Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases

Study Identifier:
764456
ClinicalTrials.gov Identifier:
EudraCT Identifier:
N/A
EU CT Number:
N/A
Sponsor:
Nemours Children's Clinic
Study Complete

Study Details

Medical Condition
  • All Spinal Muscular Atrophies
Study Drug
    Date
    Jun 2015 - Dec 2024
    Patient Requirements
    Sex: Female & Male
    Age: 1+ years
    Requirements Information

    Protocol Summary

    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.

    Trial Locations

    Location
    Status
    Location
    Nemours Children's Hospital Delaware
    Wilmington, Delaware, United States, 19803
    Status
    N/A
    Location
    Nemours Children's Specialty Care
    Jacksonville, Florida, United States, 32207
    Status
    N/A
    Location
    Nemours Children's Hospital Orlando
    Orlando, Florida, United States, 32827
    Status
    N/A

    Contact Cure SMA

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