Spinal Muscular Atrophy Program

In July 2005 we began our study "Clinical Study of Spinal Muscular Atrophy". This is an observational study intended to better understand the natural course of spinal muscular atrophy (SMA), and to evaluate different measurement tools in preparation for upcoming clinical trials. This study is part of the Pediatric Neuromuscular Clinical Research (PCNR) Network's quest to better understand and treat SMA. This network is comprised of doctors and families at Columbia University, Children's Hospital of Philadelphia, and Children's Hospital Boston.

As part of this study, participants come to Children's Hospital Boston every two to three months for visits lasting between 2-5 hours. during these visits a series of evaluations and testing are preformed (not all are done in one visit). These include:

• History gathering
• Quality of life questionnaires
• A physical exam
• Gross motor testing and strength assessments
• Pulmonary function tests
• Motor Unit Number Estimation (a test for the number of motor nerve cells using electrical muscle recordings)
• DEXA (an X-ray test used to measure muscle mass)
• Blood tests
• Skin biopsy (optional)

Outcome measures are used in trials that evaluate the effectiveness of a medication or tests that measure changes in individuals with SMA. Unfortunately, the outcome measures currently available to us for these trials are not perfect. As such, the goal of this study is to evaluate the reliability of a test called "Electrical Impedance Myography". This test is non-invasive, pain free, and takes approximately 45 minutes.

This study, entitled "Measuring Disease Progression in Spinal Muscular Atrophy through the use of Electrical Impedance Myography" involves visits to the hospital every 6 months. However, since the testing only takes 45-60 minutes we frequently combined the testing for this study with other clinical visits or research visits.

In addition, to evaluate how helpful this testing is for individuals with SMA, we also need to learn how helpful it is for individuals without SMA in the study as well.

If you are interested in more information about any of these studies please contact Hailly Butler at 857-218-4677 pr hailly.butler@childrens.harvard.edu

Last year, Children's Hospital Boston was selected to be a site for a collaborative NINDS (National Institute for Neurological Disorders and Stroke) trial for SMA aimed at finding the safest dose of sodium phenylbutyrate. This study is not designed to determine if this medication is effective at treating symptoms of SMA or not. Enrollment for this study is closed nationally, but if you are interested in more information, please contact the study coordinator, Hailly Butler at 857-218-4677 or hailly.butler@childrens.harvard.edu