Infants With Spinal Muscular Atrophy Type I

December 11, 2019 updated by: National Institute of Neurological Disorders and Stroke (NINDS)

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.

Study Overview

Status

Terminated

Conditions

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 Type

Observational

Enrollment (Actual)

4

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institute of Neurological Disorders and Stroke (NINDS), 9000 Rockville

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 year to 6 years (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

  • 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:<TAB>

1. Anticipated excessive emotional distress to the parents or caregivers from research procedures, based on physician and parent evaluation.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

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.

Secondary Outcome Measures

Outcome Measure
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.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Investigators

  • Principal Investigator: Minal J Bhanushali, M.D., National Institute of Neurological Disorders and Stroke (NINDS)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

February 7, 2012

Primary Completion

December 7, 2022

Study Completion

April 14, 2016

Study Registration Dates

First Submitted

March 6, 2012

First Submitted That Met QC Criteria

March 6, 2012

First Posted (Estimate)

March 8, 2012

Study Record Updates

Last Update Posted (Actual)

December 12, 2019

Last Update Submitted That Met QC Criteria

December 11, 2019

Last Verified

April 14, 2016

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 999912067
  • 12-N-N067

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Spinal Muscular Atrophy

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Benin

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe