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Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases

NCT02532244 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 230

Last updated 2024-12-19

No results posted yet for this study

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.

Conditions

Interventions

OTHER

sample collection

collection of blood

Sponsors & Collaborators

  • Nemours Children's Clinic

    lead OTHER

Principal Investigators

  • Matthew ER Butchbach, Ph.D. · Nemours Children's Clinic

Eligibility

Min Age
1 Month
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2015-06-30
Primary Completion
2024-12-18
Completion
2024-12-18

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02532244 on ClinicalTrials.gov