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ClinicalTrials.gov public records Last synced Oct 10, 2026, 3:35 PM EDT

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Showing 49–72 of 85 matching trials from the live ClinicalTrials.gov search.
Filters: Sponsor: Office of Rare Diseases (ORD) Clear all
Recruiting Phase 2 Interventional

A Randomized Multicenter Study for Isolated Skin Vasculitis

NCT02939573
View directory record Official record
Conditions
Primary Cutaneous Vasculitis, Cutaneous Polyarteritis Nodosa, IgA Vasculitis, Henoch-Schönlein Purpura
Interventions
Colchicine, Dapsone, Azathioprine
Drug
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years and older
Enrollment
90 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2028
U.S. locations
12
States / cities
Kansas City, Kansas • Boston, Massachusetts • Rochester, Minnesota + 9 more
Source: ClinicalTrials.gov public record
Updated Aug 20, 2026 · Synced Oct 10, 2026, 3:35 PM EDT
Completed Phase 3 Interventional Results available

The Assessment of Prednisone In Remission Trial - Centers of Excellence Approach

NCT01940094
View directory record Official record
Conditions
Granulomatosis With Polyangiitis
Interventions
5 mg Prednisone, 0 mg Prednisone
Drug
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years and older
Enrollment
159 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2024
U.S. locations
7
States / cities
Kansas City, Kansas • Boston, Massachusetts • Rochester, Minnesota + 4 more
Source: ClinicalTrials.gov public record
Updated Aug 6, 2026 · Synced Oct 10, 2026, 3:35 PM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations

NCT02461446
View directory record Official record
Conditions
PTEN, ASD, Autism, Macrocephaly, PTEN Hamartoma Tumor Syndrome
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
18 Months and older
Enrollment
180 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2026
U.S. locations
5
States / cities
Los Angeles, California • Stanford, California • Boston, Massachusetts + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 6, 2026 · Synced Oct 10, 2026, 3:35 PM EDT
Not listed No phase listed Observational

Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders

NCT00004341
View directory record Official record
Conditions
X-Linked Agammaglobulinemia, X-Linked Hyper IgM Syndrome, Wiskott-Aldrich Syndrome, Leukocyte Adhesion Deficiency Syndrome
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
0 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1995
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 10, 2026, 3:35 PM EDT
Completed No phase listed Observational

Biobanking of Rett Syndrome and Related Disorders

NCT02705677
View directory record Official record
Conditions
Rett Syndrome, MECP2 Duplication, CDKL5, FOXG1 Disorders
Interventions
Not listed
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
Not listed
Enrollment
752 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
12
States / cities
Birmingham, Alabama • Oakland, California • San Diego, California + 9 more
Source: ClinicalTrials.gov public record
Updated Aug 5, 2021 · Synced Oct 10, 2026, 3:35 PM EDT
Completed Not applicable Interventional

Study of Botulinum Toxin in Patients With Primary Hyperhidrosis

NCT00004480
View directory record Official record
Conditions
Hyperhidrosis
Interventions
botulinum toxin type A
Drug
Lead sponsor
Icahn School of Medicine at Mount Sinai
Other
Eligibility
16 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 10, 2026, 3:35 PM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)

NCT02461459
View directory record Official record
Conditions
Tuberous Sclerosis, Autism Disorder, Intellectual Disability
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
18 Months and older
Enrollment
205 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2026
U.S. locations
6
States / cities
Birmingham, Alabama • Los Angeles, California • Palo Alto, California + 3 more
Source: ClinicalTrials.gov public record
Updated Aug 6, 2026 · Synced Oct 10, 2026, 3:35 PM EDT
Not listed No phase listed Observational

Identifying Characteristics of Bone Marrow Failure Syndromes

NCT00315419
View directory record Official record
Conditions
Bone Marrow Failure Syndromes, Anemia, Aplastic, Myelodysplastic Syndromes, Hemoglobinuria, Paroxysmal, Red-Cell Aplasia, Pure, Purpura, Thrombocytopenic, Leukemia, Lymphocytic
Interventions
Not listed
Lead sponsor
Office of Rare Diseases (ORD)
NIH
Eligibility
11 Years and older
Enrollment
450 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2009
U.S. locations
4
States / cities
Los Angeles, California • Tampa, Florida • Cleveland, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Apr 21, 2010 · Synced Oct 10, 2026, 3:35 PM EDT
Completed Not applicable Interventional

Randomized Study of Midodrine, an Alpha Adrenergic Agonist, in Patients With Neurally Mediated Syncope

NCT00004479
View directory record Official record
Conditions
Syncope
Interventions
midodrine
Drug
Lead sponsor
Icahn School of Medicine at Mount Sinai
Other
Eligibility
16 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 10, 2026, 3:35 PM EDT
Completed No phase listed Observational

Use of MRI and PET for Assessing Disease Activity in Takayasu's Arteritis

NCT00744952
View directory record Official record
Conditions
Takayasu Arteritis
Interventions
Not listed
Lead sponsor
Peter Merkel
Other
Eligibility
18 Years and older
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2018
U.S. locations
3
States / cities
Boston, Massachusetts • Rochester, Minnesota • Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Oct 19, 2018 · Synced Oct 10, 2026, 3:35 PM EDT
Completed No phase listed Observational

Characteristics of Episodic Ataxia Syndrome

NCT00266760
View directory record Official record
Conditions
Episodic Ataxia Syndrome, Cerebellar Diseases
Interventions
Not listed
Lead sponsor
University of California, Los Angeles
Other
Eligibility
5 Years and older
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2011
U.S. locations
4
States / cities
Los Angeles, California • Kansas City, Kansas • Boston, Massachusetts + 1 more
Source: ClinicalTrials.gov public record
Updated May 15, 2023 · Synced Oct 10, 2026, 3:35 PM EDT
Completed No phase listed Observational

CEGIR 7807: Validation of Online Cohort of EGID Patients Enrolled in RDCRN CEGIR Contact Registry

NCT03382678
View directory record Official record
Conditions
Eosinophilic Esophagitis
Interventions
Not listed
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
0 Years and older
Enrollment
187 participants
Timeline
2018 – 2020
U.S. locations
2
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Sep 1, 2021 · Synced Oct 10, 2026, 3:35 PM EDT
Completed Not applicable Interventional

CEGIR 7808: Use of Unsedated Transnasal Esophagoscopy (TNE) to Monitor Dietary Management of Eosinophilic Esophagitis in Children

NCT03342391
View directory record Official record
Conditions
Eosinophilic Esophagitis
Interventions
Transnasal esophagoscopy
Other
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
5 Years to 22 Years
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated Mar 9, 2021 · Synced Oct 10, 2026, 3:35 PM EDT
Completed Not applicable Interventional

Study of Allogeneic Bone Marrow Transplantation Following Cyclophosphamide and Radiotherapy in Patients With Myelodysplastic Syndrome and Acute Leukemia Related to Fanconi's Anemia

NCT00005892
View directory record Official record
Conditions
Fanconi's Anemia, Myelodysplastic Syndromes, Leukemia, Nonlymphocytic, Acute, Leukemia, Lymphocytic, Acute
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 10, 2026, 3:35 PM EDT
Completed Not applicable Interventional Results available

Effect of Elemental Diet on Adult Patients With Eosinophilic Gastroenteritis

NCT03320369
View directory record Official record
Conditions
Eosinophilic Gastroenteritis
Interventions
Elemental Diet Therapy
Other
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
18 Years to 65 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Oct 27, 2020 · Synced Oct 10, 2026, 3:35 PM EDT
Completed Phase 1Phase 2 Interventional

Phase I/II Study of Retroviral-Mediated Transfer of Iduronate-2-Sulfatase Gene Into Lymphocytes of Patients With Mucopolysaccharidosis II (Mild Hunter Syndrome)

NCT00004454
View directory record Official record
Conditions
Mucopolysaccharidosis II
Interventions
lymphocyte gene therapy
Genetic
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
18 Years and older
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1996
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 10, 2026, 3:35 PM 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 10, 2026, 3:35 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Effect of Estrogen on Mental and Social Functioning in Girls With Turner's Syndrome

NCT00004274
View directory record Official record
Conditions
Turner's Syndrome
Interventions
Estrogen
Drug
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
8 Years to 12 Years · Female only
Enrollment
260 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1990
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 10, 2026, 3:35 PM EDT
Completed No phase listed Observational

Determining Disease Activity Biomarkers in Individuals With Polyarteritis Nodosa

NCT00315406
View directory record Official record
Conditions
Polyarteritis Nodosa
Interventions
Not listed
Lead sponsor
University of Pennsylvania
Other
Eligibility
Not listed
Enrollment
107 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2019
U.S. locations
7
States / cities
Boston, Massachusetts • Rochester, Minnesota • Cleveland, Ohio + 3 more
Source: ClinicalTrials.gov public record
Updated Jul 12, 2022 · Synced Oct 10, 2026, 3:35 PM EDT
Terminated No phase listed Observational

Longitudinal and Biological Study of Childhood Disintegrative Disorder

NCT00004458
View directory record Official record
Conditions
Pervasive Child Development Disorders, Autism
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
2 Years to 9 Years
Enrollment
220 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1997
U.S. locations
2
States / cities
New Haven, Connecticut • Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 10, 2026, 3:35 PM 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 9, 2008 · Synced Oct 10, 2026, 3:35 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 10, 2026, 3:35 PM EDT
Not listed No phase listed Observational

NF2 Natural History Consortium

NCT00004483
View directory record Official record
Conditions
Schwannoma, Vestibular, Neurofibromatosis 2, Meningioma
Interventions
Not listed
Lead sponsor
House Ear Institute
Other
Eligibility
5 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2002
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Sep 29, 2005 · Synced Oct 10, 2026, 3:35 PM EDT
Completed Not applicable Interventional

Examining Genetic Differences Among People With 21-Hydroxylase Deficiency

NCT00542841
View directory record Official record
Conditions
21-hydroxylase Deficiency
Interventions
Hydrocortisone withdrawal
Procedure
Lead sponsor
Maria I. New
Other
Eligibility
18 Years to 50 Years
Enrollment
99 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2009
U.S. locations
2
States / cities
New York, New York • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Dec 14, 2015 · Synced Oct 10, 2026, 3:35 PM EDT