Clinical trials: Spinal Muscular Atrophy Type 2
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
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
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
Spinal Muscular Atrophy, Spinal Muscular Atrophy Type 3
Spinal Cord Stimulation for the Treatment of Motor Deficits in People With Spinal Muscular Atrophy - Upper Limb
Spinal cord stimulation (SCS) has shown remarkable efficacy in restoring motor function in people with spinal cord injury by recruiting afferent input to enhance the responsiveness of spared neural circuits to residual cortical…
- Conditions
- Spinal Muscular Atrophy, Spinal Muscular Atrophy Type 3, Spinal Muscular Atrophy Type II, Spinal Muscular Atrophy 4
- Trial name
- NCT06300996
- Testing
- Spinal Cord Stimulator (Octopolar Medtronic Vectris Leads)
- Where
- United States
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- Marco Capogrosso
Spinal Muscular Atrophy
A Pilot Study of Biomarkers for Spinal Muscular Atrophy
The goal of this pilot study is to identify a marker or panel of markers in the blood or urine from a wide range of Spinal Muscular Atrophy (SMA) patients that segregates with measures of clinical severity.
- Trial name
- BforSMA (NCT00756821)
- Where
- 18 sites in United States, Canada
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- Carelon Research
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
Spinal Muscular Atrophy
Characterization of the Clinical-epidemiological Profile of Patients With SMA5q Types II and III: Observational Study
This study aims to characterize the clinical-epidemiological profile and baseline characteristics of patients with spinal muscular atrophy (SMA) 5q types II and III in follow-up at the Brazilian Unified Public Health System…
- Trial name
- NCT04404764
- Testing
- Nusinersen Injectable Product
- Where
- 9 sites in Brazil
- Volunteers
- 155 people, healthy volunteers welcome
- Sponsor
- Hospital Israelita Albert Einstein
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
Distal Hereditary Motor Neuropathy, Type II, Distal Hereditary Motor Neuropathy, Type V
Muscle Structure, Function and Gait in dHMN
Distal Hereditary Motor Neuropathy (dHMN) is a rare inherited neuromuscular disorder. It is characterised by distal weakness. The condition usually manifests in the second decade of life and progresses slowly.
- Conditions
- Distal Hereditary Motor Neuropathy, Type II, Distal Hereditary Motor Neuropathy, Type V, Distal Hereditary Motor Neuronopathy Type I, Distal Hereditary Motor Neuronopathy Type VI
- Trial name
- GAIT-dHMN (NCT04193228)
- Testing
- Carbon Fibre Ankle Foot Orthosis, Exercise
- Where
- United Kingdom
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- University College London Hospitals