Independent directory Public ClinicalTrials.gov records United States
Clinical Trials Finder
Objective public record navigation
Search Results

Search by objective public record fields.

Search by query text, NCT ID, condition, intervention, sponsor, city, state, recruitment status, phase, study type, healthy volunteer eligibility, sex, or age. Results are retrieved from ClinicalTrials.gov and synchronized into the directory. Search pages remain noindex by default.

Clear filters
ClinicalTrials.gov public records Last synced Jul 22, 2026, 2:05 AM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Showing 1–24 of 188 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Filters: Condition: Rare Genetic Disease Clear all
Completed Phase 3 Interventional Results available

A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)

NCT02432144
View directory record Official record
Conditions
Sly Syndrome, MPS VII, Mucopolysaccharidosis, Mucopolysaccharidosis VII
Interventions
UX003
Drug
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
5 Years and older
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
4
States / cities
Oakland, California • Orange, California • Minneapolis, Minnesota + 1 more
Source: ClinicalTrials.gov public record
Updated Jul 29, 2020 · Synced Jul 22, 2026, 2:05 AM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Palliative Care Needs of Children With Rare Diseases and Their Families

NCT06938542
View directory record Official record
Conditions
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome, Early Infantile Epileptic Encephalopathy, FOXG1 Syndrome, KBG Syndrome, Noonan Syndrome, Severe Hemophilia A, Short Bowel Syndrome, Beta-Propeller Protein-Associated Neurodegeneration, Brain Injury of Prematurity With Periventricular Leukomalacia, Chromosome 17p13.3 Microdeletion Syndrome, Chromosome 1q43-1q44 Deletion, Cockayne Syndrome, Congenital Diaphragmatic Hernia, End-Stage Renal Disease With Cloacal Anomaly, Mitochondrial Depletion Disorder, Severe Factor VII Deficiency
Interventions
Family Centered pediatric palliative care for family caregivers of children with rare diseases.
Behavioral
Lead sponsor
Children's National Research Institute
Other
Eligibility
12 Months to 99 Years
Enrollment
480 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2029
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Jan 27, 2026 · Synced Jul 22, 2026, 2:05 AM EDT
Terminated Phase 1Phase 2 Interventional Results available

Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II

NCT03041324
View directory record Official record
Conditions
Mucopolysaccharidosis II, MPS II
Interventions
SB-913
Biological
Lead sponsor
Sangamo Therapeutics
Industry
Eligibility
5 Years to 65 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
5
States / cities
Oakland, California • Chicago, Illinois • New York, New York + 2 more
Source: ClinicalTrials.gov public record
Updated Oct 24, 2022 · Synced Jul 22, 2026, 2:05 AM EDT
Suspended Phase 1Phase 2 Interventional

Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile Krabbe Disease

NCT04771416
View directory record Official record
Conditions
Leukodystrophy, Globoid Cell
Interventions
PBKR03
Biological
Lead sponsor
Gemma Biotherapeutics
Industry
Eligibility
1 Month to 9 Months
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2030
U.S. locations
4
States / cities
Chicago, Illinois • New York, New York • Philadelphia, Pennsylvania + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 29, 2026 · Synced Jul 22, 2026, 2:05 AM EDT
Active, not recruiting 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 – 2030
U.S. locations
5
States / cities
Oakland, California • Chicago, Illinois • New York, New York + 2 more
Source: ClinicalTrials.gov public record
Updated May 2, 2024 · Synced Jul 22, 2026, 2:05 AM EDT
Available No phase listed Expanded access

Expanded Access Program for R007 (Probucol) Tablets in Adults With Mitochondrial Disease and Chronic Kidney Disease

NCT06931834
View directory record Official record
Conditions
Mitochondrial Disease, Chronic Kidney Disease
Interventions
Probucol
Drug
Lead sponsor
RiboNova Inc.
Industry
Eligibility
18 Years to 75 Years
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 16, 2025 · Synced Jul 22, 2026, 2:05 AM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Research for Individualized Therapeutics in Rare Genetic Disease

NCT05236595
View directory record Official record
Conditions
Rare Genetic Disease, Undiagnosed Diseases
Interventions
Individualized drug matching per genetic disease
Other
Lead sponsor
Mayo Clinic
Other
Eligibility
Not listed
Enrollment
50 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2026
U.S. locations
3
States / cities
Scottsdale, Arizona • Jacksonville, Florida • Minneota, Minnesota
Source: ClinicalTrials.gov public record
Updated Jan 19, 2026 · Synced Jul 22, 2026, 2:05 AM EDT
Not listed Phase 2 Interventional

Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease

NCT00004293
View directory record Official record
Conditions
Gaucher's Disease
Interventions
glucocerebrosidase
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
18 Years to 65 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 22, 2026, 2:05 AM EDT
Completed No phase listed Observational

Pilot Study of Familial Nonsyndromal Mondini Dysplasia

NCT00004336
View directory record Official record
Conditions
Mondini Dysplasia
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1995
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 22, 2026, 2:05 AM EDT
Completed Phase 2 Interventional Results available

Open-Label PoC Trial of Ganaxolone in Children With PCDH19 Female Pediatric Epilepsy and Other Rare Genetic Epilepsies

NCT02358538
View directory record Official record
Conditions
Epilepsy
Interventions
Ganaxolone
Drug
Lead sponsor
Marinus Pharmaceuticals
Industry
Eligibility
2 Years to 18 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
9
States / cities
Phoenix, Arizona • Sacramento, California • San Francisco, California + 6 more
Source: ClinicalTrials.gov public record
Updated Mar 20, 2023 · Synced Jul 22, 2026, 2:05 AM EDT
Not listed Phase 1 Interventional

Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia

NCT00006127
View directory record Official record
Conditions
Fanconi's Anemia
Interventions
amifostine
Drug
Lead sponsor
Dana-Farber Cancer Institute
Other
Eligibility
2 Years and older
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 22, 2026, 2:05 AM EDT
Recruiting Phase 1Phase 2 Interventional

A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia

NCT06525636
View directory record Official record
Conditions
X-linked Hypophosphatemia
Interventions
KK8123
Drug
Lead sponsor
Kyowa Kirin Co., Ltd.
Industry
Eligibility
18 Years to 65 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
5
States / cities
San Francisco, California • New Haven, Connecticut • Indianapolis, Indiana + 2 more
Source: ClinicalTrials.gov public record
Updated Nov 13, 2025 · Synced Jul 22, 2026, 2:05 AM EDT
Terminated No phase listed Observational

Study of Genotype and Phenotype in Patients With Alpha 1-Antitrypsin Deficiency

NCT00005098
View directory record Official record
Conditions
Alpha 1-Antitrypsin Deficiency
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
160 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 22, 2026, 2:05 AM EDT
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 Jul 22, 2026, 2:05 AM EDT
Completed No phase listed Observational

Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

NCT01375543
View directory record Official record
Conditions
Genetic Predisposition
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
128 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 5, 2020 · Synced Jul 22, 2026, 2:05 AM EDT
Active, not recruiting Phase 2 Interventional

Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers

NCT02978625
View directory record Official record
Conditions
Anaplastic Large Cell Lymphoma, ALK-Negative, Anaplastic Large Cell Lymphoma, ALK-Positive, Apocrine Carcinoma, Carcinoma Arising From Cylindroma, Carcinoma Arising From Spiradenoma, Digital Papillary Adenocarcinoma, Endocrine Mucin-Producing Sweat Gland Carcinoma, Extramammary Paget Disease, Extraocular Sebaceous Carcinoma, Hidradenocarcinoma, Malignant Sweat Gland Neoplasm, Merkel Cell Carcinoma, Microcystic Adnexal Carcinoma, NK-Cell Lymphoma, Unclassifiable, Papillary Adenocarcinoma, Porocarcinoma, Primary Cutaneous Mucinous Carcinoma, Recurrent Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma, Recurrent T-Cell Non-Hodgkin Lymphoma, Refractory Anaplastic Large Cell Lymphoma, Refractory Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma, Refractory Merkel Cell Carcinoma, Refractory Mycosis Fungoides, Refractory Primary Cutaneous T-Cell Non-Hodgkin Lymphoma, Refractory Skin Squamous Cell Carcinoma, Refractory T-Cell Non-Hodgkin Lymphoma, Sezary Syndrome, Signet Ring Cell Adenocarcinoma, Skin Adenoid Cystic Carcinoma, Skin Adnexal Carcinoma, Skin Basal Cell Carcinoma, Skin Basosquamous Cell Carcinoma, Skin Keratoacanthoma, Skin Squamous Cell Carcinoma, Squamoid Eccrine Ductal Carcinoma, Squamous Cell Carcinoma of Unknown Primary, Sweat Gland Carcinoma, Trichilemmal Carcinoma, Vulvar Squamous Cell Carcinoma
Interventions
Biopsy Procedure, Biospecimen Collection, Computed Tomography, Laboratory Biomarker Analysis, Nivolumab, Positron Emission Mammography, Talimogene Laherparepvec
Procedure · Other · Biological
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
68 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2027
U.S. locations
36
States / cities
Los Angeles, California • Orange, California • Pasadena, California + 28 more
Source: ClinicalTrials.gov public record
Updated May 12, 2026 · Synced Jul 22, 2026, 2:05 AM EDT
Completed No phase listed Observational

Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)

NCT00004306
View directory record Official record
Conditions
Hereditary Ataxia
Interventions
Not listed
Lead sponsor
Office of Rare Diseases (ORD)
NIH
Eligibility
3 Years and older
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2009
U.S. locations
1
States / cities
Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Mar 5, 2012 · Synced Jul 22, 2026, 2:05 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 23, 2005 · Synced Jul 22, 2026, 2:05 AM EDT
Recruiting Phase 2 Interventional

Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)

NCT07123155
View directory record Official record
Conditions
Pompe Disease
Interventions
S-606001, Placebo
Drug
Lead sponsor
Shionogi
Industry
Eligibility
18 Years and older
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
9
States / cities
Irvine, California • Gainesville, Florida • Atlanta, Georgia + 6 more
Source: ClinicalTrials.gov public record
Updated Jun 22, 2026 · Synced Jul 22, 2026, 2:05 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 Jul 22, 2026, 2:05 AM EDT
Recruiting No phase listed Observational

National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases

NCT06491615
View directory record Official record
Conditions
Inherited Ophthalmic Diseases, Hypopigmentation Disorder, Corneal Dystrophy, Blue-cone Monochromacy, Best Disease, Aniridia, Albinism
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
1 Day to 120 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2054
U.S. locations
2
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 8, 2026 · Synced Jul 22, 2026, 2:05 AM EDT
Recruiting No phase listed Observational

Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome

NCT05528744
View directory record Official record
Conditions
Genetic Disease, Chopra-Amiel-Gordon Syndrome, CAGS, ANKRD17
Interventions
Observational Study, Sample collection only
Other
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
125 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Feb 16, 2026 · Synced Jul 22, 2026, 2:05 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders

NCT06839469
View directory record Official record
Conditions
Spinal Muscular Atrophy Type 3, Duchenne Muscular Dystrophy (DMD)
Interventions
Not listed
Lead sponsor
Columbia University
Other
Eligibility
5 Years and older
Enrollment
106 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2028
U.S. locations
3
States / cities
Palo Alto, California • Boston, Massachusetts • New York, New York
Source: ClinicalTrials.gov public record
Updated Apr 8, 2026 · Synced Jul 22, 2026, 2:05 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 Jul 22, 2026, 2:05 AM EDT