Clinical trials: Optic Atrophy
Optic Atrophy, Autosomal Dominant
Advanced Characterization of Autosomal Dominant Optic Atrophy
The purpose of this study is to determine the anatomy of the retina and the optic nerve in patients with autosomal dominant optic atrophy (ADOA).
- Trial name
- NCT01522638
- Where
- Denmark
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Glostrup University Hospital, Copenhagen
Parkinson's Disease, Progressive Supranuclear Palsy(PSP)
Study on Artificial Intelligence-Based Facial and Speech-Related Patterns in Parkinson's Disease and Their Digital Biomarkers
This research employs AI to analyze facial expressions and speech patterns, aiming to develop new digital tools for diagnosing and differentiating Parkinson's disease and similar disorders.
- Conditions
- Parkinson's Disease, Progressive Supranuclear Palsy(PSP), Multiple System Atrophy, Healthy Control
- Trial name
- NCT07392411
- Testing
- video recording
- Where
- China
- Volunteers
- 720 people, healthy volunteers welcome
- Sponsor
- Beijing Tiantan Hospital
Healthy, Muscular Dystrophy
Studies of Patients With Skin Disease, Patients With Neurological Degenerations, and Normal Volunteers
It is proposed that patients with skin disease due to presumed immunologic, genetic or viral-induced abnormalities, patients with neurological degenerations, and normal controls be evaluated with various in vitro studies of…
- Conditions
- Healthy, Muscular Dystrophy, Retinal Degeneration, Skin Diseases
- Trial name
- NCT00001164
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Type 1 Diabetes, Diabetes Insipidus
Tracking Neurodegeneration in Early Wolfram Syndrome
The goal of this study is to determine the pattern of early neurodegenerative changes in WFS (Wolfram Syndrome). The investigator will perform cross-sectional and longitudinal assessments of youth with WFS, targeting sensitive…
- Conditions
- Type 1 Diabetes, Diabetes Insipidus, Diabetes Mellitus, Wolfram Syndrome
- Trial name
- TRACK (NCT02455414)
- Where
- United States
- Volunteers
- 101 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Mitochondrial Disorders, Mitochondrial Genetic Disorders
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes
- Trial name
- NAMDC (NCT01694940)
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Atherosclerosis, Hypercholesterolemia
Impact of Consumption of Oats in Lipid Profile of Children and Adolescents With Dyslipidemia
Atherosclerosis is the leading cause of death and disability in adults. However, investigations suggest that the basic pathology of heart disease as more severe myocardial infarction which usually reach mainly middle-aged or…
- Trial name
- NCT01581697
- Testing
- Oat bran
- Where
- Brazil
- Volunteers
- healthy volunteers welcome
- Sponsor
- Instituto de Cardiologia do Rio Grande do Sul
Optic Atrophy, Hereditary, Leber
A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON)
Background Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited ocular disorder associated with a mutation in mtDNA .
- Trial name
- NCT00528151
- Testing
- curcumin
- Where
- Thailand
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Mahidol University
Cardiovascular Diseases, Coronary Heart Disease
Meta-analysis of Oat Fiber and Cardiovascular Risk Reduction
Oat fibre has been shown to lower cholesterol and may have cardioprotective effects. However, whether this translates to actual cardiovascular risk reduction is unclear, as there is a lack of controlled human trials.
- Trial name
- NCT05171283
- Testing
- Oats or Oat Fibre
- Where
- Canada
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- University of Toronto
Eye Diseases Hereditary, Retinal Disease
Inherited Retinal Degenerative Disease Registry
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation.
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome
- Trial name
- MRTR (NCT02435940)
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Foundation Fighting Blindness
Stargardts, Retinitis Pigmentosa
High Resolution Retinal Imaging
Studying the morphology and function of the normal and diseased retina in vivo is needed for advancing the detection, diagnosis, and treatment of retinal disease.
- Conditions
- Stargardts, Retinitis Pigmentosa, Age-related Macular Degeneration, Choroideremia
- Trial name
- AOSLO (NCT01866371)
- Testing
- Retinal imaging
- Where
- United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Age-related Macular Degeneration (AMD)
Measuring Geographic Atrophy in AMD Patients Using the Nidek MP-3 Microperimetry Device
The investigators would like to know if different imaging devices can improve the quality of images and visualization of imaged tissues.
- Trial name
- NCT02445313
- Testing
- Nidek MP-3
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Doheny Image Reading Center
Duchenne Muscular Dystrophy
Magnetic Resonance and Optical Imaging of Dystrophic and Damaged Muscle
The purpose of this research study is to determine the potential of Optical Imaging techniques to detect muscle damage in boys with Duchenne Muscular Dystrophy and unaffected exercised muscle.
- Trial name
- NCT02168114
- Testing
- Exercising, Optical and Magnetic Resonance Imaging and Spectroscopy
- Where
- United States
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- University of Florida
Primary Parkinsonism, Secondary Vascular Parkinson Disease
Application of Machine Learning Method in Validation of Screening Cognitive Test for Parkinsonisms
Based on a prospectively collected data analysis, a new tool, namely CoMDA (Cognition in Movement Disorders Assessment) is developed by merging each item of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment…
- Conditions
- Primary Parkinsonism, Secondary Vascular Parkinson Disease, Multiple System Atrophy, Supranuclear Palsy, Progressive
- Trial name
- CoMDA-ML-P (NCT04858893)
- Testing
- CoMDA associated with Neural Net 91 classificator
- Where
- Italy
- Volunteers
- 562 people, healthy volunteers welcome
- Sponsor
- Ospedale Generale Di Zona Moriggia-Pelascini
Parkinson Disease, Multiple System Atrophy
Facilitating Diagnostics and Prognostics of Parkinsonian Syndromes Using Neuroimaging
The goals of this study are: 1) to identify biomarkers using neuroimaging that are associated with progression rate using statistical methods, and 2) to identify biomarkers that are associated with the differential diagnosis of…
- Conditions
- Parkinson Disease, Multiple System Atrophy, Progressive Supranuclear Palsy
- Trial name
- NCT03872102
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Diabetes Mellitus, Type 1, Monogenic Diabetes
Monogenic Diabetes Misdiagnosed as Type 1
The study has two aims: 1. To (1a) determine the frequency of monogenic diabetes misdiagnosed as type 1 diabetes (T1D) and (2) to define an algorithm for case selection. 2.
- Conditions
- Diabetes Mellitus, Type 1, Monogenic Diabetes, Neonatal Diabetes, Maturity-onset Diabetes in the Young (MODY)
- Trial name
- ADDAM (NCT03988764)
- Testing
- None AHT
- Where
- Canada
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre