Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases

Completed

Conditions studied: Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease, Muscular Dystrophy, Spinal Muscular Atrophy With Respiratory Distress 1, Amyotrophic Lateral Sclerosis, Motor Neuron Disease, Neuromuscular Disease, Peroneal Muscular Atrophy

In brief

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 and their family members. The samples to be collected will be obtained using minimally invasive (whole blood) means. The research team will then extract high quality genomic DNA or RNA from these samples and use it to identify and confirm novel gene mutations and to identify genes which regulate the severity of motor neuron/neuromuscular diseases.

Key facts

Study ID

NCT02532244

Run by

Nemours Children's Clinic

People needed

230

Starts

2015-06-01

Expected to finish

2024-12-18

Last updated by the study team

2024-12-19

Who can join

Age: 0 and older. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• Diagnosis of motor neuron/neuromuscular disease confirmed by neurologist
• Be seen by one of the study investigators

You may not qualify if…

• not seen by one of the study investigators

Where it is running

• Nemours Children's Hospital Delaware — Wilmington, Delaware, United States
• Nemours Children's Specialty Care — Jacksonville, Florida, United States
• Nemours Children's Hospital Orlando — Orlando, Florida, United States

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.