Clinical trials: SMARD1
Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease
Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
The goal of this study is to establish a genetic registry of patients with early-onset motor neuron and neuromuscular diseases. The investigators will collect samples from patients with a motor neuron or a neuromuscular disorder…
- Conditions
- Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease, Muscular Dystrophy, Spinal Muscular Atrophy With Respiratory Distress 1
- Trial name
- NCT02532244
- Testing
- sample collection
- Where
- 3 sites in United States
- Volunteers
- 230 people, healthy volunteers welcome
- Sponsor
- Nemours Children's Clinic
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