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ClinicalTrials.gov public records Last synced Oct 18, 2026, 9:32 AM EDT

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Showing 385–408 of 411 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Rare Disorder Clear all
Completed No phase listed Observational

Treatment Alternatives in iSGS (NoAAC PR-02 Study)

NCT02481817
View directory record Official record
Conditions
Idiopathic Subglottic Stenosis (iSGS)
Interventions
Endoscopic dilation of subglottic stenosis, Endoscopic resection of the stenosis, Tracheal Resection
Procedure
Lead sponsor
Vanderbilt University Medical Center
Other
Eligibility
18 Years and older
Enrollment
1,239 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2020
U.S. locations
39
States / cities
Birmingham, Alabama • Scottsdale, Arizona • Irvine, California + 35 more
Source: ClinicalTrials.gov public record
Updated Oct 28, 2021 · Synced Oct 18, 2026, 9:32 AM EDT
Recruiting No phase listed Observational

Rare and Atypical Diabetes Network

NCT05544266
View directory record Official record
Conditions
Diabetes Mellitus, Diabetes Mellitus Progression, Glucose Intolerance, Glucose Metabolism Disorders, Metabolic Disease, Endocrine; Complications, Endocrine System Diseases
Interventions
Not listed
Lead sponsor
University of South Florida
Other
Eligibility
Not listed
Enrollment
2,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2030
U.S. locations
13
States / cities
Aurora, Colorado • Chicago, Illinois • Indianapolis, Indiana + 10 more
Source: ClinicalTrials.gov public record
Updated Aug 14, 2025 · Synced Oct 18, 2026, 9:32 AM EDT
Recruiting Phase 1Phase 2 Interventional

A Randomized Study of SPK-10001 Gene Therapy in Participants With Huntington's Disease

NCT06826612
View directory record Official record
Conditions
Huntington Disease
Interventions
SPK-10001, Placebo Surgery Control
Genetic · Other
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
25 Years to 65 Years
Enrollment
53 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2035
U.S. locations
5
States / cities
Boston, Massachusetts • Cincinnati, Ohio • Columbus, Ohio + 2 more
Source: ClinicalTrials.gov public record
Updated May 5, 2026 · Synced Oct 18, 2026, 9:32 AM EDT
Completed No phase listed Observational

Study of Low Bone Mass in Premenopausal or Perimenopausal Women

NCT00005101
View directory record Official record
Conditions
Osteoporosis
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
16 Years to 54 Years · Female only
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1998
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 18, 2026, 9:32 AM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Study of Metabolic Effects of Pregnancy in Women With Cystic Fibrosis

NCT00014768
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
glucose, insulin, leucine
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older · Female only
Enrollment
36 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2001
U.S. locations
1
States / cities
Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 18, 2026, 9:32 AM EDT
Completed Phase 2 Interventional

GM604 Phase 2A Randomized Double-blind Placebo Controlled Pilot Trial in Amyotrophic Lateral Disease (ALS)

NCT01854294
View directory record Official record
Conditions
Amyotrophic Lateral Sclerosis
Interventions
GM604, Placebo comparator
Drug
Lead sponsor
Genervon Biopharmaceuticals, LLC
Industry
Eligibility
18 Years and older
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
2
States / cities
Boston, Massachusetts • New York, New York
Source: ClinicalTrials.gov public record
Updated Apr 27, 2021 · Synced Oct 18, 2026, 9:32 AM EDT
Completed Phase 2 Interventional Results available

Efficacy and Safety of the Combination Therapy of Dabrafenib and Trametinib in Subjects With BRAF V600E- Mutated Rare Cancers

NCT02034110
View directory record Official record
Conditions
Cancer
Interventions
Dabrafenib, Trametinib
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
206 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2021
U.S. locations
8
States / cities
Little Rock, Arkansas • Santa Monica, California • Bethesda, Maryland + 4 more
Source: ClinicalTrials.gov public record
Updated Aug 21, 2023 · Synced Oct 18, 2026, 9:32 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 24, 2005 · Synced Oct 18, 2026, 9:32 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 – 2030
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 5, 2026 · Synced Oct 18, 2026, 9:32 AM EDT
Completed Not applicable Interventional

Study of Tauroursodeoxycholic Acid for Hepatobiliary Disease in Cystic Fibrosis

NCT00004441
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
tauroursodeoxycholic acid, ursodiol
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Not listed
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1997 – 2001
U.S. locations
2
States / cities
Denver, Colorado • Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Mar 25, 2015 · Synced Oct 18, 2026, 9:32 AM EDT
Not listed Phase 1 Interventional

Phase I Study of Immune Ablation and CD34+ Peripheral Blood Stem Cell Support in Patients With Systemic Lupus Erythematosus

NCT00017641
View directory record Official record
Conditions
Systemic Lupus Erythematosus
Interventions
anti-thymocyte globulin, cyclophosphamide, filgrastim, CD34+ Peripheral Blood Stem Cell Reinfusion
Drug · Procedure
Lead sponsor
Northwestern Memorial Hospital
Other
Eligibility
0 Years to 59 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2001
U.S. locations
2
States / cities
Chicago, Illinois • Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 18, 2026, 9:32 AM EDT
Terminated Phase 2 Interventional Results available

Study of Brexucabtagene Autoleucel in Adults With Rare B-cell Malignancies

NCT05537766
View directory record Official record
Conditions
Relapsed/Refractory Waldenstrom Macroglobulinemia, Relapsed/Refractory Richter Transformation, Relapsed/Refractory Burkitt Lymphoma, Relapsed/Refractory Hairy Cell Leukemia
Interventions
Brexucabtagene Autoleucel, Cyclophosphamide, Fludarabine
Biological · Drug
Lead sponsor
Kite, A Gilead Company
Industry
Eligibility
18 Years and older
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
12
States / cities
Duarte, California • Stanford, California • Denver, Colorado + 8 more
Source: ClinicalTrials.gov public record
Updated Mar 10, 2026 · Synced Oct 18, 2026, 9:32 AM EDT
Completed No phase listed Observational Accepts healthy volunteers Results available

PCORI Urea Cycle Disorder Study

NCT02740153
View directory record Official record
Conditions
Urea Cycle Disorders
Interventions
No Intervention Given
Other
Lead sponsor
Children's National Research Institute
Other
Eligibility
Up to 18 Years
Enrollment
187 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2020
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Jan 26, 2021 · Synced Oct 18, 2026, 9:32 AM EDT
Completed Phase 2 Interventional Results available

A Study to Evaluate the Safety and Efficacy of PTC518 in Participants With Huntington's Disease (HD)

NCT05358717
View directory record Official record
Conditions
Huntington Disease
Interventions
PTC518, Placebo
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
25 Years and older
Enrollment
159 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
4
States / cities
La Jolla, California • Nashville, Tennessee • Houston, Texas + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 16, 2026 · Synced Oct 18, 2026, 9:32 AM EDT
Recruiting No phase listed Observational

Prospective Research Rare Kidney Stones (ProRKS)

NCT02780297
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 – 2028
U.S. locations
8
States / cities
Birmingham, Alabama • Jacksonville, Florida • Chicago, Illinois + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 7, 2026 · Synced Oct 18, 2026, 9:32 AM EDT
Terminated Phase 2 Interventional Results available

A Study to Evaluate Rucaparib in Participants With Solid Tumors and With Deleterious Mutations in HRR Genes

NCT04171700
View directory record Official record
Conditions
Solid Tumor
Interventions
Rucaparib
Drug
Lead sponsor
pharmaand GmbH
Industry
Eligibility
18 Years and older
Enrollment
83 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
19
States / cities
Los Angeles, California • San Francisco, California • Fort Myers, Florida + 15 more
Source: ClinicalTrials.gov public record
Updated Oct 2, 2023 · Synced Oct 18, 2026, 9:32 AM EDT
Active, not recruiting Phase 2 Interventional

A Study Evaluating the Efficacy and Safety of Biomarker-Driven Therapies in Patients With Persistent or Recurrent Rare Epithelial Ovarian Tumors

NCT04931342
View directory record Official record
Conditions
Ovarian Cancer
Interventions
Ipatasertib, Cobimetinib, Trastuzumab Emtansine, Atezolizumab, Bevacizumab, Paclitaxel, Giredestrant, Abemaciclib, Inavolisib, Palbociclib, Letrozole, Olaparib, Luteinizing Hormone-Releasing Hormone (LHRH) Agonists, Cyclophosphamide
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
18 Years and older · Female only
Enrollment
176 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2028
U.S. locations
8
States / cities
San Francisco, California • St Louis, Missouri • Charlotte, North Carolina + 5 more
Source: ClinicalTrials.gov public record
Updated Sep 10, 2026 · Synced Oct 18, 2026, 9:32 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Decision Support for Parents Receiving Information About Child's Rare Disease

NCT01875640
View directory record Official record
Conditions
Disorder of Sex Development, Intersex Conditions, Congenital Adrenal Hyperplasia, Hypospadias
Interventions
Not listed
Lead sponsor
University of Michigan
Other
Eligibility
Not listed
Enrollment
63 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2017
U.S. locations
4
States / cities
Los Angeles, California • Ann Arbor, Michigan • Philadelphia, Pennsylvania + 1 more
Source: ClinicalTrials.gov public record
Updated May 8, 2024 · Synced Oct 18, 2026, 9:32 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Study of Energy Requirements in Critically Ill Newborns

NCT00006274
View directory record Official record
Conditions
Respiratory Distress Syndrome
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
24 Hours to 120 Hours
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1997
U.S. locations
1
States / cities
Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 18, 2026, 9:32 AM EDT
Completed Not applicable Interventional

Randomized Study of Growth Hormone on Bone Mineral Density in Patients With Adult Onset Growth Hormone Deficiency

NCT00006394
View directory record Official record
Conditions
Osteoporosis, Growth Hormone Deficiency
Interventions
growth hormone
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
18 Years and older
Enrollment
72 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1997
U.S. locations
7
States / cities
Boston, Massachusetts • Rochester, Minnesota • St Louis, Missouri + 4 more
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 18, 2026, 9:32 AM EDT
Completed Phase 3 Interventional

A Study of the Safety of Gabapentin in a Potential Over-the-Counter Population With Occasional Sleeplessness

NCT00666575
View directory record Official record
Conditions
Transient Insomnia
Interventions
Gabapentin, Placebo
Drug
Lead sponsor
Pfizer's Upjohn has merged with Mylan to form Viatris Inc.
Industry
Eligibility
12 Years and older
Enrollment
2,105 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2005
U.S. locations
23
States / cities
Mobile, Alabama • Phoenix, Arizona • Beverly Hills, California + 17 more
Source: ClinicalTrials.gov public record
Updated Feb 2, 2021 · Synced Oct 18, 2026, 9:32 AM EDT
Completed No phase listed Observational

CZI Rare As One: Co-designing an App and Wearable Based Compass for Rare Diseases

NCT06907953
View directory record Official record
Conditions
Pancreatitis, Chronic, Sarcoidosis, VCP Disease, Long COVID, PCD, Symptoms and Signs, Wearables
Interventions
Observational - no intervention
Other
Lead sponsor
4YouandMe
Other
Eligibility
14 Years and older
Enrollment
239 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 12, 2025 · Synced Oct 18, 2026, 9:32 AM EDT
Active, not recruiting Phase 1 Interventional

Reduction in Splanchnic Capacitance Contributes to Sympathetically Dependent Hypertension in Autonomic

NCT02726711
View directory record Official record
Conditions
Multiple System Atrophy, Orthostatic Hypotension, Supine Hypertension
Interventions
Trimethaphan, Placebo
Drug
Lead sponsor
Vanderbilt University
Other
Eligibility
40 Years to 80 Years
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2026
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Mar 13, 2026 · Synced Oct 18, 2026, 9:32 AM EDT
Not listed Not applicable Interventional

Autologous Peripheral Blood Stem Cell Transplantation in Patients With Life Threatening Autoimmune Diseases

NCT00006055
View directory record Official record
Conditions
Purpura, Schoenlein-Henoch, Graft Versus Host Disease, Anemia, Hemolytic, Autoimmune, Rheumatoid Arthritis, Churg-Strauss Syndrome, Hypersensitivity Vasculitis, Wegener's Granulomatosis, Systemic Lupus Erythematosus, Giant Cell Arteritis, Pure Red Cell Aplasia, Juvenile Rheumatoid Arthritis, Polyarteritis Nodosa, Autoimmune Thrombocytopenic Purpura, Takayasu Arteritis
Interventions
anti-thymocyte globulin, cyclophosphamide, cyclosporine, filgrastim, methylprednisolone, prednisone, Autologous Peripheral Blood Stem Cell Transplantation
Drug · Procedure
Lead sponsor
Fairview University Medical Center
Other
Eligibility
1 Year to 55 Years
Enrollment
10 participants
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 18, 2026, 9:32 AM EDT