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ClinicalTrials.gov public records Last synced Jul 22, 2026, 6:00 AM EDT

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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Filters: Condition: Rare Genetic Disease Clear all
Completed Phase 2 Interventional Results available

Study of High-Dose Chemotherapy With Bone Marrow or Stem Cell Transplant for Rare Poor-Prognosis Cancers

NCT00141765
View directory record Official record
Conditions
Wilms Tumor, Fibrosarcoma, Carcinoma, Round Cell, Nasopharyngeal Cancer, Brain Tumor, Recurrent
Interventions
Myeloablative Chemotherapy, Stem Cell Rescue
Procedure
Lead sponsor
University of Michigan Rogel Cancer Center
Other
Eligibility
Up to 21 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1997 – 2010
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Jun 19, 2014 · Synced Jul 22, 2026, 6:00 AM EDT
Completed Phase 2 Interventional Results available

Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age

NCT02418455
View directory record Official record
Conditions
Sly Syndrome, MPS VII, Mucopolysaccharidosis, Mucopolysaccharidosis VII
Interventions
UX003
Drug
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
1 Day to 5 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
3
States / cities
Washington D.C., District of Columbia • New York, New York • Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated Oct 29, 2019 · Synced Jul 22, 2026, 6:00 AM EDT
Recruiting No phase listed Observational

A Study Evaluating the Real-World Experience of Givinostat in Patients With Duchenne Muscular Dystrophy

NCT07127978
View directory record Official record
Conditions
Duchene Muscular Dystrophy
Interventions
Not listed
Lead sponsor
ITF Therapeutics LLC
Industry
Eligibility
6 Years and older
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
9
States / cities
Little Rock, Arkansas • Washington D.C., District of Columbia • Chicago, Illinois + 6 more
Source: ClinicalTrials.gov public record
Updated Jul 1, 2026 · Synced Jul 22, 2026, 6:00 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 Jul 22, 2026, 6:00 AM EDT
Active, not recruiting Phase 1Phase 2 Interventional

Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A

NCT06314490
View directory record Official record
Conditions
Genetic Disease
Interventions
nL-SCN2A-002
Drug
Lead sponsor
University of California, San Diego
Other
Eligibility
Not listed
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Mar 31, 2025 · Synced Jul 22, 2026, 6:00 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network

NCT02450851
View directory record Official record
Conditions
Genetic Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 100 Years
Enrollment
20,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2028
U.S. locations
33
States / cities
Birmingham, Alabama • Huntsville, Alabama • Los Angeles, California + 21 more
Source: ClinicalTrials.gov public record
Updated Jul 16, 2026 · Synced Jul 22, 2026, 6:00 AM EDT
Completed No phase listed Observational

Genetic Study of Patients With Primary Ciliary Dyskinesia

NCT00005650
View directory record Official record
Conditions
Primary Ciliary Dyskinesia
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
180 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 22, 2026, 6:00 AM EDT
Not listed No phase listed Observational

Study of Systemic Amyloidosis Presentation and Prognosis

NCT00004374
View directory record Official record
Conditions
Amyloidosis
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1979
U.S. locations
1
States / cities
Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 22, 2026, 6:00 AM EDT
Completed Phase 3 Interventional Results available

Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis

NCT01744782
View directory record Official record
Conditions
Cystinosis
Interventions
RP103
Drug
Lead sponsor
Amgen
Industry
Eligibility
Up to 6 Years
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Dec 26, 2024 · Synced Jul 22, 2026, 6:00 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Genomic Uniformed-Screening Against Rare Disease In All Newborns

NCT05990179
View directory record Official record
Conditions
Early Onset Genetic Conditions With Near Complete Penetrance
Interventions
Genome sequencing-based newborn screening
Other
Lead sponsor
Columbia University
Other
Eligibility
1 Day to 1 Month
Enrollment
100,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2029
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Sep 18, 2025 · Synced Jul 22, 2026, 6:00 AM EDT
Completed Phase 2 Interventional

Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome

NCT00004275
View directory record Official record
Conditions
Turner's Syndrome
Interventions
growth hormone, oxandrolone
Drug
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
10 Years to 14 Years · Female only
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 9, 2008 · Synced Jul 22, 2026, 6:00 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 Jul 22, 2026, 6:00 AM EDT
Completed Not applicable Interventional

Study of NTBC for Tyrosinemia I

NCT00004443
View directory record Official record
Conditions
Tyrosinemia I
Interventions
NTBC
Drug
Lead sponsor
University of Washington
Other
Eligibility
Up to 17 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2006
U.S. locations
2
States / cities
Portland, Oregon • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Mar 24, 2015 · Synced Jul 22, 2026, 6:00 AM EDT
Enrolling by invitation Not applicable Interventional

AI Echocardiographic Screening of Cardiac Amyloidosis

NCT06664866
View directory record Official record
Conditions
Cardiac Amyloidosis
Interventions
EchoNet-LVH Assessment
Diagnostic Test
Lead sponsor
Cedars-Sinai Medical Center
Other
Eligibility
22 Years and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
4
States / cities
Los Angeles, California • Palo Alto, California • Chicago, Illinois + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 26, 2025 · Synced Jul 22, 2026, 6:00 AM EDT
Active, not recruiting Phase 1 Interventional

Dose Escalation Study of CLR 131 in Pediatric Relapsed/Refractory Malignant Tumors Including Neuroblastoma and Sarcomas

NCT03478462
View directory record Official record
Conditions
Pediatric Solid Tumor, Pediatric Lymphoma, Pediatric Brain Tumor, DIPG, Neuroblastoma, Ewing Sarcoma, Rhabdomyosarcoma, Osteosarcoma
Interventions
CLR 131
Drug
Lead sponsor
Cellectar Biosciences, Inc.
Industry
Eligibility
2 Years to 25 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2027
U.S. locations
6
States / cities
Palo Alto, California • New York, New York • Chapel Hill, North Carolina + 3 more
Source: ClinicalTrials.gov public record
Updated Mar 17, 2026 · Synced Jul 22, 2026, 6:00 AM EDT
Completed Early Phase 1 Interventional Results available

Calcitriol Monotherapy for X-Linked Hypophosphatemia

NCT03748966
View directory record Official record
Conditions
X-linked Hypophosphatemia, Hypophosphatemic Rickets, Hypophosphatemic Rickets, X-Linked Dominant
Interventions
Calcitriol
Drug
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
3 Years to 70 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2026
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated May 6, 2026 · Synced Jul 22, 2026, 6:00 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 25, 2021 · Synced Jul 22, 2026, 6:00 AM 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 13, 2022 · Synced Jul 22, 2026, 6:00 AM EDT
Enrolling by invitation Phase 1 Interventional

Result of tDCS in ASD Children With Comorbidities Like PANDAS, Rare Genetic Diseases or Autoimmune Disorders

NCT06368726
View directory record Official record
Conditions
Attention, Visual Perceptual Weakness, Social Behavior, Fluency Disorder, EEG With Periodic Abnormalities
Interventions
tDCS or Transcranial Direct Current Stimulation, Risperidone
Device · Drug
Lead sponsor
Spanish Foundation for Neurometrics Development
Other
Eligibility
6 Years to 11 Years
Enrollment
180 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
1
States / cities
Albuquerque, New Mexico
Source: ClinicalTrials.gov public record
Updated May 18, 2026 · Synced Jul 22, 2026, 6:00 AM EDT
Not listed No phase listed Observational

Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions

NCT02365376
View directory record Official record
Conditions
Rare Genetic Disorders
Interventions
Not listed
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Not listed
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2013
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Feb 17, 2015 · Synced Jul 22, 2026, 6:00 AM EDT
Completed Phase 2 Interventional

Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease

NCT00004488
View directory record Official record
Conditions
Gaucher's Disease, Osteopenia
Interventions
alendronate sodium, calcium carbonate, cholecalciferol
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
18 Years to 50 Years
Enrollment
82 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2002
U.S. locations
2
States / cities
Cincinnati, Ohio • Dayton, Ohio
Source: ClinicalTrials.gov public record
Updated Mar 24, 2015 · Synced Jul 22, 2026, 6:00 AM 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 8, 2008 · Synced Jul 22, 2026, 6:00 AM EDT
Completed No phase listed Observational

23andMe IPF Research Study

NCT05028894
View directory record Official record
Conditions
Idiopathic Pulmonary Fibrosis
Interventions
No intervention
Other
Lead sponsor
23andMe, Inc.
Industry
Eligibility
18 Years and older
Enrollment
690 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
1
States / cities
Sunnyvale, California
Source: ClinicalTrials.gov public record
Updated Dec 8, 2024 · Synced Jul 22, 2026, 6:00 AM EDT