- Spinal muscular atrophy (SMA) is a degenerative and incurable neuromuscular disorder
that is caused by mutations in the survival motor neuron gene, SMN1, found on chromosome
5. It is the leading inherited cause of infant mortality. SMA carriers (those who have
the genetic mutation but do not have the disease) are often unaware of their status
until they are tested.
- Researchers have been studying the prevalence of SMA carriers in the general population,
but most of the information collected has come from populations within the United
States, Europe, and Asia. Very few studies have been performed in Africa. Furthermore,
this information does not provide much information regarding carrier frequency based on
ethnic background and ancestry. To address this problem, researchers are interested in
studying the prevalence of the SMA genetic mutation in the sub-Saharan nation of Mali.
- To collect blood samples for use in studying genetic data related to spinal muscular
- Healthy volunteers who are at least 18 years of age.
- Volunteers will be of Malian ancestry and nationality.
-<TAB>Bamako, Mali, West Africa
- The study will first collect blood samples from a small group of volunteers to run
initial SMA carrier testing and resolve any technical difficulties before continuing
with the study.
- Participants will complete questionnaires about their personal and family medical
history, including questions about illnesses, stillborns, and miscarriages, and then
will provide blood samples for genetic research and testing.