Clinical trials: Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA)
Clinical Trial to Assess the Safety and Efficacy of EXG001-307 in Patients With Spinal Muscular Atrophy
The purpose of this trial is to evaluate safety and efficacy of intrathecal delivery of EXG001-307 as a treatment of spinal muscular atrophy .
- Trial name
- NCT06888661
- Testing
- EXG001-307 injection
- Where
- 2 sites in China
- Volunteers
- 4 people
- Sponsor
- Guangzhou Jiayin Biotech Ltd
Spinal Muscular Atrophy
Responsiveness and Validation Study of MFM-20 in SMA Patients Treated With Nusinersen
The Motor Function Measure (MFM), a reliable tool assessing motor function and its progression in most neuromuscular diseases, is widely used in France in many teams.
- Trial name
- RetroNusiMFM (NCT04644393)
- Where
- 8 sites in France
- Volunteers
- 40 people
- Sponsor
- Hospices Civils de Lyon
Muscle Weakness, Problems Moving Their Arms and Legs
Toward Ubiquitous Lower Limb Exoskeleton Use in Children and Young Adults
People with cerebral palsy (CP), muscular dystrophy (MD), spina bifida, or spinal cord injury often have muscle weakness, and problems moving their arms and legs.
- Trial name
- NCT06998134
- Testing
- Extension assist knee ankle foot orthosis (EA-KAFO)
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- National Institutes of Health Clinical Center (CC)
Spinal Muscular Atrophy
Pre-Symptomatic Study of Intravenous Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy (SMA) for Patients With Multiple Copies of SMN2
To evaluate the safety and efficacy of intravenous onasemnogene abeparvovec-xioi in pre-symptomatic patients with SMA and 2 or 3 copies SMN2
- Trial name
- SPR1NT (NCT03505099)
- Testing
- onasemnogene abeparvovec-xioi
- Where
- 16 sites in United States, Australia and 4 more
- Volunteers
- 30 people
- Sponsor
- Novartis Gene Therapies
Lumbar Disc Herniation, Lumbar Degenerative Disease
Multivariate Analysis and Risk Factors Were Used to Predict the Short-term Postoperative Pain of Degenerative Lumbar Spine
The objective of this retrospective clinical study wasto study the risk factors for short-term low back and leg pain after PLIF in patients with lumbar Degenerative disease, and to establish a risk prediction model for short-term…
- Conditions
- Lumbar Disc Herniation, Lumbar Degenerative Disease, Sarcopenia
- Trial name
- NCT06628583
- Testing
- Magnetic Resonance Imaging with Contrast
- Where
- China
- Volunteers
- 936 people, healthy volunteers welcome
- Sponsor
- Hao Liu
Tremor, Involuntary Movements
Hyperkinetic Movements in Patients With Disease of Motor Neurons and Their Response to Treatment With Nusinersen
Hyperkinetic movement disorders in patients with diseases of motor neurons will be studied. Patients with spinal muscular atrophy (SMA) and motor neuron disease patients will be studied.
- Conditions
- Tremor, Involuntary Movements, SMA, MND (Motor Neurone DIsease)
- Trial name
- NCT04825119
- Testing
- Nusinersen
- Where
- Slovenia
- Volunteers
- 110 people
- Sponsor
- University Medical Centre Ljubljana
Spinal Muscular Atrophy Type I
Study of Safety, Tolerability and Efficacy of GB221 in Infants With Spinal Muscular Atrophy Type 1
GB221 is a gene therapy that delivers a working SMN1 gene to the motor neurons of people with spinal muscular atrophy (SMA) Type 1. This study will evaluate the safety, tolerability and efficacy of GB221 in two groups: 1.
- Trial name
- NCT07070999
- Testing
- GB221
- Where
- Brazil
- Volunteers
- 22 people
- Sponsor
- Gemma Biotherapeutics
Spinal Muscular Atrophy Type 3
Whole Body Vibration Therapy in Children With Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) are one of the common physical disabilities in childhood. For SMA, progressive muscle weakness and early fatigue hamper the mobility of the sufferers.
- Trial name
- NCT03056144
- Testing
- whole body vibration therapy
- Where
- Hong Kong
- Volunteers
- 1 people
- Sponsor
- The Hong Kong Polytechnic University
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
Spinal Muscular Atrophy
Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy
In this single-center trial, we will evaluate the effects of NaPB on presymptomatic Spinal Muscular Atrophy (SMA) type I (cohort 1)and presymptomatic SMA type II (cohort 2) infants.
- Trial name
- STOPSMA (NCT00528268)
- Testing
- Sodium phenylbutyrate
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- University of Utah
Spinal Muscular Atrophy
Long-term Follow-up Study of Risdiplam in Participants With Spinal Muscular Atrophy (SMA)
A multi-center, longitudinal, prospective, non-comparative study to investigate the long-term safety and effectiveness of risdiplam, prescribed based on clinician judgment as per the Evrysdi® U.S.
- Trial name
- WeSMA (NCT05232929)
- Testing
- Risdiplam
- Where
- 38 sites in United States, Puerto Rico
- Volunteers
- 403 people
- Sponsor
- Genentech, Inc.
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
Infantile Spinal Muscular Atrophy
Trial Evaluating the Interest of Noninvasive Ventilation in NAVA Mode in Respiratory Decompensations Children With Infantile Spinal Muscular Atrophy Type II
The new NAVA® ventilatory mode with the SERVO-i ventilator (Maquet®) uses the electrical activity of the diaphragm (EADi) as a marker for triggering the respiratory cycle.
- Trial name
- NAVASI (NCT03395795)
- Testing
- NAVA
- Where
- France
- Volunteers
- 1 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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 Dystrophies, Spinal Muscular Atrophy
Schulze Muscular Dystrophy Ability Clinical Study
The primary objective of the Schulze study is to evaluate the function of the upper limbs of subjects diagnosed with neuromuscular disorders, with and without use of the Abilitech Assist device in the clinic and home…
- Conditions
- Muscular Dystrophies, Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, Limb Girdle Muscular Dystrophy
- Trial name
- NCT05409079
- Testing
- Abilitech Assist
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- AbiliTech Medical Inc.
Type 2 Spinal Muscular Atrophy
Efficacy and Safety of Intrathecal OAV101 (AVXS-101) in Pediatric Patients With Type 2 Spinal Muscular Atrophy (SMA)
This was a Phase III multi-center, single dose (1.2 x 10^14 vector genomes), randomized, sham controlled, double-blind study that investigates the efficacy, safety and tolerability of OAV101B in treatment naive, sitting and never…
- Trial name
- STEER (NCT05089656)
- Testing
- OAV101
- Where
- 42 sites in United States, Brazil and 11 more
- Volunteers
- 126 people
- Sponsor
- Novartis Pharmaceuticals
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, SMA
SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4
A trial investigating the effects of pyridostigmine (mestinon) versus a placebo in a double-blind cross over trial in patients with hereditary proximal spinal muscular atrophy (SMA) types 2, 3 and 4.
- Conditions
- Spinal Muscular Atrophy, SMA, Kugelberg-Welander Disease
- Trial name
- SPACE (NCT02941328)
- Testing
- Pyridostigmine
- Where
- Netherlands
- Volunteers
- 39 people
- Sponsor
- UMC Utrecht
Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia
Phenotype, Genotype and Biomarkers 2
The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic…
- Conditions
- Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, Progressive Muscular Atrophy
- Trial name
- PGB2 (NCT04875416)
- Where
- 4 sites in United States, South Africa
- Volunteers
- 217 people, healthy volunteers welcome
- Sponsor
- University of Miami
Duchenne Muscular Dystrophy, Lower Urinary Tract Symptoms
Examination of Lower Urinary System Symptoms With Duchenne Muscular Dystrophy
The aim of this study is to examine the prevalence of lower urinary tract symptoms (LUTS) in children with Duchenne Muscular Dystrophy (DMD) and the relationship between functional level, posture, muscle strength, pelvic floor…
- Conditions
- Duchenne Muscular Dystrophy, Lower Urinary Tract Symptoms, Muscle Weakness, Posture Disorders in Children
- Trial name
- NCT05464446
- Testing
- Baseline Bubble Inclinometer, Baseline Digital İnclinometer and Hoggan microFET2 devices
- Where
- Turkey (Türkiye)
- Volunteers
- 45 people
- Sponsor
- Lokman Hekim University