Clinical trials: Muscular Atrophy, Spinal, open to volunteers
Muscular Atrophy, Spinal
A Study to Find Out How Nusinersen is Processed in the Body When Given Through the ThecaFlex DRx™ System in Adult and Pediatric Participants With Spinal Muscular Atrophy (PIERRE-PK)
In this PIERRE-PK study, researchers will learn how the body processes nusinersen when it is given through the ThecaFlex DRx™ System, compared to when nusinersen is given by lumbar puncture (LP).
- Trial name
- PIERRE-PK (NCT06555419)
- Testing
- Nusinersen, ThecaFlex DRx System
- Where
- 21 sites in United States, France and 5 more
- Volunteers
- 78 people
- Sponsor
- Biogen
Spinal Muscular Atrophy (SMA)
Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy (SMA) is a neurogenetic disorder caused by a loss or mutation in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor…
- Trial name
- NCT04174157
- Testing
- Prospective observational registry, Zolgensma
- Where
- 99 sites in United States, Greece and 9 more
- Volunteers
- 700 people
- Sponsor
- Novartis Pharmaceuticals
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
Spinal Muscular Atrophy
Long Term Trajectories of SMA Patients Receiving or Not Disease-modifying Treatments
This is an observational multicenter retrospective and prospective study on natural history of SMA also considering the 'new natural history' secondary to the availability of commercially available therapies.
- Trial name
- NCT05768048
- Where
- 5 sites in Italy
- Volunteers
- 500 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
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
Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 1 Patients
The study will evaluate safety and efficacy of intrathecal delivery of GC101 gene therapy drug as a treatment of spinal muscular atrophy Type 1 (SMA 1) patients.
- Trial name
- NCT05824169
- Testing
- GC101
- Where
- 4 sites in China
- Volunteers
- 18 people
- Sponsor
- GeneCradle Inc
Muscular Atrophy, Spinal
A Study to Learn About Salanersen's (BIIB115) Effects on Movement and Its Safety When Given Before Symptoms Appear in Babies With Genetically Diagnosed Spinal Muscular Atrophy (SMA)
In this study, researchers will learn more about the effects and safety of BIIB115, also known as salanersen. Specifically, researchers will learn more about how salanersen works in babies who have been diagnosed with SMA through…
- Trial name
- STELLAR-1 (NCT07221669)
- Testing
- Salanersen
- Where
- 14 sites in United States, Australia and 5 more
- Volunteers
- 30 people
- Sponsor
- Biogen
Spinal Muscular Atrophy
A Registry Based Randomized-Controlled Trial of an Upper Limb Exergaming Intervention for Children and Adolescents With Spinal Muscular Atrophy
This is a multisite randomized controlled registry-based trial to evaluate the efficacy of an 8-week home-based exergaming intervention as compared to usual care on occupational satisfaction of children and youth (8-18 years old…
- Trial name
- INFORM SMA (NCT06396325)
- Testing
- Tales from the Magic Keep™, Usual Care
- Where
- 5 sites in Canada
- Volunteers
- 22 people
- Sponsor
- Maryam Oskoui, MD, MSc, FRCPC, FAAN
Spinal Muscular Atrophy (SMA)
Neuroproprioceptive Equine-Assisted Physiotherapy for Spinal Muscular Atrophy
This study investigates whether Equine-Assisted Physiotherapy based on Neuro-proprioceptive "Facilitation and Inhibition" (NEUROEQUIP-SMA) can improve movement, posture, breathing, and quality of life in children with spinal…
- Trial name
- NEUROEQUIP (NCT07336602)
- Testing
- Equine-Assisted Physiotherapy based on Neuro-proprioceptive "Facilitation and Inhibition", Standard Individual Outpatient Physiotherapy Based on Neuro-proprioceptive Facilitation and Inhibition, Therapeutic grooming
- Where
- 4 sites in Czechia
- Volunteers
- 20 people
- Sponsor
- Charles University, Czech Republic
Spinal Muscular Atrophy
A Long-term Follow-up Study Evaluating Intravenous Injection of EXG001-307 in Patients With Type 1 SMA
An Open-label, Long-term Follow-Up Study to Evaluate the Safety and Tolerability of Gene Therapy with EXG001-307 in SMA1 patients ,who joined the parent study (EXG001-307-102)
- Trial name
- NCT06588803
- Testing
- No intervention, only for observational studies
- Where
- China
- Volunteers
- 18 people
- Sponsor
- Guangzhou Jiayin Biotech Ltd
Spinal Muscular Atrophy, SMA
UK SMA Patient Registry
Spinal muscular atrophy (SMA) is a form of motor neuron disease, most commonly caused by a mutation in the survival motor neuron 1 gene (SMN1) which results in a wide disease spectrum affecting children and adults.
- Trial name
- NCT04292574
- Testing
- Patient Registry
- Where
- United Kingdom
- Volunteers
- 800 people
- Sponsor
- Newcastle University
Neuromuscular Diseases (NMD), ALS (Amyotrophic Lateral Sclerosis)
Invasive Home Ventilation in Denmark
The aim of this study is to describe national trends over the past 10 years in patients receiving invasive home mechanical ventilation (HMV) in Denmark.
- Conditions
- Neuromuscular Diseases (NMD), ALS (Amyotrophic Lateral Sclerosis), Spinal Cord Injuries (SCI), Duchenne Muscular Dystrophy (DMD)
- Trial name
- HOMEVENT DK (NCT07467187)
- Where
- Denmark
- Volunteers
- 450 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Spinal Muscular Atrophy (SMA)
Diagnostic Journey, Patient Experience, and Disparities in the Treatment of Spinal Muscular Atrophy (SMA) in the MedStar Health System
Evaluate the diagnostic journey, patient experience, and disparities in the treatment of Spinal Muscular Atrophy (SMA) in the MedStar Health System.
- Trial name
- SMA (NCT07223489)
- Testing
- Telephone Interview
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Medstar Health Research Institute
Spinal Muscular Atrophy (SMA)
Effects of Different Stiffness Settings During Robotic Isokinetic Training in Children With SMA
This randomized, within-participant, contralateral-limb-controlled clinical trial will compare individually optimized compliant and rigid stiffness settings of a portable isokinetic knee training robot in children with spinal…
- Trial name
- NCT07822711
- Testing
- Portable Isokinetic Knee Training Robot With an Individually Optimized Compliant Setting, Portable Isokinetic Knee Training Robot With a Rigid Setting
- Where
- China
- Volunteers
- 13 people
- Sponsor
- Peking University Third Hospital
Spinal Muscular Atrophy Type 2
GCB-001 in Treatment of Patients With Type II (SMA) Spinal Muscular Atrophy
This study explored dose escalation of single-arm, open, single intrathecal injection in patients with delayed onset type 2 SMA. The investigator plans to conduct 2 cohorts.
- Trial name
- GITOPWTSMA (NCT06772402)
- Testing
- GCB-001
- Where
- China
- Volunteers
- 6 people
- Sponsor
- Genecombio Ltd.
Spinal Muscular Atrophy
Exploring the Physiologic, Pharmacodynamic, and Clinical Responses of Skeletal Muscle in Patients With Spinal Muscular Atrophy Treated With SMN-Directed Therapies
In this observational study, researchers are looking at the effects of spinal muscular atrophy (SMA) drugs on the muscles and nerve cells in patients with SMA.
- Trial name
- NCT06532474
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- St. Jude Children's Research Hospital
SMA - Spinal Muscular Atrophy
Adrenal& Bone Complications in Paediatric Patients Living With Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy (SMA) is a genetic disorder that is known to cause damage to specialised nerve cells, called motor neurons.
- Trial name
- SMA-ABC (NCT07530926)
- Where
- United Kingdom
- Volunteers
- 550 people
- Sponsor
- Sheffield Children's NHS Foundation Trust
ALS (Amyotrophic Lateral Sclerosis), SMA - Spinal Muscular Atrophy
Register for Medical Data, Functional Scales, and Care Outcomes in ALS, SMA, and Other Motor System Disorders
This observational registry collects existing medical and routine care data from people with amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and other motor system disorders.
- Conditions
- ALS (Amyotrophic Lateral Sclerosis), SMA - Spinal Muscular Atrophy, Spinal Cord Diseases, Central Nervous System Diseases
- Trial name
- NCT07900672
- Testing
- Standard of Care (Investigator Choice)
- Where
- Germany
- Volunteers
- 2,000 people
- Sponsor
- Ambulanzpartner Soziotechnologie APST GmbH
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
Frontotemporal Degeneration (FTD), ALS (Amyotrophic Lateral Sclerosis)
Biofluid Research on Age-Related or Inherited Neurodegeneration
The aim of this study is to contribute to and continue to sustain a repository of blood samples, nucleic acid (DNA and/or RNA) samples, family history information, and other demographic information from individuals with…
- Conditions
- Frontotemporal Degeneration (FTD), ALS (Amyotrophic Lateral Sclerosis), Primary Progressive Aphasia (PPA), Familial Frontotemporal Lobar Degeneration (fFTLD)
- Trial name
- BRAIN (NCT07798700)
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania