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Mechanisms of Cell Death in Spinal Muscular Atrophy

NCT01754441 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 25

Last updated 2020-02-21

No results posted yet for this study

Summary

Spinal muscular atrophy is a genetically based disease that affects motor neurons in the spinal cord and leads to muscle wasting and weakness. The gene found to be responsible for the underlying disease is called the SMN or survival motor neuron gene. Individuals with SMA are either missing a copy of the gene or have a mutation in the gene. Although the gene has been identified, how it actually causes the motor neurons to die and leads to muscle wasting and weakness is not completely understood. The investigators have found that skin cells from children with SMA tend to be more susceptible to cell death when exposed to cell death inducing agents. In this protocol, The investigators wish to study the mechanisms by which these cells die when exposed to these agents and how this may be related to the gene defect and the disease.

Conditions

Sponsors & Collaborators

  • Nemours Children's Clinic

    lead OTHER

Principal Investigators

  • Matthew ER Butchbach, Ph.D. · Nemours Biomedical Research

Eligibility

Max Age
21 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2008-05-31
Primary Completion
2020-02-29
Completion
2020-02-29

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 NCT01754441 on ClinicalTrials.gov