Clinical trials: SMA - Spinal Muscular Atrophy, open to volunteers
Muscular Dystrophies, Myopathies
Observational Study to Observe Variations of Gait Parameters in Patients With Neuromuscular Diseases
This study has the general objective of observing walking parameters during a clinical test to objectively estimate fatigue in patients with neuromuscular diseases.
- Conditions
- Muscular Dystrophies, Myopathies, Spinal Muscular Atrophy (SMA), Charcot Marie Tooth Disease
- Trial name
- NCT06666816
- Testing
- inapplicable
- Where
- 2 sites in Italy
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- IRCCS Eugenio Medea
Spinal Muscular Atrophy
Neonatal Spinal Muscular Atrophy (SMA) Screening
Parents or legal guardian of neonates who signed agreement will receive SMA screening test if their neonates are affected with SMA.
- Trial name
- SMA (NCT03217578)
- Testing
- SMA Newborn Screening
- Where
- Taiwan
- Volunteers
- 250,000 people, healthy volunteers welcome
- Sponsor
- Kaohsiung Medical University Chung-Ho Memorial Hospital
Androgen Insensitivity Syndrome, Metabolic Parameters in AIS, CAIS, PAIS and MAIS
Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity
Background: Androgen effects in humans are usually (but not always) mediated by the androgen receptor which is coded for by the androgen receptor gene (AR gene).
- Conditions
- Androgen Insensitivity Syndrome, Metabolic Parameters in AIS, CAIS, PAIS and MAIS, Tumor Formation in AIS, CAIS, PAIS and MAIS, Sexual Function AIS, CAIS, PAIS and MAIS
- Trial name
- NCT04708431
- Where
- United States
- Volunteers
- 650 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Neuromuscular Disorders, Neurodevelopmental Disorders
Safety, Usability, and Effectiveness of a Gait Exoskeleton for Children and Adolescents With Neurodevelopmental Disorders.
Neurodevelopmental disorders often result in abnormal development of the Central Nervous System (CNS), frequently causing motor dysfunctions such as the inability to stand and walk.
- Trial name
- NCT07159360
- Testing
- CLINICAL EXPLORER
- Where
- 2 sites in Mexico, Spain
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- MarsiBionics
Spinal Muscular Atrophy (SMA)
An International Federated Model for Wearable-derived Remote Longitudinal Motor Monitoring in Young Children With Spinal Muscular Atrophy Compared With Healthy Controls: Active-NBS Study (UK)
Active-NBS is a study to evaluate the muscle development of patients with spinal muscular atrophy (SMA) who are diagnosed at birth. Medicines have become available in the last decade, and many patients are treated very early.
- Trial name
- Active-NBS UK (NCT07543003)
- Where
- United Kingdom
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- University of Oxford
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
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
Neurodegenerative Disorders
Development of IPS from Donated Somatic Cells of Patients with Neurological Diseases
Human fibroblasts and possibly other human somatic cells may be reprogrammed into induced pluripotent stem (iPS) cells by the forced expression of transcription factors (1-5).
- Trial name
- NCT00874783
- Where
- Israel
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
Neuromuscular Diseases in Children, Respiratory Function Impaired
Respiratory Functions, Thoracoabdominal Movements and Exercise Capacity in Neuromuscular Diseases
The clinical trial titled "Investigation of Respiratory Functions, Thoracoabdominal Movements, and Exercise Capacity in Neuromuscular Diseases" aims to evaluate the respiratory functions, thoracoabdominal movements, and exercise…
- Conditions
- Neuromuscular Diseases in Children, Respiratory Function Impaired, Respiratory Insufficiency, Duchenne Muscular Dystrophy
- Trial name
- NCT06756633
- Testing
- Respiratory Function Test, Structured light plethysmography, 6 Minute Walking Test
- Where
- Turkey (Türkiye)
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Lokman Hekim 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
Spinal Muscular Atrophy Type 3, Duchenne Muscular Dystrophy (DMD)
Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders
The purpose of this research is (1) to identify disease specific walking-related digital biomarkers of disease severity, and (2) monitor longitudinal changes in natural environments, for extended periods of time, in DMD and SMA.
- Trial name
- NCT06839469
- Where
- 3 sites in United States
- Volunteers
- 106 people, healthy volunteers welcome
- Sponsor
- Columbia University
Spinal and Bulbar Muscular Atrophy, Kennedys Disease
Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)
Background: SBMA is an inherited chronic disease. It affects males in mid to late adulthood. It causes slowly progressive weakness of muscles and hand tremors. Researchers want to learn more about the effects of SBMA.
- Conditions
- Spinal and Bulbar Muscular Atrophy, Kennedys Disease, Motor Neuron Disease
- Trial name
- NCT04944940
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
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
Spinal Muscular Atrophy
A Registered Cohort Study on SMA
Spinal muscular atrophy (SMA) is an autosomal recessive disease that causes progressive muscle wasting and weakness due to loss of motor neurons in the spinal cord.
- Trial name
- NCT04010604
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Wan-Jin Chen
Spinal Muscular Atrophy (SMA), Charcot-Marie-Tooth
Assessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic Volunteers
In recent years, knowledge of neuromuscular diseases has advanced considerably, and new therapeutic avenues are beginning to emerge.
- Conditions
- Spinal Muscular Atrophy (SMA), Charcot-Marie-Tooth, Muscular Dystrophy, Myotonic Dystrophy
- Trial name
- Myokinesis (NCT07321977)
- Testing
- Gait analysis via video capture
- Where
- France
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Institut de Myologie, France