Clinical trials: Optic Atrophies, Hereditary
Leber Hereditary Optic Neuropathy (LHON)
Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey
The objective of this survey is to establish the clinical course of vision loss and recovery in patients with a genetically confirmed diagnosis of Leber Hereditary Optic Neuropathy (LHON).
- Trial name
- NCT01892943
- Where
- 8 sites in Belgium, Denmark and 3 more
- Volunteers
- 306 people
- Sponsor
- Santhera Pharmaceuticals
Healthy
Bioavailability of Avenanthramide-Enriched Oats in Healthy Older Adults
This is a placebo-controlled, crossover study investigating the pharmacokinetic bioavailability of avenanthramides from avenanthramide-enriched oats and their in vivo metabolites in a cohort of healthy, older adults.
- Trial name
- NCT01055717
- Testing
- Avenanthramide-enriched oats
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Tufts University
Neurodegenerative Diseases, Parkinson Disease
Neurodegenerative Diseases Progression Markers (MARKERS-NDD)
MARKERS-NDD is a prospective, observational, longitudinal study, which aims to collect data from patients affected by neurodegenerative diseases (NDD) followed longitudinally for routine examinations performed as part of normal…
- Conditions
- Neurodegenerative Diseases, Parkinson Disease, Synucleinopathies, Lewy Body Disease
- Trial name
- MARKERS-NDD (NCT06596746)
- Testing
- Observation
- Where
- Italy
- Volunteers
- 600 people
- Sponsor
- Casa di Cura San Raffaele Cassino
Optic, Atrophy, Hereditary, Leber
Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation (REVERSE)
The goal of this clinical trial is to assess the effectiveness of GS010, a gene therapy, in improving the visual outcome in participants with Leber Hereditary Optic Neuropathy (LHON) due to the G11778A ND4 mitochondrial mutation…
- Trial name
- REVERSE (NCT02652780)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 37 people
- Sponsor
- GenSight Biologics
Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant
Natural History of Autosomal Dominant Optic Atrophy (ADOA), Caused by OPA1 Mutation
The purpose of this study is to characterize the disease progression of confirmed OPA1 mutation-associated autosomal dominant optic atrophy (ADOA) by evaluating the changes in ocular structural and functional outcomes.
- Conditions
- Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant, Optic Atrophies, Hereditary, Kjer Optic Atrophy
- Trial name
- NCT06140329
- Where
- 7 sites in United States, Australia and 4 more
- Volunteers
- 1 people
- Sponsor
- PYC Therapeutics
Leber Hereditary Optic Neuropathy
Efficacy & Safety Study of Bilateral IVT Injection of GS010 in LHON Subjects Due to the ND4 Mutation for up to 1 Year
The goal of this clinical trial is to assess the efficacy and safety of GS010 gene therapy - (lenadogene nolparvovec) in subjects with LHON due to the G11778A ND4 mitochondrial mutation with a vision loss up to one year.
- Trial name
- REFLECT (NCT03293524)
- Testing
- GS010
- Where
- 13 sites in United States, Belgium and 5 more
- Volunteers
- 98 people
- Sponsor
- GenSight Biologics
LGMD2I, LGMDR9
Global FKRP Registry
Mutations in the Fukutin Related Protein (FKRP) gene cause the condition Limb Girdle Muscular Dystrophy type R9 (LGMDR9) also known as LGMD2I, and the rarer conditions Congenital Muscular Dystrophy (MDC1C), Muscle Eye Brain…
- Conditions
- LGMD2I, LGMDR9, Limb Girdle Muscular Dystrophy, Congenital Muscular Dystrophy
- Trial name
- NCT04001595
- Testing
- Patient Registry
- Where
- United Kingdom
- Volunteers
- 1,000 people
- Sponsor
- Newcastle University
Parkinson's Disease, Parkinsonian Disorders
Gait Analysis in Neurological Disease
The purpose of this study is to investigate whether speed-dependent measures of gait (so called gait signatures) can be identified in patients with neurological conditions that affect gait, particularly in subjects with…
- Conditions
- Parkinson's Disease, Parkinsonian Disorders, Atypical Parkinson Disease, Progressive Supranuclear Palsy
- Trial name
- NCT02994719
- Testing
- Anti-Parkinson medication, Deep Brain Stimulation
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
Leber Hereditary Optic Neuropathy
Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON)
This study is meant to assess the safety and efficacy of rAAV2-ND4 treatment of Leber hereditary optic neuropathy with 11778 LHON mutation.
- Trial name
- rAAV2-ND4 (NCT01267422)
- Testing
- rAAV2-ND4
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Bin Li
Retinal Degeneration, Retinal Diseases
SGLT2 Inhibitors in Geographic Atrophy
AMD is a leading cause of blindness in individuals over 50 years old, with dry AMD being the most common form. Geographic atrophy (GA) is an advanced stage of dry AMD characterized by progressive retinal cell degeneration.
- Conditions
- Retinal Degeneration, Retinal Diseases, Eye Diseases, Geographic Atrophy
- Trial name
- NCT07174687
- Testing
- Dapagliflozin
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- Washington University School of Medicine
Leber's Hereditary Optic Neuropathy (LHON)
Evaluation of Impact of Disease and Visual Disability on Quality of Life and Loss of Independence of Patients Living in France With Leber's Hereditary Optic Neuropathy (LHON) Through Qualitative and Quantitative Data Collection
Leber's hereditary optic neuropathy (LHON) is a rare mitochondrial genetic disorder characterized by optic nerve atrophy due to the degeneration of retinal ganglion cells, which leads to acute visual loss.
- Trial name
- NCT05555784
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Argo Sante
Healthy Subjects
Effect of Oat Compounds on Postprandial Glucose Response
In this project we will investigate synergistic effects of oat polar lipids and beta glucans on postprandial glucose tolerance
- Trial name
- NCT05177172
- Testing
- High beta glucans, Low beta glucans, Low beta glucans + low polar lipids
- Where
- Sweden
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Lund University
Dry Age-related Macular Degeneration
HORIZON: A Phase II Study to Evaluate the Safety and Efficacy of Two Doses of GT005
The purpose of this clinical study was to evaluate the safety and efficacy of two doses of GT005 administered as a single subretinal injection in subjects with geographic atrophy secondary to age-related macular degeneration…
- Trial name
- NCT04566445
- Testing
- GT005
- Where
- 62 sites in United States, Australia and 5 more
- Volunteers
- 255 people
- Sponsor
- Gyroscope Therapeutics Limited
Neuromuscular Diseases, Obesity (Disorder)
Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology
The ActiLiège-Adult study is a prospective, longitudinal, observational study designed to collect natural history data on adult patients with neurological or metabolic diseases affecting movement.
- Conditions
- Neuromuscular Diseases, Obesity (Disorder), Myotonic Dystrophy 1, Myasthenic Syndrome
- Trial name
- Acti-Adult (NCT07136844)
- Testing
- Syde, Dynamometric measurements of muscle strength, The 6-minute walk test (6MWT)
- Where
- Belgium
- Volunteers
- 300 people
- Sponsor
- Centre Hospitalier Universitaire de Liege
OPA1 Gene Mutation, Autosomal Dominant Optic Atrophy
Safety of Single and Repeat Dose of PYC-001 Eye Injections in People With Autosomal Dominant Optic Atrophy (Myrtle)
This study aims to gather safety data and determine the optimal dosing regimen for PYC-001 in participants with confirmed OPA1 mutation-associated ADOA.
- Conditions
- OPA1 Gene Mutation, Autosomal Dominant Optic Atrophy, Hereditary Optic Atrophies, Kjer Optic Atrophy
- Trial name
- PYC-001-CL-102 (NCT06970106)
- Testing
- PYC-001
- Where
- 3 sites in Australia, New Zealand
- Volunteers
- 24 people
- Sponsor
- PYC Therapeutics
Leber Congenital Amaurosis 10, Blindness
Extension Study to Study PQ-110-001 (NCT03140969)
Subjects completing participation in study PQ-110-001 (EudraCT 2017-000813-22 / NCT03140969) will be given the opportunity to enroll into the extension study for continued dosing if available data support current and/or future…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- INSIGHT (NCT03913130)
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 9 people
- Sponsor
- Laboratoires Thea
Leber Congenital Amaurosis 10, Blindness
Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
The purpose of this double-masked, randomized, placebo-controlled, paired-eye study is to evaluate the efficacy, safety and tolerability of Sepofarsen in subjects with Leber Congenital Amaurosis (LCA) due to the c.2991+1655A>G…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Sensation Disorders
- Trial name
- HYPERION (NCT06891443)
- Testing
- sepofarsen
- Where
- 18 sites in United States, Australia and 8 more
- Volunteers
- 32 people
- Sponsor
- Laboratoires Thea
Eye Diseases, Retinitis Pigmentosa
Safety of Cultured Allogeneic Adult Umbilical Cord or Placental Derived Mesenchymal Stem Cell Exosomes for NAION
This trial will study the safety and efficacy of intranasal delivery of cultured allogeneic adult umbilical cord or placental derived mesenchymal stem cell exosomes for the treatment of non-arteritic ischemic optic neuropathy
- Conditions
- Eye Diseases, Retinitis Pigmentosa, Diabetic Retinopathy, Macular Degeneration
- Trial name
- NCT05147701
- Testing
- cultured allogeneic adult umbilical cord or placental derived mesenchymal stem cell exosomes
- Where
- 2 sites in United States, Greece
- Volunteers
- 20 people
- Sponsor
- The Foundation for Orthopaedics and Regenerative Medicine
OPA1 Gene Mutation, Optic Atrophy, Autosomal Dominant
A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy
This prospective, monocenter, non-interventional observational study investigates the natural history as well as the clinical and genetic spectrum of OPA1-associated autosomal dominant optic atrophy.
- Trial name
- OPA-LONG (NCT07729982)
- Where
- Germany
- Volunteers
- 50 people
- Sponsor
- Ludwig-Maximilians - University of Munich
Wolfram Syndrome
I-Tracking Neurodegeneration in Early Wolfram Syndrome
Wolfram syndrome (WFS; OMIM #222300) is a rare autosomal recessive disease clinically defined in 1938 as the combination of childhood-onset insulin dependent diabetes, optic nerve atrophy, diabetes insipidus and deafness.
- Trial name
- I-TRACK (NCT03951298)
- Where
- United States
- Volunteers
- 128 people
- Sponsor
- Washington University School of Medicine