Clinical trials: Muscular Atrophy, open to volunteers
SMARD1, CMT2S
Gene Therapy for IGHMBP2-Related Diseases
Open-label, single intrathecal injection study of a AAV9 vector carrying the IGHMBP2 gene for IGHMBP2-related diseases.
- Trial name
- NCT05152823
- Testing
- Gene Therapy
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Megan Waldrop
Muscular Atrophy, Spinal
A Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Participants With Spinal Muscular Atrophy After Gene Therapy
This is an open-label, single-arm, multicenter clinical study to evaluate the effectiveness and safety of risdiplam administered as an early intervention in pediatric participants with spinal muscular atrophy (SMA) and 2 SMN2…
- Trial name
- HINALEA 1 (NCT05861986)
- Testing
- Risdiplam
- Where
- 16 sites in United States, Germany and 2 more
- Volunteers
- 28 people
- Sponsor
- Hoffmann-La Roche
Spinal Muscular Atrophy
ASsessing The REAl-world Safety & Effectiveness of Spinal Muscular Atrophy Participants Treated With Intrathecal Onasemnogene Abeparvovec-brve (OAV101B) (ITVISMA®): A U.S. Pragmatic Multicenter Study (STREAM)
The primary purpose is to address critical evidence in the treatment landscape for Spinal Muscular Atrophy (SMA), specifically focusing on the intrathecal formulation of onasemnogene abeparvovec-brve (ITVISMA®). U.S.
- Trial name
- NCT07448610
- Testing
- Onasemnogene Abeparvovec-brve
- Where
- 6 sites in United States
- Volunteers
- 36 people
- Sponsor
- Novartis Pharmaceuticals
Spinal Muscular Atrophy (SMA)
SPX-01 Gene Therapy in Pediatric Patients With Spinal Muscular Atrophy Type 1 (RISE)
The goal of this clinical trial is to learn about the safety, and tolerability of giving an experimental gene therapy called SPX-01 to an infant with spinal muscular atrophy (SMA) type 1.
- Trial name
- NCT07903376
- Testing
- SPX-01
- Where
- Iran
- Volunteers
- 1 people
- Sponsor
- Exir Gene Pharmed
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
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
Heart Failure, Muscle Atrophy
Changes in Skeletal Muscle Thickness in Patients With Acute Heart Failure
This study aims to determine, via skeletal muscle ultrasound (US), the extent, timing and relationship between skeletal muscle mass loss and outcomes after orthotropic heart transplantation (OHT) and left ventricular assist…
- Conditions
- Heart Failure, Muscle Atrophy, Skeletal Muscle Atrophy, Cardiogenic Shock
- Trial name
- NCT06253104
- Testing
- BodyMetrix Body Composition Ultrasound
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Tufts Medical Center
Sepsis, Myopathy Critical Illness
Characterization and Longitudinal Monitoring of Muscular Phenotype in Patients Admitted to Intensive Care for Sepsis
Approximately 40% of patients develop muscle dysfunction during their stay in intensive care, particularly in the context of sepsis.
- Trial name
- REAMUS (NCT07074028)
- Testing
- Medical Research Council sum score (MRC-SS) test, Handgrip test combined with surface electromyography (sEMG), Electrical activity during maximal voluntary contraction of the rectus femoris
- Where
- France
- Volunteers
- 63 people
- Sponsor
- Centre Hospitalier de Saint-Brieuc
Spinal Amyotrophy
SMAdult - Monitoring of Movement on Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a rare neuromuscular disease causing progressive muscle weakness related to degeneration of motor neurons.
- Trial name
- SMAdult (NCT07894185)
- Testing
- wearable sensors
- Where
- Belgium
- Volunteers
- 60 people
- Sponsor
- Centre Hospitalier Universitaire de Liege
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 (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 (SMA)
HABIT-ILE + FST in Children With SMA: Preliminary Effectiveness
This single-arm pilot study will assess the preliminary effectiveness of an intensive motor skill intervention (HABIT-ILE) combined with functional strength training (FST) in children with SMA who are receiving disease-modifying…
- Trial name
- NCT07488338
- Testing
- Combined Hand-Arm Bimanual Intensive Therapy Including Lower Extremities (HABIT-ILE) + functional strength training (FST)
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Teachers College, Columbia University
Spinal Muscular Atrophy
A Study of the Safety and Effectiveness of Onasemnogene Abeparvovec (Zolgensma) Intrathecal Injection in Spinal Muscular Atrophy Patients
This study aims to assess the safety and effectiveness of onasemnogene abeparvovec intrathecal injection in spinal muscular atrophy (SMA) patients in clinical practice in Japan.
- Trial name
- NCT07767890
- Where
- 4 sites in Japan
- Volunteers
- 80 people
- Sponsor
- Novartis Pharmaceuticals
Spinal Muscular Atrophy
A Registry of Cases of Spinal Muscular Atrophy
Because no long-term record of prenatal Spinal Muscular Atrophy (SMA) treatment exists, this study will address an important gap in the understanding of the safety and benefit of treatment while in the womb.
- Trial name
- NCT07805278
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- St. Jude Children's Research Hospital
Spinal Muscular Atrophy (SMA)
Service Evaluation for Newborn Screening for Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA) is a disease that causes progressive muscle weakness. There are many types- the most severe and most common, type 1, affects very young babies, and is life-threatening if untreated.
- Trial name
- SENS (NCT07888868)
- Where
- 3 sites in United Kingdom
- Volunteers
- 750,000 people
- Sponsor
- University of Oxford
Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma.
- Conditions
- Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease, Cystic Fibrosis, Fragile X Syndrome
- Trial name
- DANNIgene (NCT06147414)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 550 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Mortality, Muscle Loss
Mortality and Muscle Mass Loss in Critically Ill Patients.
The aim of the study is to monitor changes in muscle mass in critically ill patients and to verify whether a decrease in muscle mass of ≥10% during the first 7 days of hospitalization is associated with increased 28-day…
- Trial name
- MUSIC 2 (NCT07280039)
- Where
- Czechia
- Volunteers
- 386 people
- Sponsor
- Brno University Hospital
Muscular Atrophy, Spinal
A Study to Learn About the Safety and Effects of Salanersen (BIIB115) When Given to Babies With Spinal Muscular Atrophy (SMA) Who Were Previously Treated With Onasemnogene Abeparvovec
In this study, researchers will learn more about the safety and effects of BIIB115, also known as salanersen. Specifically, researchers will learn more about how salanersen works in babies who have already been treated with…
- Trial name
- STELLAR-2 (NCT07444450)
- Testing
- Salanersen
- Where
- United States
- Volunteers
- 42 people
- Sponsor
- Biogen
Spinal Muscular Atrophy
A Real-World Medical Chart Review of Spinal Muscular Atrophy Patients Treated With Onasemnogene Abeparvovec in Saudi Arabia
The aim of this retrospective medical chart review is to describe the clinical outcomes, clinical characteristics, and demographics of patients with spinal muscular atrophy (SMA) type 1 treated with onasemnogene abeparvovec (OA)…
- Trial name
- SMA-REAL (NCT07737756)
- Volunteers
- 6 people
- Sponsor
- Novartis Pharmaceuticals