SMN Copy Number Distribution in Mali, West Africa

NCT01059240 | Completed

• 2 other identifiers: 99991003310-N-N033
• Study Type: observational
• Target: 701
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Spinal Muscular Atrophy

Keywords

Survival Motor Neuron 1 (SMN1); Survival Motor Neuron 2 (SMN2); Spinal Muscular Atrophy (SMA); SMN Copy Number in Mali; Spinal Muscular Antrophy; SMA

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• 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.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead

Study Sites (1)

University of Bamako, Faculty of Medicine, Pharmacy and Dentistry (FMPOS)

Bamako, Mali

Location

Related Publications (3)

• Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, Munnich A, Dreyfuss G, Melki J. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet. 1997 Jul;16(3):265-9. doi: 10.1038/ng0797-265.

  PMID: 9207792 BACKGROUND

• Smith M, Calabro V, Chong B, Gardiner N, Cowie S, du Sart D. Population screening and cascade testing for carriers of SMA. Eur J Hum Genet. 2007 Jul;15(7):759-66. doi: 10.1038/sj.ejhg.5201821. Epub 2007 Mar 28.

  PMID: 17392705 BACKGROUND

• Wirth B, Schmidt T, Hahnen E, Rudnik-Schoneborn S, Krawczak M, Muller-Myhsok B, Schonling J, Zerres K. De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet. 1997 Nov;61(5):1102-11. doi: 10.1086/301608.

  PMID: 9345102 BACKGROUND

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Officials

• Kenneth H Fischbeck, M.D.

  National Institute of Neurological Disorders and Stroke (NINDS)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 28, 2010
• First Posted: January 29, 2010
• Study Start: January 21, 2010
• Study Completion: May 18, 2017
• Last Updated: December 5, 2019

Record last verified: 2017-05-18

Locations

MA (1)