Clinical trials: Spinal Muscle Atrophy
Spinal Muscular Atrophy, Neonatal Hyperbilirubinemia
Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform.
In this, here we want to present a new method for analysis variation in gene copy number for patients and carriers of SMA. This is a relative quantitation method and, therefore, relies on the inclusion of one or more internal…
- Conditions
- Spinal Muscular Atrophy, Neonatal Hyperbilirubinemia, Colon Cancer
- Trial name
- NCT00154960
- Where
- Taiwan
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Healthy Volunteer, Rheumatoid Arthritis
Phenomics in Autoimmune and Inflammatory Diseases
The family of inflammatory/autoimmune systemic diseases (IAD) form a continuum from pure inflammatory diseases to pure autoimmune diseases, encompassing a large panel of inflammatory diseases with some autoimmune components, and…
- Conditions
- Healthy Volunteer, Rheumatoid Arthritis, Ankylosing Spondylitis, Systemic Lupus Erythematosus/Antiphospholipid Syndrome
- Trial name
- TRANSIMMUNOM (NCT02466217)
- Testing
- 1: AID groups, 2: Control groups
- Where
- 2 sites in France
- Volunteers
- 537 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Amyotrophic Lateral Sclerosis, Brainstem Stroke
Optimizing BCI-FIT: Brain Computer Interface - Functional Implementation Toolkit
This project adds to non-invasive BCIs for communication for adults with severe speech and physical impairments due to neurodegenerative diseases.
- Conditions
- Amyotrophic Lateral Sclerosis, Brainstem Stroke, Muscular Dystrophies, Parkinson's Disease and Parkinsonism
- Trial name
- BCI-FIT (NCT04468919)
- Testing
- BCI-FIT multi-modal access, BCI-FIT adaptive signal modeling, BCI-FIT active querying
- Where
- United States
- Volunteers
- 55 people, healthy volunteers welcome
- Sponsor
- Oregon Health and Science University
ALS (Amyotrophic Lateral Sclerosis), Postpoliomyelitis Syndrome
Impairments of Neuro-muscular Communication in Motor-Neuron Disease: A Bio-Marker for Early and Personalised Diagnosis
Motor neuron disease (MND) or ALS is a nervous system disease. ALS leads to a loss of movement ability that eventually leads to death. At the moment, there is no known treatment for ALS.
- Conditions
- ALS (Amyotrophic Lateral Sclerosis), Postpoliomyelitis Syndrome, Spinal Muscular Atrophy
- Trial name
- MotorMarker (NCT05663008)
- Testing
- 128 electrode electroencephalography (EEG), Bipolar surface electromyography (sEMG), High-density electromyography (HD-EMG)
- Where
- Ireland
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- University of Dublin, Trinity College
Lumbar Disc Herniation, Lumbar Degenerative Disease
Multivariate Analysis and Machine Learning Model Risk Prediction of Recurrent Pain After PLIF Surgery for Degenerative Lumbar Spine Disease At Long-term Follow-up
The study was a clinical retrospective study designed to investigate risk factors for long-term recurrent pain after PLIF in patients with lumbar degenerative disease and to improve patient outcomes
- Conditions
- Lumbar Disc Herniation, Lumbar Degenerative Disease, Sarcopenia
- Trial name
- NCT06622356
- Testing
- MRI with Eovist
- Where
- China
- Volunteers
- 452 people, healthy volunteers welcome
- Sponsor
- Hao Liu
Spinal Muscular Atrophy
Quantitative Analysis of SMN1 and SMN2 Gene Based on DHPLC System
In this project, we will establish the efficient and accurate gene dose determination system by combining the heterodulex analysis and gene dose analysis on DHPLC platform based on various quantitative and multiplex PCR…
- Trial name
- NCT00155168
- Where
- Taiwan
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Amyotrophic Lateral Sclerosis, Frontotemporal Dementia
TRIAL READY (Clinical Trial Readiness)
This study, being conducted under the auspice of the CReATe Consortium, will enroll patients with ALS and related disorders as well as healthy controls, with the goal of facilitating clinical validation of leading…
- Conditions
- Amyotrophic Lateral Sclerosis, Frontotemporal Dementia, ALS-Frontotemporal Dementia, Primary Lateral Sclerosis
- Trial name
- NCT03912987
- Where
- 3 sites in United States
- Volunteers
- 610 people, healthy volunteers welcome
- Sponsor
- University of Miami
Muscular Atrophy, Spinal
A Study to Investigate the Effect of Hepatic Impairment on the Pharmacokinetics and Safety and Tolerability of a Single Oral Dose of Risdiplam Compared to Matched Healthy Participants With Normal Hepatic Function
This is a multi-center, open-label, non-randomized, parallel-group, 2-part study to evaluate the effect of hepatic impairment on the PK and safety and tolerability of a single oral dose of risdiplam compared to matched healthy…
- Trial name
- NCT03920865
- Testing
- Risdiplam
- Where
- 3 sites in United States
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Hoffmann-La Roche
SMA II, Cerebral Palsy
Paracetamol Study in Patients With Low Muscle Mass
To investigate the safety and toxicity related to paracetamol treatment in children and adults with respectively SMA and CP.
- Trial name
- NCT03648658
- Testing
- Paracetamol 120Mg/5mL Oral Suspension
- Where
- Denmark
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Mette Cathrine Oerngreen
Spinal Muscular Atrophy Type I, Scoliosis
The Effect of Spinal Orthosis on the Development of Scoliosis and Chest Deformity in Type I Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a serious neuromuscular disease characterized by the degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle atrophy and denervation.
- Conditions
- Spinal Muscular Atrophy Type I, Scoliosis, Chest Deformities, Spinal Orthosis
- Trial name
- NCT05878418
- Testing
- Thoracolumbosacral Spinal Orthosis (TLSO), Trunk Exercise (TE), Pulmonary Rehabilitation(PR) and Pulmonary Care (PC)
- Where
- Turkey (Türkiye)
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Medipol University
Multiple Sclerosis, Muscular Dystrophy
Enhance Wellness for Individuals With Long-Term Physical Disabilities
This project is an adaptation trial, testing the efficacy of an evidence-based community wellness program, Enhance Wellness (http://www.projectenhance.org/enhancewellness.aspx), in a sample of middle and older-aged adults living…
- Conditions
- Multiple Sclerosis, Muscular Dystrophy, Post-polio Syndrome, Spinal Cord Injury
- Trial name
- NCT02815878
- Testing
- Enhance Wellness
- Where
- United States
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University of Washington
Spinal Muscular Atrophy, Neuromuscular Disease
Clinical Trial of Exercise in Patients With Spinal Muscular Atrophy (SMA)
This study is being conducted to test whether exercise can be effectively used as an intervention to treat Spinal Muscular Atrophy (SMA).
- Trial name
- NCT01166022
- Testing
- Exercise
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Columbia University
Healthy, Neuromuscular Disease
Electromyography to Diagnose Neuromuscular Disorders
This study will investigate problems with muscle weakness and control using electromyography-a test of nerve-muscle cell communication.
- Conditions
- Healthy, Neuromuscular Disease, Postpoliomyelitis Syndrome
- Trial name
- NCT00004553
- Testing
- Electromyography
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis
Comprehensive Analysis Platform To Understand, Remedy and Eliminate ALS
CAPTURE ALS is a long-term data and biorepository platform that will facilitate future ALS research. CAPTURE ALS will provide the standardized systems and tools necessary to collect, store, and analyze vast amounts of multimodal…
- Conditions
- Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis, Progressive Muscular Atrophy, Frontotemporal Degeneration
- Trial name
- CAPTURE ALS (NCT05204017)
- Where
- 4 sites in Canada
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University of Alberta
Obstructive Sleep Apnea, Amyotrophic Lateral Sclerosis
Transmembrane Electromyography (TM-EMG) for the Assessment of Neuromuscular Function in the Oropharynx
This is a pilot study to examine the diagnostic utility of a novel transmembrane surface sensor, and compare signals obtained with the transmembrane sensor to conventional needle EMG signals from healthy volunteers to those with…
- Conditions
- Obstructive Sleep Apnea, Amyotrophic Lateral Sclerosis, Muscular Dystrophies, Healthy
- Trial name
- NCT03986671
- Testing
- Transmembrane EMG Oropharynx Probe
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Powell Mansfield Inc.
Sarcopenia
Combined Exercise and Nutrition Intervention for Spinal Sarcopenia
Sarcopenia in the lumbar paraspinal muscles is receiving renewed attention as a cause of spinal degeneration. However, there were few studies on the precise concept and diagnostic criteria for spinal sarcopenia.
- Trial name
- NCT04810312
- Testing
- Combined exercise and nutrition intervention
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Seoul National University Hospital
Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia
Phenotype, Genotype and Biomarkers 2
The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic…
- Conditions
- Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, Progressive Muscular Atrophy
- Trial name
- PGB2 (NCT04875416)
- Where
- 4 sites in United States, South Africa
- Volunteers
- 217 people, healthy volunteers welcome
- Sponsor
- University of Miami
Duchenne Muscular Dystrophy (DMD), Spinal Muscular Atrophy (SMA)
Self-Efficacy Enhancement Among Online Support Group of Primary Caregivers of Children With Neuro Muscular Dystrophy
The goal of this clinical trial is to learn if providing a multicomponent intervention improves the confidence of caregivers of children with DMD or SMA.
- Trial name
- SEE-NMD (NCT07356063)
- Testing
- Multicomponent Intervention
- Where
- Pakistan
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- Aga Khan University
Spinal Muscular Atrophy (SMA), Spinal Muscular Atrophy Type I
Psychological Evaluation of the Parental Experience of Newborn Screening for Infantile Spinal Muscular Atrophy in the Grand Est and Nouvelle-Aquitaine Regions
The systematic inclusion of spinal muscular atrophy (SMA) in France's neonatal genetic screening (NGS) program, scheduled for September 2025, represents a major milestone in public health.
- Trial name
- PSYSMA (NCT07208903)
- Testing
- focus group discussions, Interview with the psychologist
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Pompe Disease (Late-onset), Myotonic Dystrophy Type 1 (DM1)
Musculoskeletal Nociceptive Pain in Participants With Neuromuscular Disorders
The primary aim is to characterize the prevalence, severity and quality of musculoskeletal nociceptive pain in adult patients with neuromuscular disorders (NMD).
- Conditions
- Pompe Disease (Late-onset), Myotonic Dystrophy Type 1 (DM1), Myotonic Dystrophy Type 2, Spinal Muscular Atrophy Type 3
- Trial name
- NCT04907162
- Testing
- Beck depression inventory fast screen, German Pain Inventory, Brief Pain Inventory
- Where
- Germany
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- LMU Klinikum