Infants With Spinal Muscular Atrophy Type I

NCT01547871 | Terminated

• 2 other identifiers: 99991206712-N-N067
• Study Type: observational
• Target: 4
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Spinal Muscular Atrophy

Keywords

Natural History Study; Spinal Muscular Atrophy (SMA); Natural History

Outcome Measures

Primary Outcomes (1)

• 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.

Eligibility Criteria

• Age: 1 Year - 6 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead

Study Sites (1)

National Institute of Neurological Disorders and Stroke (NINDS), 9000 Rockville

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• 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.

  PMID: 15492357 BACKGROUND

• Oskoui 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.

  PMID: 17998484 BACKGROUND

• Swoboda 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.

  PMID: 15852397 BACKGROUND

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Officials

• Minal J Bhanushali, M.D.

  National Institute of Neurological Disorders and Stroke (NINDS)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: OTHER
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 6, 2012
• First Posted: March 8, 2012
• Study Start: February 7, 2012
• Study Completion: April 14, 2016
• Last Updated: December 12, 2019

Record last verified: 2016-04-14

Locations

US (1)