SMN Copy Number Distribution in Mali, West Africa

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT01059240
First received: January 28, 2010
Last updated: July 29, 2014
Last verified: July 2014
  Purpose

Background:

  • 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.

Objectives:

- To collect blood samples for use in studying genetic data related to spinal muscular atrophy.

Eligibility:

  • Healthy volunteers who are at least 18 years of age.
  • Volunteers will be of Malian ancestry and nationality.

Study Location:

-< TAB> Bamako, Mali, West Africa

Design:

  • 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.

Condition
Spinal Muscular Atrophy

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: SMN Copy Number Distribution in Mali, West Africa

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • Primary outcome measure for phase 1 is DNA extraction yield of sufficient quantity and quality for SMN genotyping in at least 90% of samples

Secondary Outcome Measures:
  • Secondary outcome measures for phase 2 are the frequency of SMA carriers (SMN1 deletion heterozygotes) and the SMN1 and SMN2 copy number distribution in Mali.

Estimated Enrollment: 1400
Study Start Date: January 2010
Detailed Description:

Objective

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease that is caused by mutations in the survival motor neuron gene, SMN1. The objective of this study is to determine the SMN copy number distribution in the Malian population and to compare this to published data obtained elsewhere. It is anticipated that this study will help to refine the knowledge of SMA by assessing the distribution of SMN copy number, and the SMA carrier frequency in a sub-Saharan nation, thus expanding the information base available to clinicians and patients considering SMA carrier testing.

Study Population

The study population will include 1400 adult (18 years of age and older) volunteers only.

Design

Blood samples from volunteers will be collected from students at the School of Medicine, Pharmacy, and Dentistry (FMPOS) at the University of Bamako, which consists of an ethnically diverse population representative of the Malian ethnicities. No therapy will be provided to study participants.

Outcome Measures

Outcome measure for phase 1 is DNA extraction yield of sufficient quantity and quality for SMN genotyping by Genzyme in at least 90% of samples. Outcome measures for phase 2 are the frequency of SMA carriers (SMN1 deletion heterozygotes) and the SMN1 and SMN2 copy number distribution in Mali.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

Medical students at the FMPOS of Malian ancestry and nationality who are 18 years of age and above will be considered for this study.

EXCLUSION CRITERIA:

Subjects may not be eligible to participate if they have a condition that would make a single 6 ml blood draw unsafe. Student assistants are ineligible for the study participation.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01059240

Locations
Mali
University of Bamako, Faculty of Medicine, Pharmacy and Dentistry (FMPOS)
Bamako, Mali
Sponsors and Collaborators
Investigators
Principal Investigator: Kenneth H Fischbeck, M.D. National Institute of Neurological Disorders and Stroke (NINDS)
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT01059240     History of Changes
Other Study ID Numbers: 999910033, 10-N-N033
Study First Received: January 28, 2010
Last Updated: July 29, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Survival Motor Neuron 1 (SMN1)
Survival Motor Neuron 2 (SMN2)
Spinal Muscular Atrophy (SMA)
SMN Copy Number in Mali
Spinal Muscular Antrophy
SMA

Additional relevant MeSH terms:
Muscular Atrophy
Muscular Atrophy, Spinal
Atrophy
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Pathological Conditions, Anatomical
Signs and Symptoms
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases

ClinicalTrials.gov processed this record on August 21, 2014