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ClinicalTrials.gov public records Last synced Sep 11, 2026, 10:03 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 Disorders Clear all
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 6, 2026 · Synced Sep 11, 2026, 10:03 AM EDT
Completed Phase 2 Interventional

Phase II Study of Rituximab in Patients With Immune Thrombocytopenic Purpura

NCT00005652
View directory record Official record
Conditions
Purpura, Thrombocytopenic, Idiopathic
Interventions
rituximab
Drug
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Birmingham, Alabama
Source: ClinicalTrials.gov public record
Updated Sep 8, 2008 · Synced Sep 11, 2026, 10:03 AM 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 3, 2019 · Synced Sep 11, 2026, 10:03 AM EDT
Completed No phase listed Observational

Genetic Studies in the Amish and Mennonites

NCT00359580
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
2004 – 2014
U.S. locations
2
States / cities
Bethesda, Maryland • Strasburg, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 2, 2026 · Synced Sep 11, 2026, 10:03 AM EDT
Completed No phase listed Observational

The Experience of Uncertainty in Parents of Children With an Undiagnosed Medical Condition

NCT00955370
View directory record Official record
Conditions
Multiple Abnormalities
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2012
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Sep 11, 2026, 10:03 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 23, 2005 · Synced Sep 11, 2026, 10:03 AM EDT
Completed Phase 2 Interventional

Absorption of Corticosteroids in Children With Juvenile Dermatomyositis

NCT00004357
View directory record Official record
Conditions
Vasculitis, Hypersensitivity, Connective Tissue Diseases, Dermatomyositis, Vasculitis
Interventions
Methylprednisolone, Prednisolone
Drug
Lead sponsor
Northwestern University
Other
Eligibility
4 Years to 21 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1997 – 2008
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Jul 21, 2011 · Synced Sep 11, 2026, 10:03 AM EDT
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 11, 2026, 10:03 AM EDT
Terminated No phase listed Observational

Long Term Follow-up (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIX

NCT04628871
View directory record Official record
Conditions
Hemophilia B, Mucopolysaccharidosis I, Mucopolysaccharidosis II
Interventions
SB-318, SB-913, SB-FIX
Biological
Lead sponsor
Sangamo Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2026
U.S. locations
5
States / cities
Oakland, California • Chicago, Illinois • New York, New York + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 12, 2026 · Synced Sep 11, 2026, 10:03 AM EDT
Active, not recruiting Phase 1 Interventional

Study of Furmonertinib in Patients With Advanced or Metastatic Non-Small Cell Lung Cancer (NSCLC) With Activating, Including Uncommon, Epidermal Growth Factor Receptor (EGFR) or Human Epidermal Growth Factor Receptor 2 (HER2) Mutations

NCT05364073
View directory record Official record
Conditions
Non-Small Cell Lung Cancer (NSCLC), Metastatic Non-Small Cell Lung Cancer, Advanced Non-Small Cell Lung Cancer, HER2 Exon 20 Mutations, EGFR Exon 20 Mutations, EGFR Uncommon Mutations, Including G719X and S768I
Interventions
Furmonertinib
Drug
Lead sponsor
ArriVent BioPharma, Inc.
Industry
Eligibility
18 Years and older
Enrollment
160 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
7
States / cities
Prescott, Arizona • Sacramento, California • Whittier, California + 4 more
Source: ClinicalTrials.gov public record
Updated Mar 12, 2026 · Synced Sep 11, 2026, 10:03 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 11, 2026, 10:03 AM EDT
Not listed Not applicable Interventional

Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders

NCT00006056
View directory record Official record
Conditions
Chediak-Higashi Syndrome, Graft Versus Host Disease, X-Linked Lymphoproliferative Syndrome, Familial Erythrophagocytic Lymphohistiocytosis, Hemophagocytic Lymphohistiocytosis, Virus-Associated Hemophagocytic Syndrome
Interventions
anti-thymocyte globulin, busulfan, cyclophosphamide, cyclosporine, etoposide, filgrastim, methotrexate, allogeneic hematopoietic stem cell transplantation
Drug · Procedure
Lead sponsor
Fairview University Medical Center
Other
Eligibility
0 Years to 55 Years
Enrollment
40 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 23, 2005 · Synced Sep 11, 2026, 10:03 AM EDT
Not listed No phase listed Observational

Study of Neurobehavioral Outcome in Children or Adolescents With Closed Head Injuries

NCT00006128
View directory record Official record
Conditions
Head Injuries, Closed
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years to 12 Years
Enrollment
374 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1998
U.S. locations
4
States / cities
La Jolla, California • Dallas, Texas • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 11, 2026, 10:03 AM EDT
Completed Phase 3 Interventional Results available

Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis

NCT01000961
View directory record Official record
Conditions
Cystinosis
Interventions
Cystagon® (Cysteamine Bitartrate), Cysteamine Bitartrate Delayed-release Capsules (RP103)
Drug
Lead sponsor
Amgen
Industry
Eligibility
6 Years and older
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
3
States / cities
Stanford, California • Atlanta, Georgia • Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Dec 18, 2024 · Synced Sep 11, 2026, 10:03 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 23, 2005 · Synced Sep 11, 2026, 10:03 AM EDT
Completed Not applicable Interventional

Study of the Pharmacokinetics of Mycophenolate Mofetil in Patients Who Have Undergone Orthotopic Liver Transplantation

NCT00007059
View directory record Official record
Conditions
Graft Versus Host Disease
Interventions
mycophenolate mofetil
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
19 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1998
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 11, 2026, 10:03 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Comparison of Asymptomatic Carotid Atherosclerosis Between Frequent and Infrequent Blood Donors

NCT00001589
View directory record Official record
Conditions
Carotid Atherosclerosis, Myocardial Infarction
Interventions
Not listed
Lead sponsor
National Institutes of Health Clinical Center (CC)
NIH
Eligibility
Not listed
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1997 – 2002
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Sep 11, 2026, 10:03 AM EDT
Recruiting No phase listed Observational

Safety and Durability of Sirolimus for Treatment of LAM

NCT02432560
View directory record Official record
Conditions
Lymphangioleiomyomatosis
Interventions
Sirolimus, Everolimus
Drug
Lead sponsor
University of Cincinnati
Other
Eligibility
18 Years and older · Female only
Enrollment
600 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2025
U.S. locations
20
States / cities
Stanford, California • Denver, Colorado • Jacksonville, Florida + 17 more
Source: ClinicalTrials.gov public record
Updated Dec 23, 2024 · Synced Sep 11, 2026, 10:03 AM EDT
Recruiting Phase 2 Interventional

The ExTINGUISH Trial of Inebilizumab in NMDAR Encephalitis

NCT04372615
View directory record Official record
Conditions
Autoimmune Encephalitis, Encephalitis
Interventions
Inebilizumab, Placebo
Drug
Lead sponsor
University of Utah
Other
Eligibility
12 Years and older
Enrollment
116 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2028
U.S. locations
35
States / cities
Birmingham, Alabama • Phoenix, Arizona • Scottsdale, Arizona + 28 more
Source: ClinicalTrials.gov public record
Updated Jun 30, 2025 · Synced Sep 11, 2026, 10:03 AM EDT
Not listed Phase 3 Interventional

Phase III Randomized Study of Oral Acyclovir in Infants With Herpes Simplex Virus Infection Involving the Central Nervous System

NCT00006132
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
132 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1997
U.S. locations
26
States / cities
Birmingham, Alabama • Little Rock, Arkansas • Los Angeles, California + 21 more
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 11, 2026, 10:03 AM 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 Aug 26, 2026 · Synced Sep 11, 2026, 10:03 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Study of Energy Expenditure in Infants With Ventricular Septal Defects

NCT00006272
View directory record Official record
Conditions
Heart Septal Defects, Ventricular
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
3 Months to 4 Months
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1994
U.S. locations
1
States / cities
Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Sep 11, 2026, 10:03 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 11, 2026, 10:03 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Vascular Disease Discovery Protocol

NCT03538639
View directory record Official record
Conditions
Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
2 Years to 100 Years
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2037
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 20, 2026 · Synced Sep 11, 2026, 10:03 AM EDT