Clinical trials: Progressive Muscular Atrophy
Muscular Diseases, Spinal Muscular Atrophy
Evaluation of Therapeutic Response in Spinal Muscular Atrophy Using Multispectral Optoacoustic Tomography (MSOT) and Magnetic Resonance Imaging (MRI)
This study aims to refine the capability of Multispectral Optoacoustic Tomography (MSOT) and Magnet Resonance Imaging (MRI) to characterise the molecular composition of muscle tissue non-invasively and to evaluate the therapeutic…
- Trial name
- NCT04262570
- Testing
- Multispectral Optoacoustic Tomography (MSOT) and Magnetic Resonance Imaging (MRI)
- Where
- Germany
- Volunteers
- 10 people
- Sponsor
- University of Erlangen-Nürnberg Medical School
Spinal Muscular Atrophy
A Study to Assess the Safety and Tolerability of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA).
The primary objective of Part 1 of this study is to assess the safety and tolerability of Nusinersen in participants with SMA who are not eligible to participate in the clinical studies ISIS 396443-CS3B (NCT02193074) or ISIS…
- Trial name
- EMBRACE (NCT02462759)
- Testing
- Nusinersen
- Where
- 7 sites in United States, Germany
- Volunteers
- 21 people
- Sponsor
- Biogen
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
Eye Diseases Hereditary, Retinal Disease
Inherited Retinal Degenerative Disease Registry
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation.
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome
- Trial name
- MRTR (NCT02435940)
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Foundation Fighting Blindness
Spinal Muscular Atrophy
Antisense Oligonucleotide for Spinal Muscular Atrophy
This is a longitudinal, multiple-center, observational study of patients genetically confirmed chromosome 5q SMA to monitor the efficacy, safety, tolerability of SPINRAZA® (nusinersen) for up to 24 months.
- Trial name
- NCT05187260
- Testing
- Nusinersen
- Where
- 3 sites in China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- First Affiliated Hospital of Fujian Medical University
Spinal Muscular Atrophy (SMA)
VRehab-SMA Phase 1.2
Spinal muscular atrophy is a genetic disorder characterized by progressive muscle weakness, severely impacting patients' motor abilities.
- Trial name
- NCT07578454
- Testing
- VRehab SMA device
- Where
- United Kingdom
- Volunteers
- 12 people
- Sponsor
- University of Oxford
Spinal Muscular Atrophy
Spinal Muscular Atrophy and School Transitions
A qualitative questionnaire-based study to explore the experiences of children and young people with Spinal Muscular Atrophy (SMA) and their families regarding school transition and educational participation.
- Trial name
- NCT07720518
- Where
- United Kingdom
- Volunteers
- 20 people
- Sponsor
- Robert Jones and Agnes Hunt Orthopaedic and District NHS Trust
Spinal Muscular Atrophy Type I
Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Type I
The purpose of this study is to identify the maximum tolerated dosage of sodium phenylbutyrate in children with spinal muscular atrophy type I; and to determine if the drug has an effect on SMN mRNA and protein levels.
- Trial name
- NPTUNE 02 (NCT00439218)
- Testing
- sodium phenylbutyrate
- Where
- 5 sites in United States
- Volunteers
- 5 people
- Sponsor
- Westat
Spinal Muscular Atrophy
Risdiplam in Patients With Spinal Muscular Atrophy Previously Treated With Nusinersen
Risdiplam Exchange (RISE) is a study of spinal muscular atrophy (SMA) patients who crossover to 36 months of open-label risdiplam monotherapy following a comparable period of nusinersen treatment.
- Trial name
- RISE (NCT05522361)
- Testing
- Risdiplam
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Clinic for Special Children
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
Spinal Muscular Atrophy, Quality of Life
Reliability and Validity of the Turkish Version of the PedsQL 3.0 Neuromuscular Module for 2-to 4- Year-old
The aim of the investigator's study was to investigate translating the PedsQL 3.0 Neuromuscular Module for 2-to 4- Year-old and using it in clinics reliably and validity with a Turkish version of the PedsQL Generic Core…
- Conditions
- Spinal Muscular Atrophy, Quality of Life, Neuromuscular Diseases, Pediatric Disorder
- Trial name
- NCT05539456
- Where
- Turkey (Türkiye)
- Volunteers
- 55 people
- Sponsor
- Istanbul Medipol University Hospital
Spinal Muscular Atrophy
Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy
This is a multi-center trial to assess safety and efficacy of a combined regimen of oral valproic acid (VPA) and carnitine in patients with Spinal Muscular Atrophy (SMA) 2 to 17 years of age.
- Trial name
- NCT00227266
- Testing
- Valproic Acid and Levocarnitine
- Where
- 6 sites in United States, Canada
- Volunteers
- 94 people
- Sponsor
- University of Utah
Muscular Diseases, Spinal Muscular Atrophy
New Imaging Biomarkers for Muscular Diseases - Multispectral Optoacoustic Imaging in Spinal Muscular Atrophy
This study aims to refine the capability of MSOT to characterise muscle tissue and to determine non-invasive, quantitative biomarkers for the disease assessment in patients with spinal muscular atrophy (SMA) using Multispectral…
- Trial name
- MSOT_SMA (NCT04115475)
- Testing
- Multispectral Optoacoustic Tomography (MSOT)
- Where
- Germany
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Erlangen-Nürnberg Medical School
Infantile Spinal Muscular Atrophy
Test of Aquatic Mobility of SMA Infants
Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease impacting spinal cord motor neurons, leading to motor and respiratory issues and, ultimately, death.
- Trial name
- BAINSMA (NCT06152302)
- Testing
- Mobility study in dry conditions, Mobility study in water conditions
- Where
- France
- Volunteers
- 15 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Muscular Dystrophy, Arthrogryposis
WREX Outcome Study
This study is to evaluate how the Wilmington Robotic Exoskeleton (WREX) is working for children who are using the WREX, or have used it in the past.
- Conditions
- Muscular Dystrophy, Arthrogryposis, Spinal Muscular Atrophy
- Trial name
- NCT02218593
- Testing
- WREX orthosis
- Volunteers
- 25 people
- Sponsor
- Nemours Children's Clinic
Spinal Muscular Atrophy
Mechanisms and Treatment of Exercise Intolerance and Persistent Fatigue in Spinal Muscular Atrophy
This study will focus on the pathophysiological underpinnings of reduced exercise capacity and fatigue in ambulatory patients with spinal muscular atrophy (SMA).
- Trial name
- NCT05518773
- Testing
- Observational
- Where
- United States
- Volunteers
- 34 people
- Sponsor
- Columbia University
Spinal Muscular Atrophy
A Study of Multiple Doses of Nusinersen (ISIS 396443) Delivered to Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy
The primary objective of the study is to examine the efficacy of multiple doses of Nusinersen administered intrathecally in preventing or delaying the need for respiratory intervention or death in infants with genetically…
- Trial name
- NURTURE (NCT02386553)
- Testing
- Nusinersen
- Where
- 21 sites in United States, Australia and 5 more
- Volunteers
- 25 people
- Sponsor
- Biogen
Spinal Muscular Atrophy
Pulmonary Function Test Changes and Respiratory Muscle Strength Trends in Spinal Muscular Atrophy Patients Receiving Nusinersen Treatments
It is well known that patients with spinal muscular atrophy (SMA) have progressive decline of respiratory muscle function. Therapy traditionally involved supportive means to ensure optimal nutrition and airway clearance.
- Trial name
- NCT04050852
- Testing
- Nusinersen Treatments
- Where
- United States
- Sponsor
- NYU Langone Health
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
Recruitment
Chinese Regional Spinal Muscular Atrophy Patient Registration Study
The primary objectives of this study are to obtain clinically meaningful data on the survival, outcomes, prognosis and treatment effect of all the patients with spinal muscular atrophy (SMA) 5q types 1 to 3 (according to…
- Trial name
- NCT05631418
- Where
- China
- Sponsor
- The Children's Hospital of Zhejiang University School of Medicine