Spinal Muscular Atrophy Biomarkers Study

The National Institute of Neurological Disorders and Stroke, part of the National Institutes of Health, is looking for individuals to participate in clinical studies.  Participating in clinical trials allows you to play an active role in research on the nature and causes of many disorders of the brain and nervous system, and to possibly help physician-scientists develop future treatments.  The information below is designed to help you quickly learn about actively recruiting research studies for which you or someone you know may be eligible.

Description:

This study will identify biomarkers in spinal muscular atrophy (SMA), a rare, progressive neurological disease that affects both infants and children.  It results in loss of nerves in the spinal cord and weakness of the muscles connected with those nerves.  There is no treatment for SMA.  People with SMA have a higher than normal risk for progressive disability.  The most severely affected are at risk for breathing complications and early death.

Researchers have discovered that there is a “critical time period” when treatment is effective in animal models of SMA.  In SMA animal models, this time period is immediately after birth.  However, no one knows if such a critical time period exists in humans.  The purpose of this study is to determine if the critical time period exists in infants with SMA and to identify SMA biomarkers.  Biomarkers are objective ways to measure a disease process. 

The study is being conducted by the Network for Excellence in Neuroscience Clinical Trials (NeuroNEXT) at 15 sites around the United States.  Up to 54 volunteers will participate in the study.  Information will be collected from two groups:  infants with SMA and infants without neurological disease (also called the control group).

Participants will be enrolled in the study until they become 2 years of age.  The study consists of regular visits to the study site and testing such as motor function tests, non-invasive tests to measure the function of nerves and muscles, and blood draws.

Eligibility Criteria:

INCLUSION:

Healthy infants:

• Birth between 36 and 42 weeks inclusive of gestation
• Siblings of children with SMA must have had prior SMA genetic testing completed con-firming the infant is a healthy control
• Principal investigator feels the family/infant is able and willing to comply with study procedures
• Parent or guardian able to give informed consent

Infants with SMA:

• Birth between 36 and 42 weeks inclusive of gestation
• Positive SMN1 gene mutation/deletion
• Principal investigator feels the family/infant is able and willing to comply with study procedures
• Parent or guardian able to give informed consent

EXCLUSION:

• Use of any putative therapy intended to increase the amount of SMN protein in cells
• Enrollment in an SMA therapeutic trial at the time of enrollment in the SMA biomarker study
• Have a systemic illness requiring ongoing treatment, such as pneumonia
• Clinically significant abnormal findings (as determined by the investigator) on the physical examination or medical history (including history of tracheostomy tubes and ventilator-dependency)
• Dependency upon non-invasive ventilation support (e.g., BiPAP) for more than 12 hours/day

Study Design: 

Study Locations: 

For more information:

Contact: Amy Bartlett, telephone: 1-855-762-2466, Email: Amy.Bartlett@osumc.edu; or Natasha Soodoo, telephone: 617-643-5582; Email: nsoodoo@partners.org; or visit http://clinicaltrials.gov/ct2/show/NCT01736553 or http://www.youtube.com/watch?v=f8xGDFj-DLU

Last Reviewed July 3, 2013