Clinical trials: Multiple System Atrophy
Healthy Volunteer, Muscular Atrophy, Spinal
A Study to Learn About the Safety of BIIB115 Injections and How BIIB115 is Processed in the Bodies of Healthy Adult Male Volunteers and of Pediatric Participants With Spinal Muscular Atrophy Who Previously Took Onasemnogene Abeparvovec
In this study, researchers will learn about a study drug called BIIB115 in healthy adult male volunteers and in participants with spinal muscular atrophy (SMA). This study will focus on children with SMA.
- Trial name
- NCT05575011
- Testing
- BIIB115
- Where
- 16 sites in Belgium, Canada and 7 more
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Biogen
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
Parkinson Disease, MSA - Multiple System Atrophy
Exploring the Olfactory Mucosa, Blood and Urine for the Identification of Early Biomarkers of Parkinson's Disease, Atypical Parkinsonisms and Neurocognitive Disorders Due to Lewy Body Disease
Clinical diagnosis of Parkinson's disease (PD), multiple system atrophy (MSA) and dementia with Lewy bodies (DLB) is challenging, especially in the early stages.
- Conditions
- Parkinson Disease, MSA - Multiple System Atrophy, Lewy Body Dementia (LBD), Neurodegenerative Disease
- Trial name
- EXTRAORDINARY (NCT06846658)
- Where
- 3 sites in Italy
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
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
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
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
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
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
Duchenne Muscular Dystrophy, Exon 44
Study of AOC 1044 in Healthy Adult Volunteers and Participants With Duchenne Muscular Dystrophy (DMD) Mutations Amenable to Exon 44 Skipping
AOC 1044-CS1 (EXPLORE44) is a Phase 1/2 study to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamic effects of single and multiple ascending doses of AOC 1044 in healthy adult volunteers and participants…
- Trial name
- EXPLORE44 (NCT05670730)
- Testing
- AOC 1044
- Where
- 10 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Avidity Biosciences, Inc.
Myotonic Dystrophy 1
Chinese Multicenter Clinical Outcome Cohort Study of Myotonic Dystrophy Type 1 (C-DMCOS-DM1)
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder caused by an expanded CTG trinucleotide repeat in the 3' untranslated region of the DMPK gene.
- Trial name
- C-DMCOS-DM1 (NCT06101940)
- Testing
- MRI scan, Electrocardiography, Pulmonary function test
- Where
- 22 sites in China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Huashan Hospital
Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors
Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.
- Conditions
- Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors, Carbohydrate Metabolism, Inborn Errors, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT02635269
- Testing
- Sugar
- Where
- Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
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
Spinal Muscular Atrophy (SMA)
Advanced Multi-omics and -System Approaches to Identify Novel Biomarkers for SMA
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder caused by mutations in the SMN1 gene, leading to motor neuron degeneration and progressive muscle atrophy.
- Trial name
- MOSAiC-SMA (NCT07883655)
- Where
- 3 sites in Italy
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Istituto Giannina Gaslini
Duchenne Muscular Dystrophy
DART Electrical Impedance Myography (EIM) Trial in Duchenne Muscular Dystrophy (DMD) and Healthy Controls
Physicians seek a method to assess neuromuscular disease that is both non-invasive and quantifiable. Many patients do not tolerate standard current day assessment tools (such as needle electromyogram), and Electrical Impedance…
- Trial name
- NCT01523964
- Testing
- Testing with EIM
- Where
- 6 sites in United States
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- Dart Therapeutics. LLC
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
Primary Ciliary Dyskinesia (PCD)
Comparison of Individuals With Primary Ciliary Dyskinesia and Healthy Controls
To date, the literature has not yet elucidated the status of malnutrition and sarcopenia in children and adolescents with PCD compared to healthy controls.
- Trial name
- NCT07740551
- Testing
- Physical Evaluations in Children with Primary Ciliary Dyskinesia, Physical Evaluations in Healthy Children
- Where
- Turkey (Türkiye)
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Izmir Democracy University
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International