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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Autosomal Recessive Clear all
Completed Phase 2 Interventional Results available

Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)

NCT03181399
View directory record Official record
Conditions
GLUT1DS1, Epilepsy, Glut1 Deficiency Syndrome 1, Autosomal Recessive, Glucose Metabolism Disorders, Glucose Transport Defect, Glucose Transporter Type 1 Deficiency Syndrome, Glucose Transporter Protein Type 1 Deficiency Syndrome
Interventions
Triheptanoin
Drug
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
24 Months to 35 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2023
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Aug 6, 2025 · Synced Jul 22, 2026, 2:06 AM EDT
Completed Not applicable Interventional Results available

Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias

NCT00244010
View directory record Official record
Conditions
Anemia, Aplastic, Amegakaryocytic Thrombocytopenia, Diamond-Blackfan Anemia, Kostmann Syndrome
Interventions
Allogeneic stem cell transplant
Device
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
Up to 21 Years
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2009
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated May 29, 2017 · Synced Jul 22, 2026, 2:06 AM EDT
Recruiting No phase listed Observational

An Observational Study in Subjects to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene

NCT06435000
View directory record Official record
Conditions
Stargardt, Stargardt's Disease, Stargardt Disease, STGD1
Interventions
Not listed
Lead sponsor
Splice Bio
Industry
Eligibility
12 Years to 65 Years
Enrollment
75 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
14
States / cities
San Diego, California • Aurora, Colorado • Gainesville, Florida + 10 more
Source: ClinicalTrials.gov public record
Updated Sep 18, 2025 · Synced Jul 22, 2026, 2:06 AM EDT
Completed Phase 1Phase 2 Interventional

Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells

NCT00730314
View directory record Official record
Conditions
Sickle Cell Disease, Thalassemia, Anemia, Granuloma, Wiskott-Aldrich Syndrome, Chediak Higashi Syndrome, Osteopetrosis, Neutropenia, Thrombocytopenia, Hurler Disease, Niemann-Pick Disease, Fucosidosis
Interventions
Hematopoietic stem cell transplantation
Procedure
Lead sponsor
Children's Hospital Los Angeles
Other
Eligibility
Up to 21 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2015
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Jun 22, 2016 · Synced Jul 22, 2026, 2:06 AM EDT
Completed Phase 1 Interventional

Treatment Development of Triheptanoin (G1D)

NCT03041363
View directory record Official record
Conditions
Epilepsy, GLUT1DS1, Glut1 Deficiency Syndrome 1, Autosomal Recessive, Glucose Metabolism Disorders, Glucose Transport Defect, Glucose Transporter Type 1 Deficiency Syndrome, Glucose Transporter Protein Type 1 Deficiency Syndrome
Interventions
Triheptanoin
Drug
Lead sponsor
Juan Pascual
Other
Eligibility
2 Years to 35 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Dec 21, 2022 · Synced Jul 22, 2026, 2:06 AM EDT
Completed Phase 2 Interventional

Study of STG-001 in Subjects With Stargardt Disease

NCT04489511
View directory record Official record
Conditions
Stargardt Disease-1
Interventions
STG-001
Drug
Lead sponsor
Stargazer Pharmaceuticals, Inc.
Industry
Eligibility
18 Years to 55 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2021
U.S. locations
5
States / cities
Phoenix, Arizona • Gainesville, Florida • Portland, Oregon + 2 more
Source: ClinicalTrials.gov public record
Updated Apr 26, 2021 · Synced Jul 22, 2026, 2:06 AM EDT
Enrolling by invitation No phase listed Observational

SLC13A5 Deficiency Natural History Study - United States Only

NCT06144957
View directory record Official record
Conditions
Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders, Genetic Disorder, SLC13A5 Deficiency, EIEE25, Kohlschutter-Tonz Syndrome (Non-ROGDI), Citrate Transporter Disorder, DEE25
Interventions
Not listed
Lead sponsor
TESS Research Foundation
Other
Eligibility
Not listed
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
3
States / cities
Palo Alto, California • Providence, Rhode Island • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Aug 4, 2025 · Synced Jul 22, 2026, 2:06 AM EDT
Recruiting Phase 1Phase 2 Interventional

Safety and Tolerability of Subretinally Injected OPGx-BEST1 in Patients With Best Vitelliform Macular Dystrophy (BVMD) or Autosomal-Recessive Bestrophinopathy (ARB)

NCT07185256
View directory record Official record
Conditions
ARB, BVMD, Autosomal-Dominant Bestrophinopathy, Best Vitelliform Macular Dystrophy
Interventions
OPGx-BEST1
Genetic
Lead sponsor
Opus Genetics, Inc
Industry
Eligibility
18 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
4
States / cities
Los Angeles, California • Gainesville, Florida • Cincinnati, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Mar 23, 2026 · Synced Jul 22, 2026, 2:06 AM EDT
Recruiting Not applicable Interventional

Treatment of Supine Hypertension in Autonomic Failure (CPAP)

NCT03312556
View directory record Official record
Conditions
Supine Hypertension, Autonomic Failure
Interventions
continuous positive airway pressure (CPAP), Placebo
Device · Drug
Lead sponsor
Vanderbilt University Medical Center
Other
Eligibility
18 Years to 85 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2026
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Nov 5, 2025 · Synced Jul 22, 2026, 2:06 AM EDT
Completed Phase 2 Interventional Results available

The Efficacy and Safety of Secukinumab in Patients With Ichthyoses

NCT03041038
View directory record Official record
Conditions
Ichthyosis, Autosomal Recessive Congenital Ichthyosis, Lamellar Ichthyosis, Congenital Ichthyosiform Erythroderma, Epidermolytic Ichthyosis, Netherton Syndrome
Interventions
Secukinumab, Placebo
Drug
Lead sponsor
Northwestern University
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2020
U.S. locations
2
States / cities
Chicago, Illinois • New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 24, 2021 · Synced Jul 22, 2026, 2:06 AM EDT
Terminated Phase 2 Interventional Results available

Study of Tepotinib Combined With Cetuximab in Participants With Left-Sided RAS/BRAF Wild Type Metastatic Colorectal Cancer (PERSPECTIVE)

NCT04515394
View directory record Official record
Conditions
Colorectal Neoplasms
Interventions
Tepotinib, Cetuximab
Drug · Biological
Lead sponsor
EMD Serono Research & Development Institute, Inc.
Industry
Eligibility
18 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
13
States / cities
Phoenix, Arizona • La Jolla, California • Santa Monica, California + 10 more
Source: ClinicalTrials.gov public record
Updated Dec 21, 2022 · Synced Jul 22, 2026, 2:06 AM EDT
Recruiting No phase listed Observational

HoFH, the International Clinical Collaborators Registry

NCT04815005
View directory record Official record
Conditions
Homozygous Familial Hypercholesterolemia
Interventions
Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.
Other
Lead sponsor
University of Pennsylvania
Other
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2026
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 17, 2025 · Synced Jul 22, 2026, 2:06 AM EDT
Recruiting Phase 1Phase 2 Interventional

Open-label Study of SKY-GJB2 in Pediatric Subjects With GJB2-mediated Hearing Loss

NCT07627971
View directory record Official record
Conditions
GJB2-mediated Hearing Loss, GJB2 Gene Mutation, DFNB1A
Interventions
SKY-GJB2
Combination Product
Lead sponsor
Skylark Bio Inc.
Industry
Eligibility
9 Months to 7 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
3
States / cities
Boston, Massachusetts • Oklahoma City, Oklahoma • Allentown, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 14, 2026 · Synced Jul 22, 2026, 2:06 AM EDT
Completed Phase 1Phase 2 Interventional

Evaluation of Safety, Tolerability, and Efficacy of INZ-701 in Adults With ENPP1 Deficiency

NCT04686175
View directory record Official record
Conditions
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy
Interventions
INZ-701
Drug
Lead sponsor
Inozyme Pharma
Industry
Eligibility
18 Years to 64 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
2
States / cities
Rochester, Minnesota • Eatontown, New Jersey
Source: ClinicalTrials.gov public record
Updated Feb 4, 2025 · Synced Jul 22, 2026, 2:06 AM EDT
Recruiting Phase 1 Interventional

The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency

NCT05734196
View directory record Official record
Conditions
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy, ATP-Binding Cassette Subfamily C Member 6 Deficiency, Pseudoxanthoma Elasticum
Interventions
INZ-701
Drug
Lead sponsor
Inozyme Pharma
Industry
Eligibility
Up to 1 Year
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
5
States / cities
San Diego, California • Boston, Massachusetts • Columbus, Ohio + 2 more
Source: ClinicalTrials.gov public record
Updated Mar 23, 2026 · Synced Jul 22, 2026, 2:06 AM EDT
Withdrawn No phase listed Observational

Using CPAP to Improve Menstruation in Women With Polycystic Ovarian Syndrome and Obstructive Sleep Apnea

NCT03155828
View directory record Official record
Conditions
Sleep Apnea, Obstructive, Anovulation, Polycystic Ovarian Syndrome
Interventions
CPAP
Device
Lead sponsor
University of Louisville
Other
Eligibility
18 Years to 35 Years · Female only
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2018
U.S. locations
1
States / cities
Louisville, Kentucky
Source: ClinicalTrials.gov public record
Updated Aug 2, 2018 · Synced Jul 22, 2026, 2:06 AM EDT
Completed Not applicable Interventional

A Trial of Cognitive Behavioral Therapy in Familial Dysautonomia

NCT03013777
View directory record Official record
Conditions
Dysthymia, Anxiety Disorders, Familial Dysautonomia, Paroxysmal Hypertension, Autosomal Recessive Disease
Interventions
8-week CBT Program
Behavioral
Lead sponsor
NYU Langone Health
Other
Eligibility
18 Years and older
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2018
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jan 28, 2019 · Synced Jul 22, 2026, 2:06 AM EDT
Active, not recruiting Phase 3 Interventional

The ENERGY 3 Study: Evaluation of Efficacy and Safety of INZ-701 in Children With ENPP1 Deficiency

NCT06046820
View directory record Official record
Conditions
Ectonucleotide Pyrophosphatase/Phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy
Interventions
INZ-701, Control Arm (Conventional Therapy)
Drug
Lead sponsor
Inozyme Pharma
Industry
Eligibility
1 Year to 12 Years
Enrollment
27 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
6
States / cities
Aurora, Colorado • Chicago, Illinois • Boston, Massachusetts + 3 more
Source: ClinicalTrials.gov public record
Updated Apr 30, 2025 · Synced Jul 22, 2026, 2:06 AM EDT
Recruiting Phase 1Phase 2 Interventional

A Study of REGN5093 in Adult Patients With Mesenchymal Epithelial Transition Factor (MET)-Altered Advanced Non-Small Cell Lung Cancer

NCT04077099
View directory record Official record
Conditions
NSCLC
Interventions
REGN5093
Drug
Lead sponsor
Regeneron Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
231 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2032
U.S. locations
18
States / cities
Birmingham, Alabama • Orange, California • Washington D.C., District of Columbia + 12 more
Source: ClinicalTrials.gov public record
Updated Jun 16, 2026 · Synced Jul 22, 2026, 2:06 AM EDT
Recruiting Phase 3 Interventional

A Study of Mavorixafor in Participants With Congenital and Acquired Primary Autoimmune and Idiopathic Chronic Neutropenic Disorders Who Are Experiencing Recurrent and/or Serious Infections

NCT06056297
View directory record Official record
Conditions
Neutropenia
Interventions
Mavorixafor, Placebo
Drug
Lead sponsor
X4 Pharmaceuticals
Industry
Eligibility
12 Years and older
Enrollment
176 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
22
States / cities
Phoenix, Arizona • Irvine, California • La Jolla, California + 19 more
Source: ClinicalTrials.gov public record
Updated Jun 4, 2026 · Synced Jul 22, 2026, 2:06 AM EDT
Completed No phase listed Observational

Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)

NCT03478839
View directory record Official record
Conditions
Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets Type2
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Year to 110 Years
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 15, 2026 · Synced Jul 22, 2026, 2:06 AM EDT
Active, not recruiting Phase 2 Interventional

Open-Label Extension: Tolerability and Effects of ALK-001 on Stargardt Disease (TEASE)

NCT04239625
View directory record Official record
Conditions
Stargardt Disease, Stargardt Macular Degeneration, Stargardt Macular Dystrophy, Autosomal Recessive Stargardt Disease 1 (ABCA4-related)
Interventions
ALK-001
Drug
Lead sponsor
Alkeus Pharmaceuticals, Inc.
Industry
Eligibility
8 Years to 70 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2026
U.S. locations
8
States / cities
Phoenix, Arizona • Los Angeles, California • Aurora, Colorado + 5 more
Source: ClinicalTrials.gov public record
Updated Apr 26, 2025 · Synced Jul 22, 2026, 2:06 AM EDT
Active, not recruiting No phase listed Observational

Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F

NCT04765345
View directory record Official record
Conditions
Retinal Degeneration, Retinitis Pigmentosa, Eye Diseases, Hereditary
Interventions
Not listed
Lead sponsor
Jaeb Center for Health Research
Other
Eligibility
8 Years and older
Enrollment
44 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
3
States / cities
San Francisco, California • Baltimore, Maryland • Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Feb 3, 2026 · Synced Jul 22, 2026, 2:06 AM EDT
Withdrawn Phase 1Phase 2 Interventional

Cardiac Hemodynamics in Overlap Syndrome (COPD With Obstructive Sleep Apnea)

NCT01261377
View directory record Official record
Conditions
Chronic Obstructive Airway Disease
Interventions
Bi-level positive airway pressure (BPAP), Oxygen, CPAP
Device · Drug
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years to 75 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
2
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jan 11, 2017 · Synced Jul 22, 2026, 2:06 AM EDT