Spinal Muscular AtrophyNCT01547871
Infants With Spinal Muscular Atrophy Type I
An observational study of Spinal Muscular Atrophy, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
Trial summary
Background: Spinal muscular atrophy type 1 (SMA 1) causes severe muscle weakness and problems with eating and breathing. The symptoms begin in infancy, and children affected with SMA 1 often die in early childhood. Researchers want to collect information on how SMA symptoms progress in first two years. Read more about this study
- Who is it for?
- Ages 1 year to 6 years
- Conditions the study is for
- Spinal Muscular Atrophy
- How many people
- 4 participants
- Where
- 1 siteUnited States
- Study dates
- 7 Feb 2012to 14 Apr 2016
- 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 1 year to 6 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Diagnosis of SMA 1 in infancy (i.e. less than 2 years of age)
- Symptoms of motor weakness and hypotonia, as documented by a clinician with onset before age 6 months
- Inability to sit without support at age 8 months
- Genetic testing consistent with mutation or deletion of the SMN 1 gene on chromosome 5q
- Born on or after January 1, 2007
- At least one parent is able to provide written informed consent
- Born and living in United States of America
Who cannot join
- 1. Anticipated excessive emotional distress to the parents or caregivers from research procedures, based on physician and parent evaluation.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institute of Neurological Disorders and Stroke (NINDS), 9000 Rockville
Bethesda, Maryland, 20892
About this study
Official title: A Pilot Study of the Natural History of Infants With Spinal Muscular Atrophy (SMA) Type 1
Background:
- Spinal muscular atrophy type 1 (SMA 1) causes severe muscle weakness and problems with eating and breathing. The symptoms begin in infancy, and children affected with SMA 1 often die in early childhood. Researchers want to collect information on how SMA symptoms progress in first two years.
Read more
Objectives:
- To study how the symptoms of SMA 1 progress in infants and children.
Eligibility:
- Infants and children with SMA 1 born on or after January 1, 2007.
Design:
- Researchers will review the child s medical records and talk with parents by telephone.
- For children who are under 2 years of age, the researchers will review the child s medical records and speak with you on telephone every 2-4 months. Phone calls with parents will take about 10 minutes and will involve questions about symptoms of SMA 1. Children will be followed until age 2.- Researchers are also interested in looking at medical records of children who are no longer alive or who are more than 2 years of age.
Parents or children do not have to come to the NIH. They will provide consent to view these records, and information over the telephone.
- No treatment or care will be provided as part of this study.
Read the detailed description
Objective:
To conduct a pilot, observational, retrospective and prospective, natural history study of infants affected with spinal muscular atrophy type 1 (SMA 1). The goal is to assess the feasibility of the study design in order to plan a larger study aimed at understanding the changing natural history and obtain current data on survival of patients affected with SMA 1. This information is important for designing clinical trials.
Study Population:
Up to 50 children born on or after January 1, 2007 with a clinical diagnosis of SMA 1 and genetic testing consistent with a homozygous mutation of the SMN 1 gene on chromosome 5q13 will be enrolled in the study.
Design:
This is a longitudinal pilot study to demonstrate study design feasibility and test outcome measures to assess the natural history of infants affected with SMA 1. Pertinent clinical and demographic data will be collected. The data collection will be retrospective for deceased infants and children who are alive but over age of 2 years at the time of enrollment. A combination of retrospective and prospective data will be collected for infants who are alive and less than 2 years of age at the time of enrollment. The data will be collected remotely from the National Institutes of Health (NIH) by medical chart reviews and/or telephone questionnaire obtained from the parent of the infant with SMA 1. Infants alive at enrollment will be followed prospectively until age 2 years or death, whichever occurs first.
Outcome Measures:
The primary outcome of this pilot study is to demonstrate the feasibility of the study design and outcome measures in patients with SMA 1.
Secondary outcomes include evaluation for time of events, i.e., time of ventilator support for >=16 hours a day continuously for more than 2 weeks and time of death.
Additional demographic and clinical data pertinent to respiratory and nutritional aspects will be collected to assess possible factors influencing the outcome measures.
- Conditions
- Spinal Muscular Atrophy
- Keywords
- Natural History Study, Spinal Muscular Atrophy (SMA), Natural History
- Medical subject headings
- Muscular Atrophy, Spinal
What is being measured
The primary outcome is the main question the study is designed to answer.
The primary outcome of this pilot study is to demonstrate the feasibility of the study design and test the outcome measures in patients with SMA 1.
Secondary outcomes (1)
Secondary outcomes include evaluation for time of events, i.e., time of ventilator support for greater than or equal to 16 hours a day continuously for more than 2 weeks and time of death.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Mar 2012 (estimated)
- Study start7 Feb 2012
- Study completion14 Apr 2016
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
- Other
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Minal J Bhanushali, M.D., Principal investigator, National Institute of Neurological Disorders and Stroke (NINDS)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01547871
- Sponsor's protocol ID
- 999912067
- Other IDs
- 12-N-N067
- Status last verified
- 14 Apr 2016
- First submitted
- 6 Mar 2012
- Last updated
- 12 Dec 2019
- Results posted
- No
Publications
Chung BH, Wong VC, Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics. 2004 Nov;114(5):e548-53. doi: 10.1542/peds.2004-0668. Epub 2004 Oct 18.
PubMed 15492357Oskoui M, Levy G, Garland CJ, Gray JM, O'Hagen J, De Vivo DC, Kaufmann P. The changing natural history of spinal muscular atrophy type 1. Neurology. 2007 Nov 13;69(20):1931-6. doi: 10.1212/01.wnl.0000290830.40544.b9.
PubMed 17998484Swoboda KJ, Prior TW, Scott CB, McNaught TP, Wride MC, Reyna SP, Bromberg MB. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol. 2005 May;57(5):704-12. doi: 10.1002/ana.20473.
PubMed 15852397
Study at a glance
From the registry record, last updated by the sponsor on 12 Dec 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Pilot Study of the Natural History of Infants With Spinal Muscular Atrophy (SMA) Type 1
- ClinicalTrials.gov ID
- NCT01547871
- Acronym / sponsor ID
- 999912067
- Conditions
- Spinal Muscular Atrophy
- Keywords
- Natural History Study, Spinal Muscular Atrophy (SMA), Natural History
- Study type
- Observational
- Recruitment status
- Terminated
- Enrolment
- 4 participants (actual)
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)US National Institutes of Health
- Study start
- 7 Feb 2012
- Study completion
- 14 Apr 2016
- First posted
- 8 Mar 2012 (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 type 1 (SMA 1) causes severe muscle weakness and problems with eating and breathing. The symptoms begin in infancy, and children affected with SMA 1 often die in early childhood. Researchers want to collect information on how SMA symptoms progress in first two years.
Objectives:
- To study how the symptoms of SMA 1 progress in infants and children.
Eligibility:
- Infants and children with SMA 1 born on or after January 1, 2007.
Design:
- Researchers will review the child s medical records and talk with parents by telephone.
- For children who are under 2 years of age, the researchers will review the child s medical records and speak with you on telephone every 2-4 months. Phone calls with parents will take about 10 minutes and will involve questions about symptoms of SMA 1. Children will be followed until age 2.- Researchers are also interested in looking at medical records of children who are no longer alive or who are more than 2 years of age.
Parents or children do not have to come to the NIH. They will provide consent to view these records, and information over the telephone.
- No treatment or care will be provided as part of this study.
Detailed description
Objective:
To conduct a pilot, observational, retrospective and prospective, natural history study of infants affected with spinal muscular atrophy type 1 (SMA 1). The goal is to assess the feasibility of the study design in order to plan a larger study aimed at understanding the changing natural history and obtain current data on survival of patients affected with SMA 1. This information is important for designing clinical trials.
Study Population:
Up to 50 children born on or after January 1, 2007 with a clinical diagnosis of SMA 1 and genetic testing consistent with a homozygous mutation of the SMN 1 gene on chromosome 5q13 will be enrolled in the study.
Design:
This is a longitudinal pilot study to demonstrate study design feasibility and test outcome measures to assess the natural history of infants affected with SMA 1. Pertinent clinical and demographic data will be collected. The data collection will be retrospective for deceased infants and children who are alive but over age of 2 years at the time of enrollment. A combination of retrospective and prospective data will be collected for infants who are alive and less than 2 years of age at the time of enrollment. The data will be collected remotely from the National Institutes of Health (NIH) by medical chart reviews and/or telephone questionnaire obtained from the parent of the infant with SMA 1. Infants alive at enrollment will be followed prospectively until age 2 years or death, whichever occurs first.
Outcome Measures:
The primary outcome of this pilot study is to demonstrate the feasibility of the study design and outcome measures in patients with SMA 1.
Secondary outcomes include evaluation for time of events, i.e., time of ventilator support for >=16 hours a day continuously for more than 2 weeks and time of death.
Additional demographic and clinical data pertinent to respiratory and nutritional aspects will be collected to assess possible factors influencing the outcome measures.
Study design
- Time perspective
- Other
Who may qualify
- Ages
- 1 year to 6 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (7 listed)
Key exclusion criteria (1 listed)
- 1. Anticipated excessive emotional distress to the parents or caregivers from research procedures, based on physician and parent evaluation.
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
The primary outcome of this pilot study is to demonstrate the feasibility of the study design and test the outcome measures in patients with SMA 1.
1 secondary outcome
Secondary outcomes include evaluation for time of events, i.e., time of ventilator support for greater than or equal to 16 hours a day continuously for more than 2 weeks and time of death.
Results and safety
The study was stopped early. Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Dec 2019.
- Background: PubMed 15492357Chung BH, Wong VC, Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics. 2004 Nov;114(5):e548-53. doi: 10.1542/peds.2004-0668. Epub 2004 Oct 18.
- Background: PubMed 17998484Oskoui M, Levy G, Garland CJ, Gray JM, O'Hagen J, De Vivo DC, Kaufmann P. The changing natural history of spinal muscular atrophy type 1. Neurology. 2007 Nov 13;69(20):1931-6. doi: 10.1212/01.wnl.0000290830.40544.b9.
- Background: PubMed 15852397Swoboda KJ, Prior TW, Scott CB, McNaught TP, Wride MC, Reyna SP, Bromberg MB. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol. 2005 May;57(5):704-12. doi: 10.1002/ana.20473.
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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.
Minal J Bhanushali, 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 United States.
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 7 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: stopped early, as of the sponsor's last update on 12 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 United States. 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 was stopped early. Results are not available in the source record.
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?
The primary outcome of this pilot study is to demonstrate the feasibility of the study design and test the outcome measures in patients with SMA 1.. 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 NCT01547871, 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 12 Dec 2019.