Infants With Spinal Muscular Atrophy Type I
|First Received Date ICMJE||March 6, 2012|
|Last Updated Date||November 27, 2013|
|Start Date ICMJE||February 2012|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE
||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.|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT01547871 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE
||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.|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Infants With Spinal Muscular Atrophy Type I|
|Official Title ICMJE||A Pilot Study of the Natural History of Infants With Spinal Muscular Atrophy (SMA) Type 1|
- 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.
- To study how the symptoms of SMA 1 progress in infants and children.
- Infants and children with SMA 1 born on or after January 1, 2007.
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.
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.
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.
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.
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 Type ICMJE||Observational|
|Study Design ICMJE||Not Provided|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Condition ICMJE||Spinal Muscular Atrophy|
|Intervention ICMJE||Not Provided|
|Study Group/Cohort (s)||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Recruiting|
|Estimated Enrollment ICMJE||50|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
1. Anticipated excessive emotional distress to the parents or caregivers from research procedures, based on physician and parent evaluation.
|Ages||1 Year to 6 Years|
|Accepts Healthy Volunteers||No|
|Location Countries ICMJE||United States|
|NCT Number ICMJE||NCT01547871|
|Other Study ID Numbers ICMJE||999912067, 12-N-N067|
|Has Data Monitoring Committee||Not Provided|
|Responsible Party||Not Provided|
|Study Sponsor ICMJE||National Institute of Neurological Disorders and Stroke (NINDS)|
|Collaborators ICMJE||Not Provided|
|Information Provided By||National Institutes of Health Clinical Center (CC)|
|Verification Date||November 2012|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP