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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Conditions
Optic, Atrophy, Hereditary, Leber
Interventions
GS010, Sham Intravitreal Injection
Biological · Device
Lead sponsor
GenSight Biologics
Industry
Eligibility
15 Years and older
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
3
States / cities
Los Angeles, California • Atlanta, Georgia • Philadelphia, Pennsylvania
Conditions
Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Sensation Disorders, Vision Disorder, Neurological Manifestations, Eye Diseases, Hereditary, Eye Diseases, Eye Disorders Congenital, Retinal Disease
Interventions
sepofarsen, Placebo IVT
Drug · Other
Lead sponsor
Laboratoires Thea
Industry
Eligibility
6 Years and older
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
5
States / cities
San Francisco, California • Miami, Florida • Iowa City, Iowa + 2 more
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Early Check: Expanded Screening in Newborns

NCT03655223
Conditions
Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy, Hyperinsulinemic Hypoglycemia, Familial 1, Diabetes Mellitus, Adrenoleukodystrophy, Neonatal, Medium-chain Acyl-CoA Dehydrogenase Deficiency, Very Long Chain Acyl Coa Dehydrogenase Deficiency, Beta-ketothiolase Deficiency, Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency, Primary Hyperoxaluria Type 1, Congenital Bile Acid Synthesis Defect Type 2, Pyridoxine-Dependent Epilepsy, Hereditary Fructose Intolerance, Hypophosphatasia, Hyperargininemia, Mucopolysaccharidosis Type 6, Argininosuccinic Aciduria, Citrullinemia, Type I, Wilson Disease, Maple Syrup Urine Disease, Type 1A, Maple Syrup Urine Disease, Type 1B, Biotinidase Deficiency, Neonatal Severe Primary Hyperparathyroidism, Intrinsic Factor Deficiency, Usher Syndrome Type 1D/F Digenic (Diagnosis), Cystic Fibrosis, Stickler Syndrome Type 2, Stickler Syndrome Type 1, Alport Syndrome, Autosomal Recessive, Alport Syndrome, X-Linked, Carbamoyl Phosphate Synthetase I Deficiency Disease, Carnitine Palmitoyl Transferase 1A Deficiency, Carnitine Palmitoyltransferase II Deficiency, Cystinosis, Chronic Granulomatous Disease, Cerebrotendinous Xanthomatoses, Maple Syrup Urine Disease, Type 2, Severe Combined Immunodeficiency Due to DCLRE1C Deficiency, Thyroid Dyshormonogenesis 6, Thyroid Dyshormonogenesis 5, Supravalvar Aortic Stenosis, Factor X Deficiency, Hemophilia A, Hemophilia B, Tyrosinemia, Type I, Fructose 1,6 Bisphosphatase Deficiency, Glycogen Storage Disease Type I, G6PD Deficiency, Glycogen Storage Disease II, Galactokinase Deficiency, Mucopolysaccharidosis Type IV A, Galactosemias, Guanidinoacetate Methyltransferase Deficiency, Agat Deficiency, Glutaryl-CoA Dehydrogenase Deficiency, Gtp Cyclohydrolase I Deficiency, Hyperinsulinism-Hyperammonemia Syndrome, Primary Hyperoxaluria Type 2, 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Mitochondrial Trifunctional Protein Deficiency, Sickle Cell Disease, Beta-Thalassemia, Holocarboxylase Synthetase Deficiency, 3-Hydroxy-3-Methylglutaric Aciduria, Primary Hyperoxaluria Type 3, Hermansky-Pudlak Syndrome 1, Hermansky-Pudlak Syndrome 4, Apparent Mineralocorticoid Excess, HSDB, CBAS1, Mucopolysaccharidosis Type 2, Mucopolysaccharidosis Type 1, Severe Combined Immunodeficiency, X Linked, Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency, Diabetes Mellitus, Permanent Neonatal, Isovaleric Acidemia, Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder), Jervell and Lange-Nielsen Syndrome 2, Hyperinsulinemic Hypoglycemia, Familial, 2, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Jervell and Lange-Nielsen Syndrome 1, Lysosomal Acid Lipase Deficiency, CblF, 3-Methylcrotonyl CoA Carboxylase 1 Deficiency, 3-Methylcrotonyl CoA Carboxylase 2 Deficiency, Waardenburg Syndrome Type 2A, Methylmalonic Aciduria cblA Type, Methylmalonic Aciduria cblB Type, Methylmalonic Aciduria and Homocystinuria Type cblC, MAHCD, Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency, Congenital Disorder of Glycosylation Type 1B, Mthfr Deficiency, Methylcobalamin Deficiency Type Cbl G (Disorder), Methylcobalamin Deficiency Type cblE, Usher Syndrome, Type 1B, N-acetylglutamate Synthase Deficiency, Ornithine Transcarbamylase Deficiency, Phenylketonurias, Waardenburg Syndrome Type 1, Congenital Hypothyroidism, Propionic Acidemia, Usher Syndrome, Type 1F, Pancreatic Agenesis 1, Hereditary Hypophosphatemic Rickets, Glycogen Storage Disease IXB, Glycogen Storage Disease IXC, MOWS, Epilepsy, Early-Onset, Vitamin B6-Dependent, Pyridoxal Phosphate-Responsive Seizures, Pituitary Hormone Deficiency, Combined, 1, Ptsd, Dihydropteridine Reductase Deficiency, Severe Combined Immunodeficiency Due to RAG1 Deficiency, Severe Combined Immunodeficiency Due to RAG2 Deficiency, Retinoblastoma, Multiple Endocrine Neoplasia Type 2B, Pseudohypoaldosteronism, Type I, Liddle Syndrome, Biotin-Responsive Basal Ganglia Disease, SCD, DIAR1, GSD1C, Acrodermatitis Enteropathica, Thyroid Dyshormonogenesis 1, Riboflavin Transporter Deficiency, Waardenburg Syndrome, Type 2E, SRD, Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiency, Barth Syndrome, Adrenocorticotropic Hormone Deficiency, Transcobalamin II Deficiency, Thyroid Dyshormonogenesis 3, Segawa Syndrome, Autosomal Recessive, Autosomal Recessive Nonsyndromic Hearing Loss, Thyroid Dyshormonogenesis 2A, Congenital Isolated Thyroid Stimulating Hormone Deficiency, Hypothyroidism Due to TSH Receptor Mutations, Usher Syndrome Type 1C, Usher Syndrome Type 1G (Diagnosis), Von Willebrand Disease, Type 3, Combined Immunodeficiency Due to ZAP70 Deficiency, Adenine Phosphoribosyltransferase Deficiency, Metachromatic Leukodystrophy, Canavan Disease, Menkes Disease, Carbonic Anhydrase VA Deficiency, Developmental and Epileptic Encephalopathy 2, 17 Alpha-Hydroxylase Deficiency, Smith-Lemli-Opitz Syndrome, Krabbe Disease, Glutathione Synthetase Deficiency, Mucopolysaccharidosis Type 7, Rett Syndrome, Molybdenum Cofactor Deficiency, Type A, Niemann-Pick Disease, Type C1, Niemann-Pick Disease Type C2, Ornithine Aminotransferase Deficiency, 3-Phosphoglycerate Dehydrogenase Deficiency, Leber Congenital Amaurosis 2, Dravet Syndrome, Mucopolysaccharidosis Type 3 A, Ornithine Translocase Deficiency, Carnitine-acylcarnitine Translocase Deficiency, Glucose Transporter Type 1 Deficiency Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type A, Pitt Hopkins Syndrome, Tuberous Sclerosis 1, Tuberous Sclerosis 2, Ataxia With Isolated Vitamin E Deficiency, Angelman Syndrome, Prader-Willi Syndrome, Homocystinuria, Permanent Neonatal Diabetes Mellitus, Transient Neonatal Diabetes Mellitus, Factor VII Deficiency, Glycogen Storage Disease Type IXA1, Glycogen Storage Disease, Type IXA2, Glycogen Storage Disease IC, Glycogen Storage Disease Type IB, Central Hypoventilation Syndrome With or Without Hirschsprung Disease
Interventions
Confirmatory Testing
Diagnostic Test
Lead sponsor
RTI International
Other
Eligibility
1 Day to 31 Days
Enrollment
30,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2026
U.S. locations
1
States / cities
Research Triangle Park, North Carolina
Completed No phase listed Observational Accepts healthy volunteers

Tracking Neurodegeneration in Early Wolfram Syndrome

NCT02455414
Conditions
Type 1 Diabetes, Diabetes Insipidus, Diabetes Mellitus, Wolfram Syndrome
Interventions
Not listed
Lead sponsor
Washington University School of Medicine
Other
Eligibility
1 Day and older
Enrollment
101 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2017
U.S. locations
1
States / cities
St Louis, Missouri
Recruiting No phase listed Observational Accepts healthy volunteers

Inherited Retinal Degenerative Disease Registry

NCT02435940
Conditions
Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome, Bassen-Kornzweig Syndrome, Batten Disease, Best Disease, Choroidal Dystrophy, Choroideremia, Cone Dystrophy, Cone-Rod Dystrophy, Congenital Stationary Night Blindness, Enhanced S-Cone Syndrome, Fundus Albipunctatus, Goldmann-Favre Syndrome, Gyrate Atrophy, Juvenile Macular Degeneration, Kearns-Sayre Syndrome, Leber Congenital Amaurosis, Refsum Syndrome, Retinitis Pigmentosa, Retinitis Punctata Albescens, Retinoschisis, Rod-Cone Dystrophy, Rod Dystrophy, Rod Monochromacy, Stargardt Disease, Usher Syndrome
Interventions
Not listed
Lead sponsor
Foundation Fighting Blindness
Other
Eligibility
Not listed
Enrollment
20,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2037
U.S. locations
1
States / cities
Columbia, Maryland
Conditions
Parkinson's Disease (PD), Parkinsonism, Progressive Supranuclear Palsy (PSP), Multiple System Atrophy (MSA)
Interventions
Not listed
Lead sponsor
Milton S. Hershey Medical Center
Other
Eligibility
21 Years to 90 Years
Enrollment
290 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2019
U.S. locations
1
States / cities
Hershey, Pennsylvania
Conditions
Neurodegenerative Disease, Hereditary, Mitochondrial Diseases, Optic Atrophy
Interventions
Mutation analysis
Genetic
Lead sponsor
State University of New York at Buffalo
Other
Eligibility
0 Years to 65 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
1
States / cities
Buffalo, New York
Conditions
Leber Hereditary Optic Neuropathy (LHON)
Interventions
NFS-02 Injection
Drug
Lead sponsor
Neurophth Therapeutics Inc
Other
Eligibility
18 Years to 75 Years
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Aurora, Colorado
Conditions
Wolfram Syndrome, Diabetes Mellitus, Optic Nerve Atrophy, Ataxia
Interventions
dantrolene sodium
Drug
Lead sponsor
Washington University School of Medicine
Other
Eligibility
5 Years to 60 Years
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2023
U.S. locations
1
States / cities
St Louis, Missouri
Conditions
Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant, Optic Atrophies, Hereditary, Kjer Optic Atrophy
Interventions
Not listed
Lead sponsor
PYC Therapeutics
Industry
Eligibility
8 Years and older
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
2
States / cities
Miami, Florida • Seattle, Washington
Recruiting No phase listed Observational Accepts healthy volunteers

UPenn Observational Research Repository on Neurodegenerative Disease

NCT04715399
Conditions
Frontotemporal Degeneration(FTD), Primary Progressive Aphasia(PPA), Familial Frontotemporal Lobar Degeneration (fFTLD), Amyotrophic Lateral Sclerosis(ALS), Lewy Body Disease(LBD), Progressive Supranuclear Palsy(PSP), Corticobasal Syndrome(CBS), Posterior Cortical Atrophy(PCA), Alzheimer's Disease(AD)
Interventions
No intervention
Other
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years and older
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2070
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Not listed No phase listed Observational Accepts healthy volunteers

Diagnostic and Prognostic Biomarkers in Parkinson Disease

NCT00653783
Conditions
Parkinson Disease, Multiple System Atrophy, Progressive Supranuclear Palsy
Interventions
Not listed
Lead sponsor
The Parkinson Study Group
Network
Eligibility
18 Years and older
Enrollment
200 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2007
U.S. locations
1
States / cities
Rochester, New York
Recruiting No phase listed Observational Accepts healthy volunteers

Biofluid Research on Age-Related or Inherited Neurodegeneration

NCT07798700
Conditions
Frontotemporal Degeneration (FTD), ALS (Amyotrophic Lateral Sclerosis), Primary Progressive Aphasia (PPA), Familial Frontotemporal Lobar Degeneration (fFTLD), Fronto-temporal Lobar Dementia, Dementia With Lewy Bodies (DLB), Cortical Basal Syndrome (CBS), Alzheimer's Disease (AD), Progressive Supranuclear Palsy(PSP), Parkinson's Disease (PD), Parkinson's Disease Dementia (PDD), Limbic-predominant Age-related TDP-43 Encephalopathy (LATE), Posterior Cortical Atrophy (PCA), Primary Lateral Sclerosis (PLS), Primary Muscular Atrophy (PMA)
Interventions
Not listed
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years and older
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2070
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Conditions
Parkinson Disease, Multiple System Atrophy, Progressive Supranuclear Palsy
Interventions
Droxidopa, Placebo Oral Tablet
Drug
Lead sponsor
Loma Linda University
Other
Eligibility
50 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Loma Linda, California
Conditions
Inherited Mitochondrial Disease, Including Leigh Syndrome
Interventions
Cysteamine Bitartrate
Drug
Lead sponsor
Amgen
Industry
Eligibility
6 Years to 17 Years
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
5
States / cities
San Diego, California • Stanford, California • Akron, Ohio + 2 more
Completed No phase listed Observational Results available

I-Tracking Neurodegeneration in Early Wolfram Syndrome

NCT03951298
Conditions
Wolfram Syndrome
Interventions
Not listed
Lead sponsor
Washington University School of Medicine
Other
Eligibility
1 Day and older
Enrollment
128 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2023
U.S. locations
1
States / cities
St Louis, Missouri
Not listed Not applicable Interventional

Stem Cell Ophthalmology Treatment Study

NCT01920867
Conditions
Retinal Disease, Macular Degeneration, Hereditary Retinal Dystrophy, Optic Nerve Disease, Glaucoma
Interventions
RB (Retrobulbar), ST (Subtenon), IV (Intravenous), IVIT (Intravitreal), IO (Intraocular)
Procedure
Lead sponsor
MD Stem Cells
Industry
Eligibility
18 Years and older
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2020
U.S. locations
1
States / cities
Westport, Connecticut
Conditions
Essential Tremor, Multiple System Atrophy, Corticobasal Degeneration, Supranuclear Palsy, Progressive, Parkinson Disease
Interventions
Not listed
Lead sponsor
University of Colorado, Denver
Other
Eligibility
40 Years and older
Enrollment
81 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
1
States / cities
Aurora, Colorado
Conditions
Parkinson Disease, Multiple System Atrophy, Progressive Supranuclear Palsy
Interventions
Not listed
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
Not listed
Enrollment
90 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2026
U.S. locations
1
States / cities
Dallas, Texas
Completed No phase listed Observational

Speech Accessibility Project

NCT05889260
Conditions
Parkinson Disease, Progressive Supranuclear Palsy, Multiple System Atrophy, Dementia With Lewy Bodies
Interventions
Not listed
Lead sponsor
University of Illinois at Urbana-Champaign
Other
Eligibility
18 Years and older
Enrollment
485 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
2
States / cities
Denver, Colorado • Urbana, Illinois
Completed No phase listed Observational

REALITY LHON Registry

NCT03295071
Conditions
Leber Hereditary Optic Neuropathy
Interventions
Patient-reported outcomes (PROs)
Other
Lead sponsor
GenSight Biologics
Industry
Eligibility
Not listed
Enrollment
44 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
5
States / cities
Pasadena, California • Atlanta, Georgia • Boston, Massachusetts + 2 more
Conditions
Parkinson Disease, Parkinsonism, Dementia With Lewy Bodies, Multiple System Atrophy, Progressive Supranuclear Palsy, Corticobasal Degeneration
Interventions
punch skin biopsy
Procedure
Lead sponsor
University Hospitals Cleveland Medical Center
Other
Eligibility
21 Years to 89 Years
Enrollment
184 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2025
U.S. locations
2
States / cities
Cleveland, Ohio • South Euclid, Ohio
Conditions
Mitochondrial Diseases
Interventions
Cysteamine Bitartrate
Drug
Lead sponsor
Amgen
Industry
Eligibility
6 Years to 17 Years
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2017
U.S. locations
5
States / cities
San Diego, California • Stanford, California • Akron, Ohio + 2 more
Conditions
Leber Hereditary Optic Neuropathy (LHON)
Interventions
NR082 Injection, Injection needle
Drug · Device
Lead sponsor
Neurophth Therapeutics Inc
Other
Eligibility
18 Years to 75 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2029
U.S. locations
3
States / cities
Palo Alto, California • Aurora, Colorado • Philadelphia, Pennsylvania