Ignite Creation Date:
2024-05-05 @ 10:12 PM
Last Modification Date:
2024-10-26 @ 10:15 AM
Study NCT ID:
NCT01059240
Status:
COMPLETED
Last Update Posted:
2019-12-05
First Post:
2010-01-28
Brief Title:
SMN Copy Number Distribution in Mali West Africa
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
SMN Copy Number Distribution in Mali West Africa
Status:
COMPLETED
Status Verified Date:
2017-05-18
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
-TABBamako 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
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
-TABBamako 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
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 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
SMA Spinal Muscular Atrophy
SMN Survival Motor Neuron
SMN1 Survival Motor Neuron Telomeric
SMN2 Survival Motor Neuron Centromeric
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 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
SMA Spinal Muscular Atrophy
SMN Survival Motor Neuron
SMN1 Survival Motor Neuron Telomeric
SMN2 Survival Motor Neuron Centromeric
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 10-N-N033 | None | None | None |