Mechanisms of Cell Death in Spinal Muscular Atrophy

Completed

Conditions studied: Spinal Muscular Atrophy

In brief

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.

Key facts

Study ID

NCT01754441

Run by

Nemours Children's Clinic

People needed

25

Starts

2008-05-01

Expected to finish

2020-02-01

Last updated by the study team

2020-02-21

Who can join

Age: any, up to 21. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• Diagnosis of SMA confirmed by neurologist

You may not qualify if…

• Not seen as a patient at a participating Nemours facility

Where it is running

• Alfred I. duPont Hospital for Children — Wilmington, Delaware, United States
• Nemours Children's Specialty Care, Jacksonville — Jacksonville, 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.