Infants With Spinal Muscular Atrophy Type I
| Status: | Terminated |
|---|---|
| Conditions: | Neurology, Orthopedic |
| Therapuetic Areas: | Neurology, Orthopedics / Podiatry |
| Healthy: | No |
| Age Range: | 1 - 6 |
| Updated: | 3/27/2019 |
| Start Date: | February 7, 2012 |
| End Date: | April 14, 2016 |
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.
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.
- 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.
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.
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.
- INCLUSION CRITERIA:
1. Diagnosis of SMA 1 in infancy (i.e. less than 2 years of age)
2. Symptoms of motor weakness and hypotonia, as documented by a clinician with onset
before age 6 months
3. Inability to sit without support at age 8 months
4. Genetic testing consistent with mutation or deletion of the SMN 1 gene on
chromosome 5q
5. Born on or after January 1, 2007
6. At least one parent is able to provide written informed consent
7. Born and living in United States of America
EXCLUSION CRITERIA:
1. Anticipated excessive emotional distress to the parents or caregivers from research
procedures, based on physician and parent evaluation.
We found this trial at
1
site
Bethesda, Maryland 20892
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