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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Conditions
Gyrate Atrophy
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
Not listed
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1978 – 2004
U.S. locations
1
States / cities
Bethesda, Maryland
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
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
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
Enrolling by invitation No phase listed Observational

SLC13A5 Deficiency Natural History Study - Remote Only

NCT04681781
Conditions
Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders, Genetic Disorder, SLC13A5 Deficiency, EIEE25, Kohlschutter-Tonz Syndrome (non-ROGDI), 17p13.1 Deletions Confined to SLC13A5 Gene, Citrate Transporter Disorder
Interventions
Not listed
Lead sponsor
TESS Research Foundation
Other
Eligibility
Not listed
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
1
States / cities
Palo Alto, California
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
Conditions
Hurler Syndrome, Fanconi Anemia, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome, Chronic Granulomatous Disease, Severe Congenital Neutropenia, Leukocyte Adhesion Deficiency, Shwachman-Diamond Syndrome, Diamond-Blackfan Anemia, Dyskeratosis-congenita, Chediak-Higashi Syndrome, Severe Aplastic Anemia, Thalassemia Major, Hemophagocytic Lymphohistiocytosis, Sickle Cell Disease
Interventions
Abatacept
Drug
Lead sponsor
Emory University
Other
Eligibility
Up to 21 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2019
U.S. locations
1
States / cities
Atlanta, Georgia
Conditions
Glycogen Storage Disease
Interventions
mRNA-3745
Drug
Lead sponsor
ModernaTX, Inc.
Industry
Eligibility
6 Years and older
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
8
States / cities
Farmington, Connecticut • Boston, Massachusetts • Durham, North Carolina + 4 more
Conditions
Spinocerebellar Ataxias, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 6, Spinocerebellar Ataxia Type 7, Spinocerebellar Ataxia Type 8, Spinocerebellar Ataxia Type 10, Spinocerebellar Ataxia Type 17, ARCA1 - Autosomal Recessive Cerebellar Ataxia Type 1
Interventions
CAD-1883, Placebos
Drug
Lead sponsor
Cadent Therapeutics
Industry
Eligibility
18 Years to 75 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
6
States / cities
Long Beach, California • Los Angeles, California • Aurora, Colorado + 3 more
Conditions
Bone Marrow Failure Syndrome, Severe Aplastic Anemia, Severe Congenital Neutropenia, Amegakaryocytic Thrombocytopenia, Diamond-Blackfan Anemia, Schwachman Diamond Syndrome, Primary Immunodeficiency Syndromes, Acquired Immunodeficiency Syndromes, Histiocytic Syndrome, Familial Hemophagocytic Lymphocytosis, Lymphohistiocytosis, Macrophage Activation Syndrome, Langerhans Cell Histiocytosis (LCH), Hemoglobinopathies, Sickle Cell Disease, Sickle Cell-beta-thalassemia
Interventions
CD34 Stem Cell Selection Therapy
Biological
Lead sponsor
Diane George
Other
Eligibility
Up to 40 Years
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2030
U.S. locations
1
States / cities
New York, New York
Conditions
Sickle Cell Disease, Transfusion Dependent Alpha- or Beta- Thalassemia, Diamond Blackfan Anemia, Paroxysmal Nocturnal Hemoglobinuria, Glanzmann Thrombasthenia, Severe Congenital Neutropenia, Shwachman-Diamond Syndrome, Non-Malignant Hematologic Disorders
Interventions
Reduced Toxicity Ablative Regimen, Reduced Intensity Preparative Regimen, Myeloablative Preparative Regimen
Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 55 Years
Enrollment
38 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2024
U.S. locations
1
States / cities
Minneapolis, Minnesota
Conditions
Stargardt Disease, Stargardt Macular Degeneration, Stargardt Macular Dystrophy, Autosomal Recessive Stargardt Disease 1 (ABCA4-related)
Interventions
ALK-001, Placebo
Drug
Lead sponsor
Alkeus Pharmaceuticals, Inc.
Industry
Eligibility
8 Years to 70 Years
Enrollment
160 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2026
U.S. locations
14
States / cities
Phoenix, Arizona • Los Angeles, California • Aurora, Colorado + 11 more
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
Active, not recruiting No phase listed Observational

Pathogenetic Basis of Aortopathy and Aortic Valve Disease

NCT03440697
Conditions
Aortopathies, Thoracic Aortic Aneurysm, Aortic Valve Disease, Thoracic Aortic Disease, Thoracic Aortic Dissection, Thoracic Aortic Rupture, Ascending Aortic Disease, Descending Aortic Disease, Ascending Aortic Aneurysm, Descending Aortic Aneurysm, Marfan Syndrome, Loeys-Dietz Syndrome, Vascular Ehlers-Danlos Syndrome, Shprintzen-Goldberg Syndrome, Turner Syndrome, PHACE Syndrome, Autosomal Recessive Cutis Laxa, Congenital Contractural Arachnodactyly, Arterial Tortuosity Syndrome, Bicuspid Aortic Valve-Associated Aortopathy, Bicuspid Aortic Valve, Familial Thoracic Aortic Aneurysm and Aortic Dissection
Interventions
Not listed
Lead sponsor
Yale University
Other
Eligibility
Not listed
Enrollment
3,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2030
U.S. locations
2
States / cities
Atlanta, Georgia • Indianapolis, Indiana
Conditions
Ciliopathy
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
5 Months to 80 Years
Enrollment
374 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2021
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Stargardt Disease
Interventions
ALK-001, Placebo
Drug
Lead sponsor
Alkeus Pharmaceuticals, Inc.
Industry
Eligibility
8 Years to 45 Years
Enrollment
230 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2030
U.S. locations
5
States / cities
Phoenix, Arizona • Gainesville, Florida • Erie, Pennsylvania + 2 more
Conditions
Alport Syndrome, X-Linked, Alport Syndrome, Autosomal Recessive
Interventions
Exaluren
Drug
Lead sponsor
Eloxx Pharmaceuticals, Inc.
Industry
Eligibility
12 Years and older
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
8
States / cities
Los Angeles, California • Stanford, California • Denver, Colorado + 5 more
Conditions
p47, Autosomal Recessive, Chronic Granulomatous Disease
Interventions
Cryopreserved Autologous CD34+ cells transduced with pCCLCHIM-p47
Biological
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
3 Years to 65 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
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
Conditions
Hereditary Spastic Paraplegia, Neurodegenerative Diseases, Pediatric Disorder, Spasticity, Muscle, Motor Neuron Disease, Movement Disorders
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
1 Month to 30 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission, Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia, Acute Myeloid Leukemia With FLT3/ITD Mutation, Acute Myeloid Leukemia With Gene Mutations, Aplastic Anemia, B-Cell Non-Hodgkin Lymphoma, CD40 Ligand Deficiency, Chronic Granulomatous Disease, Chronic Leukemia in Remission, Chronic Lymphocytic Leukemia, Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Chronic Myelomonocytic Leukemia, Chronic Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Congenital Amegakaryocytic Thrombocytopenia, Congenital Neutropenia, Congenital Pure Red Cell Aplasia, Glanzmann Thrombasthenia, Immunodeficiency Syndrome, Myelodysplastic Syndrome, Myelofibrosis, Myeloproliferative Neoplasm, Paroxysmal Nocturnal Hemoglobinuria, Plasma Cell Myeloma, Polycythemia Vera, Recurrent Non-Hodgkin Lymphoma, Refractory Non-Hodgkin Lymphoma, Secondary Acute Myeloid Leukemia, Secondary Myelodysplastic Syndrome, Severe Aplastic Anemia, Shwachman-Diamond Syndrome, Sickle Cell Disease, T-Cell Non-Hodgkin Lymphoma, Thalassemia, Waldenstrom Macroglobulinemia, Wiskott-Aldrich Syndrome
Interventions
Cyclophosphamide, Fludarabine Phosphate, Laboratory Biomarker Analysis, Peripheral Blood Stem Cell Transplantation, Total-Body Irradiation
Drug · Other · Procedure + 1 more
Lead sponsor
Roswell Park Cancer Institute
Other
Eligibility
1 Year to 75 Years
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2023
U.S. locations
1
States / cities
Buffalo, New York
Conditions
Chronic Granulomatous Disease (CGD)
Interventions
Not listed
Lead sponsor
Ensoma
Industry
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
50
States / cities
Montgomery, Alabama • Phoenix, Arizona • Little Rock, Arkansas + 47 more
Conditions
Macular Degeneration
Interventions
Docosahexaenoic Acid (DHA) Dietary Supplement
Drug
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
Not listed
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2007
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Neuronal Ceroid-Lipofuscinoses, Neuronal Ceroid Lipofuscinosis CLN2, Spinocerebellar Ataxia, Autosomal Recessive 7
Interventions
Not listed
Lead sponsor
Children's Hospital of Orange County
Other
Eligibility
4 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2026
U.S. locations
1
States / cities
Orange, California