Anemia
Interventions
Anti-thymocyte globulin, Cyclophosphamide, Bone marrow transplantation
Drug · Procedure
Lead sponsor
Roswell Park Cancer Institute
Other
Eligibility
Up to 59 Years
Enrollment
224 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2007
U.S. locations
4
States / cities
Buffalo, New York • Houston, Texas • Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Mar 12, 2018 · Synced Oct 17, 2026, 6:26 PM EDT
Completed Phase 2 Interventional Results available

A Study Osimertinib in Patients With Stage 4 Non-small Cell Lung Cancer With Uncommon EGFR Mutations

NCT03434418
View directory record Official record
Conditions
Non Small Cell Lung Cancer
Interventions
osimertinib
Drug
Lead sponsor
Duke University
Other
Eligibility
18 Years and older
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2022
U.S. locations
3
States / cities
Durham, North Carolina • Columbus, Ohio • Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 17, 2023 · Synced Oct 17, 2026, 6:26 PM 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 20, 2026 · Synced Oct 17, 2026, 6:26 PM 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 4, 2019 · Synced Oct 17, 2026, 6:26 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Natural History, Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic Disease

NCT02504879
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
Accepts healthy volunteers
Timeline
2015 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 2, 2026 · Synced Oct 17, 2026, 6:26 PM EDT
Recruiting No phase listed Observational

Rare Kidney Stone Consortium Biobank

NCT02026388
View directory record Official record
Conditions
Primary Hyperoxaluria, Dent Disease, APRT Deficiency, Cystinuria
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
Not listed
Enrollment
2,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2030
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Jul 22, 2026 · Synced Oct 17, 2026, 6:26 PM EDT
Completed Not applicable Interventional

Implementation and Evaluation of a Rare Disease Algorithm to Identify Persons at Risk of Gaucher Disease Using Data From Electronic Health Records (EHRs) in the United States (Project Searchlight)

NCT05908656
View directory record Official record
Conditions
Gaucher Disease
Interventions
Investigational procedure
Procedure
Lead sponsor
Sanofi
Industry
Eligibility
Not listed
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024
U.S. locations
3
States / cities
Gainesville, Florida • New York, New York • Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Nov 19, 2024 · Synced Oct 17, 2026, 6:26 PM EDT
Completed Not applicable Interventional

Post-Approval Study of the Guidant Carotid Stent Systems and Embolic Protection Systems: CAPTURE

NCT00180492
View directory record Official record
Conditions
Atherosclerotic Disease, Carotid
Interventions
RX ACCULINK(TM) Carotid Stent System and RX ACCUNET(TM) Embolic Protection System
Device
Lead sponsor
Abbott Medical Devices
Industry
Eligibility
Not listed
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2007
U.S. locations
1
States / cities
Santa Clara, California
Source: ClinicalTrials.gov public record
Updated Oct 29, 2008 · Synced Oct 17, 2026, 6:26 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Genetics of Inherited Eye Disease

NCT02471287
View directory record Official record
Conditions
Genetic Eye Disease
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
1 Year to 120 Years
Enrollment
1,500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 17, 2026, 6:26 PM EDT
Recruiting Phase 4 Interventional

Dabrafenib and/or Trametinib Rollover Study

NCT03340506
View directory record Official record
Conditions
Melanoma, Non Small Cell Lung Cancer, Solid Tumor, Rare Cancers, High Grade Glioma
Interventions
dabrafenib, trametinib
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years to 100 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2032
U.S. locations
4
States / cities
Scottsdale, Arizona • Bethesda, Maryland • Columbus, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Oct 14, 2026 · Synced Oct 17, 2026, 6:26 PM EDT
Terminated Phase 2 Interventional

Durvalumab in Combination With Tremelimumab in Subjects With Advanced Rare Solid Tumors

NCT02938793
View directory record Official record
Conditions
Cancer, Rare Disease
Interventions
Durvalumab, Tremelimumab
Drug
Lead sponsor
Prisma Health-Upstate
Other
Eligibility
18 Years and older
Enrollment
92 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2025
U.S. locations
1
States / cities
Greenville, South Carolina
Source: ClinicalTrials.gov public record
Updated Sep 23, 2025 · Synced Oct 17, 2026, 6:26 PM EDT
Completed Not applicable Interventional

Randomized Study of Human Parathyroid Hormone in Middle-Aged Men With Idiopathic Osteoporosis

NCT00004406
View directory record Official record
Conditions
Osteoporosis
Interventions
human parathyroid hormone
Drug
Lead sponsor
Columbia University
Other
Eligibility
29 Years to 67 Years · Male only
Enrollment
36 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 Mar 25, 2015 · Synced Oct 17, 2026, 6:26 PM EDT
Completed Not applicable Interventional Results available

Clinical Trial of Factor XIII (FXIII) Concentrate

NCT00640289
View directory record Official record
Conditions
Hemophilia, Factor XIII Deficiency
Interventions
Fibrogammin P
Drug
Lead sponsor
Children's Hospital of Orange County
Other
Eligibility
Not listed
Enrollment
72 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2011
U.S. locations
1
States / cities
Orange, California
Source: ClinicalTrials.gov public record
Updated Nov 7, 2018 · Synced Oct 17, 2026, 6:26 PM EDT
Completed No phase listed Observational

Establishment of a Database for Long-Term Monitoring of Patients With Nephropathic Cystinosis

NCT00004312
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 24, 2005 · Synced Oct 17, 2026, 6:26 PM EDT