Spinal Muscular AtrophyNCT01059240
SMN Copy Number Distribution in Mali, West Africa
An observational study of Spinal Muscular Atrophy, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in Mali.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Spinal Muscular Atrophy
- How many people
- 701 participants
- Where
- 1 siteMali
- Study dates
- 21 Jan 2010to 18 May 2017
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Medical students at the FMPOS of Malian ancestry and nationality who are 18 years of age and above will be considered for this study.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
Mali1 site
University of Bamako, Faculty of Medicine, Pharmacy and Dentistry (FMPOS)
Bamako
About this study
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.
Read more
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.
Read the 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
- 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
- Medical subject headings
- Muscular Atrophy, Spinal
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jan 2010 (estimated)
- Study start21 Jan 2010
- Study completion18 May 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by National Institute of Neurological Disorders and Stroke (NINDS)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Time perspective
- Prospective
- Enrolment
- 701 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Kenneth H Fischbeck, M.D., Principal investigator, National Institute of Neurological Disorders and Stroke (NINDS)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01059240
- Sponsor's protocol ID
- 999910033
- Other IDs
- 10-N-N033
- Status last verified
- 18 May 2017
- First submitted
- 28 Jan 2010
- Last updated
- 5 Dec 2019
- Results posted
- No
Publications
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.
PubMed 9207792Smith 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.
PubMed 17392705Wirth 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.
PubMed 9345102
Study at a glance
From the registry record, last updated by the sponsor on 5 Dec 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- SMN Copy Number Distribution in Mali, West Africa
- ClinicalTrials.gov ID
- NCT01059240
- Acronym / sponsor ID
- 999910033
- 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
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 701 participants (actual)
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)US National Institutes of Health
- Study start
- 21 Jan 2010
- Study completion
- 18 May 2017
- First posted
- 29 Jan 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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
Study design
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (1 listed)
- Medical students at the FMPOS of Malian ancestry and nationality who are 18 years of age and above will be considered for this study.
Key exclusion criteria (1 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Primary outcome measure for phase 1 is DNA extraction yield of sufficient quantity and quality for SMN genotyping in at least 90% of samples
1 secondary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Dec 2019.
- Background: PubMed 9207792Lefebvre 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.
- Background: PubMed 17392705Smith 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.
- Background: PubMed 9345102Wirth 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Kenneth H Fischbeck, M.D. principal investigator
National Institute of Neurological Disorders and Stroke (NINDS)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in Mali.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 5 Dec 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Mali. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Primary outcome measure for phase 1 is DNA extraction yield of sufficient quantity and quality for SMN genotyping in at least 90% of samples. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01059240, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Dec 2019.