Clinical trials: Spinal Muscular Atrophy
Non Invasive Prenatal Diagnosis
NIPD on CFTC for Triplet Repeat Diseases
The purpose of this study is to develop and validate an analytical and clinical NIPD test for triplet repeat diseases by isolated circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the…
- Trial name
- DIACCIMEX (NCT03087526)
- Testing
- Non invasive prenatal diagnosis
- Where
- 8 sites in France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
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
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
Aging, Sarcopenia
Effects of Whole-body Electrical Muscle Stimulation Exercise on Spinal Motoneuronal Activation in Older Adults
During this pilot study, the investigators will examine the effects of whole-body electrical muscle stimulation exercise (WB-EMS Exercise) on motoneuronal activation in healthy adults, which typically decreases with age.
- Conditions
- Aging, Sarcopenia, Sarcopenia in Elderly
- Trial name
- NCT06689618
- Testing
- Exercise
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
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)
Myelomeningocele, Spinal Cord Injury
Reciprocating Gait Orthoses for Paraplegia Patients
Ambulation would bring many physiological and psychological benefits and getting up and walking has been a dream for paraplegia patients.The reciprocating gait orthoses (RGOs) for paraplegics particularly draws research…
- Conditions
- Myelomeningocele, Spinal Cord Injury, Spinal Muscular Atrophy
- Trial name
- UPGO (NCT02227407)
- Testing
- RGOs(reciprocating gait orthoses)
- Where
- Taiwan
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Spinal Muscular Atrophy
Spinal Muscular Atrophy and Cardiac Autonomic Function
Respiratory dysfunction is the major cause of morbidity and mortality in patients with spinal muscular atrophy (SMA). Air stacking is a clearance airway technique frequently used but its effects on cardiac autonomic function in…
- Trial name
- NCT01522079
- Testing
- Air stacking manuever
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- Centro Universitário Augusto Motta
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
Mechanisms of Cell Death in Spinal Muscular Atrophy
Spinal muscular atrophy is a genetically based disease that affects motor neurons in the spinal cord and leads to muscle wasting and weakness.
- Trial name
- NCT01754441
- Where
- 2 sites in United States
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Nemours Children's Clinic
Polio and Post-Polio Syndrome
Safety and Immunogenicity of a Sabin Inactivated Poliovirus Vaccine.
This study is a randomized, blinded and controlled phase II study to evaluate the safety and immunogenicity of a Sabin Inactivated Poliovirus Vaccine (sIPV) in Infants.
- Trial name
- NCT03902054
- Testing
- Three-dose regimen of high dosage investigational sIPV, Three-dose regimen of medium dosage investigational sIPV, Three-dose regimen of low dosage investigational sIPV
- Where
- China
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Jiangsu Province Centers for Disease Control and Prevention
Spinal Muscular Atrophy (SMA), Neuromuscular Disease
Ultrasonographic Muscle Assessment and Functional Scales in Spinal Muscular Atrophy
This study aims to investigate the relationship between ultrasonographic muscle thickness measurement and echogenicity assessment with functional scales in children with spinal muscular atrophy (SMA).
- Trial name
- NCT06599606
- Testing
- Ultrasonographic Assessment
- Where
- Turkey (Türkiye)
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- Istanbul University - Cerrahpasa
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
Polio and Post-polio Syndrome, Fatigue
Evaluation of Fatigue Severity, Mood, and Quality of Life in Post-Polio Syndrome
The aim of this study is to investigate the differences in the severity of fatigue, impact on quality of life, and mood between individuals with post-polio syndrome and healthy volunteer groups.
- Conditions
- Polio and Post-polio Syndrome, Fatigue, Polio
- Trial name
- NCT06162104
- Testing
- No intervention
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Istanbul Physical Medicine Rehabilitation Training and Research Hospital
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
Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women
Spinal muscular atrophy (SMA) prenatal carrier screening is recommended by American College of Medical Genetics (ACMG) and American College of Obstetrics and Gynecology (ACOG).
- Trial name
- NCT04859179
- Where
- Thailand
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Mahidol University
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
Post-Polio Syndrome
Post-Poliosyndrome Treated With Intravenous Immunoglobulin (IvIg)
Inflammatory cytokines in the cerebrospinal fluid may contribute to the new muscle weakness, fatigue and pain experienced by patients with post-polio syndrome. Intravenousimmunoglobulin (IvIg) reduces this inflammation.
- Trial name
- NCT00231439
- Testing
- IvIg
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Haukeland University Hospital
Spinal Muscular Atrophy Type III, Spinal Muscular Atrophy Type II
Spinal Cord Gray Matter Imaging in Spinal Muscular Atrophy
This study aims to measure the spinal cord gray matter in patients with spinal muscular atrophy (SMA) type II and III in comparison with age- and sex-matched healthy controls (HC) using rAMIRA (radially sampled averaged…
- Trial name
- NCT06137612
- Testing
- MRI
- Where
- Switzerland
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- University Hospital, Basel, Switzerland
Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis
Answer ALS: Individualized Initiative for ALS Discovery
Creation of a large repository of induced pluripotent stem cells (iPSC), bio-fluid samples (blood and spinal fluid (optional)), and cell lines for ALS gene identification.
- Conditions
- Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis, Flail Arm ALS, Progressive Muscular Atrophy
- Trial name
- AnswerALS (NCT02574390)
- Where
- 8 sites in United States
- Volunteers
- 1,049 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Spinal Muscular Atrophy
Prospective Evaluation of Infants With Spinal Muscular Atrophy:
SPOT SMA is a prospective NIH-supported clinical study targeting pre-symptomatic or recently diagnosed infants and children with Spinal Muscular Atrophy (SMA) types 1, 2, or 3 and their healthy control siblings less than 36…
- Trial name
- SPOTSMA (NCT02831296)
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital