SMN Copy Number Distribution in Mali, West Africa
|ClinicalTrials.gov Identifier: NCT01059240|
Recruitment Status : Completed
First Posted : January 29, 2010
Last Update Posted : June 20, 2018
|First Submitted Date||January 28, 2010|
|First Posted Date||January 29, 2010|
|Last Update Posted Date||June 20, 2018|
|Study Start Date||January 21, 2010|
|Primary Completion Date||Not Provided|
|Current 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|
|Original Primary Outcome Measures||Not Provided|
|Change History||Complete list of historical versions of study NCT01059240 on ClinicalTrials.gov Archive Site|
|Current 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.|
|Original Secondary Outcome Measures||Not Provided|
|Current Other Outcome Measures||Not Provided|
|Original Other Outcome Measures||Not Provided|
|Brief Title||SMN Copy Number Distribution in Mali, West Africa|
|Official Title||SMN Copy Number Distribution in Mali, West Africa|
- To collect blood samples for use in studying genetic data related to spinal muscular atrophy.
-<TAB>Bamako, Mali, West Africa
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.
The study population will include 1400 adult (18 years of age and older) volunteers only.
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 measure for phase 1 is DNA extraction yield of sufficient quantity and quality for SMN genotyping by LabCorp 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.
Abbreviations and Definition of Terms
|Study Design||Time Perspective: Prospective|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Condition||Spinal Muscular Atrophy|
|Study Groups/Cohorts||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Original Estimated Enrollment
|Study Completion Date||May 18, 2017|
|Primary Completion Date||Not Provided|
Medical students at the FMPOS of Malian ancestry and nationality who are 18 years of age and above will be considered for this study.
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.
|Ages||18 Years and older (Adult, Older Adult)|
|Accepts Healthy Volunteers||No|
|Contacts||Contact information is only displayed when the study is recruiting subjects|
|Listed Location Countries||Mali|
|Removed Location Countries|
|Other Study ID Numbers||999910033
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||Not Provided|
|IPD Sharing Statement||Not Provided|
|Responsible Party||National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) )|
|Study Sponsor||National Institute of Neurological Disorders and Stroke (NINDS)|
|PRS Account||National Institutes of Health Clinical Center (CC)|
|Verification Date||May 18, 2017|