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ClinicalTrials.gov public records Last synced Sep 24, 2026, 5:56 AM EDT

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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Rare Diseases Clear all
Recruiting No phase listed Observational

Baker Gordon Syndrome Natural History Study

NCT06399952
View directory record Official record
Conditions
Rare Diseases, Autism or Autistic Traits, Development Delay, SYT-SSX Fusion Protein Expression, Sleep Disorder, Epilepsy, Generalized, Motor Delay
Interventions
Brain Magnetic Resonance Imaging (MRI), Whole Genome Sequencing, Induced Pluripotential Stem Cells
Diagnostic Test · Genetic · Other
Lead sponsor
University of Missouri-Columbia
Other
Eligibility
0 Years to 99 Years
Enrollment
50 participants
Timeline
2024 – 2027
U.S. locations
1
States / cities
Columbia, Missouri
Source: ClinicalTrials.gov public record
Updated Jun 2, 2026 · Synced Sep 24, 2026, 5:56 AM EDT
Completed Not applicable Interventional

COOL-BP Study: Continuous Versus Occasional Blood Pressure Study

NCT05211648
View directory record Official record
Conditions
Hypertension
Interventions
Aktiia Bracelet
Device
Lead sponsor
Aktiia SA
Industry
Eligibility
26 Years to 80 Years
Enrollment
55 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated May 23, 2023 · Synced Sep 24, 2026, 5:56 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 23, 2005 · Synced Sep 24, 2026, 5:56 AM EDT
Not listed Phase 2 Interventional

Phase II Randomized Study of Intravenous Versus Oral Clomipramine in Patients With Obsessive Compulsive Disorder

NCT00004310
View directory record Official record
Conditions
Obsessive-Compulsive Disorder
Interventions
Clomipramine
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
18 Years to 55 Years
Enrollment
76 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
2
States / cities
Stanford, California • Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 24, 2026, 5:56 AM EDT
Completed Phase 2 Interventional Results available

Safety and Efficacy of CC-486 in Previously Treated Patients With Locally Advanced or Metastatic Nasopharyngeal Carcinoma

NCT02269943
View directory record Official record
Conditions
Nasopharyngeal Neoplasms
Interventions
CC-486
Drug
Lead sponsor
Celgene
Industry
Eligibility
18 Years and older
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
5
States / cities
Atlanta, Georgia • Chicago, Illinois • Boston, Massachusetts + 2 more
Source: ClinicalTrials.gov public record
Updated Dec 11, 2018 · Synced Sep 24, 2026, 5:56 AM EDT
Completed Phase 1 Interventional

Pilot Study of Total Body Irradiation in Combination With Cyclophosphamide, Anti-thymocyte Globulin, and Autologous CD34-Selected Peripheral Blood Stem Cell Transplantation in Children With Refractory Autoimmune Disorders

NCT00010335
View directory record Official record
Conditions
Systemic Sclerosis, Systemic Lupus Erythematosus, Dermatomyositis, Juvenile Rheumatoid Arthritis, Autoimmune Diseases
Interventions
Stem Cell Transplantation, CD34 selection
Procedure · Device
Lead sponsor
Fred Hutchinson Cancer Center
Other
Eligibility
2 Years to 18 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2011
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Mar 5, 2015 · Synced Sep 24, 2026, 5:56 AM 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 16, 2023 · Synced Sep 24, 2026, 5:56 AM EDT
Completed Not applicable Interventional

Pilot Study of Cyclophosphamide in Patients With Life-Threatening Systemic Lupus Erythematosus or Antiphospholipid Antibody Syndrome

NCT00010400
View directory record Official record
Conditions
Systemic Lupus Erythematosus, Antiphospholipid Antibody Syndrome
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 1997
U.S. locations
2
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 24, 2026, 5:56 AM EDT
Completed No phase listed Observational

Study of Genetic Anomalies of Complement Related Proteins in Patients With IgA Glomerulonephritis

NCT00004305
View directory record Official record
Conditions
IGA Glomerulonephritis
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
105 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1998
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 24, 2026, 5:56 AM 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 25, 2016 · Synced Sep 24, 2026, 5:56 AM EDT
Completed Phase 1 Interventional

Pilot Study of Budesonide for Patients With Primary Sclerosing Cholangitis

NCT00004842
View directory record Official record
Conditions
Cholangitis, Sclerosing, Liver Cirrhosis, Biliary
Interventions
budesonide
Drug
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Eligibility
18 Years to 70 Years
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1997 – 1999
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated May 30, 2017 · Synced Sep 24, 2026, 5:56 AM EDT
Recruiting No phase listed Observational

The Appendix Cancer PMP Research Foundation Natural History Study/Patient Registry

NCT07769346
View directory record Official record
Conditions
Appendix Cancer, Pseudomyxoma Peritonei
Interventions
Not listed
Lead sponsor
Appendix Cancer Pseudomyxoma Peritonei Research Foundation
Other
Eligibility
Not listed
Enrollment
10,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2030
U.S. locations
1
States / cities
Springfield, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 16, 2026 · Synced Sep 24, 2026, 5:56 AM EDT
Completed Not applicable Interventional

Randomized Study of Oral Contraceptives or Hormone Replacement Therapy in Women With Systemic Lupus Erythematosus

NCT00006133
View directory record Official record
Conditions
Systemic Lupus Erythematosus
Interventions
estradiol, ethinyl estradiol, medroxyprogesterone, norethindrone
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older · Female only
Enrollment
970 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
17
States / cities
Birmingham, Alabama • Los Angeles, California • San Francisco, California + 12 more
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 24, 2026, 5:56 AM EDT
Recruiting No phase listed Observational

The KidneyCARE (Community Access to Research Equity) Study

NCT05497518
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 Sep 24, 2026, 5:56 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW

NCT02670694
View directory record Official record
Conditions
Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
Interventions
Not listed
Lead sponsor
Baylor College of Medicine
Other
Eligibility
1 Year to 18 Years
Enrollment
804 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2013
U.S. locations
9
States / cities
Birmingham, Alabama • Irvine, California • San Diego, California + 6 more
Source: ClinicalTrials.gov public record
Updated Feb 1, 2016 · Synced Sep 24, 2026, 5:56 AM 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 24, 2015 · Synced Sep 24, 2026, 5:56 AM EDT
Completed Not applicable Interventional

Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks

NCT00004330
View directory record Official record
Conditions
Porphyria
Interventions
luteinizing hormone-releasing factor
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
18 Years to 55 Years · Female only
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1987
U.S. locations
1
States / cities
Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 24, 2026, 5:56 AM EDT
Not listed Phase 2 Interventional Accepts healthy volunteers

Ultraviolet Light Therapy for Systemic Lupus Erythematosus

NCT00004375
View directory record Official record
Conditions
Systemic Lupus Erythematosus
Interventions
ultraviolet A-1 light treatment
Procedure
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
15 Years to 70 Years
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1991
U.S. locations
2
States / cities
New Orleans, Louisiana
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 24, 2026, 5:56 AM EDT
Withdrawn No phase listed Observational Accepts healthy volunteers

Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia

NCT06560346
View directory record Official record
Conditions
Friedreich Ataxia, Rare Diseases
Interventions
Geneticlly confirmed disease causing FXN mutatuion, Healthy Control
Other
Lead sponsor
Friedreich's Ataxia Research Alliance
Other
Eligibility
4 Years to 21 Years
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2028
U.S. locations
3
States / cities
Iowa City, Iowa • Philadelphia, Pennsylvania • Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Jun 7, 2025 · Synced Sep 24, 2026, 5:56 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)

NCT07329257
View directory record Official record
Conditions
Baker Gordon Syndrome, Rare Neurodevelopmental Conditions, Rare Neurogenetic Conditions, Syt-1 Disorder, Epilepsy, Seizure, Genetic Mutations, Autism in Children, Developmental Delay (Disorder)
Interventions
No Intervention: Observational Cohort
Other
Lead sponsor
University of Missouri-Columbia
Other
Eligibility
Up to 99 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2028
U.S. locations
1
States / cities
Columbia, Missouri
Source: ClinicalTrials.gov public record
Updated Jan 8, 2026 · Synced Sep 24, 2026, 5:56 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 27, 2026 · Synced Sep 24, 2026, 5:56 AM EDT
Recruiting Phase 2 Interventional

Study to Evaluate Sutetinib Maleate Capsule in Locally Advanced or Metastatic Non-small Cell Lung Cancer

NCT05168566
View directory record Official record
Conditions
Non-small Cell Lung Cancer
Interventions
Sutetinib Maleate Capsule
Drug
Lead sponsor
Teligene US
Industry
Eligibility
18 Years and older
Enrollment
99 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2028
U.S. locations
6
States / cities
Glendale, California • Athens, Georgia • Louisville, Kentucky + 3 more
Source: ClinicalTrials.gov public record
Updated Apr 27, 2026 · Synced Sep 24, 2026, 5:56 AM EDT
Completed Phase 3 Interventional

Phase III Randomized Study of Oral Acyclovir in Infants With Herpes Simplex Virus Infection Limited to Skin, Eyes, and Mouth

NCT00006135
View directory record Official record
Conditions
Herpes Simplex
Interventions
acyclovir
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years to 28 Days
Enrollment
66 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1997
U.S. locations
25
States / cities
Birmingham, Alabama • Little Rock, Arkansas • Los Angeles, California + 20 more
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 24, 2026, 5:56 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 29, 2026 · Synced Sep 24, 2026, 5:56 AM EDT