As the search continues for SMA treatments and a cure, MDA is working to help those living with the disease today
MDA is working to improve life span and quality of life for people with spinal muscular atrophy (SMA). Those efforts include the creation of the MDA clinical neuromuscular disease registry, promotion of newborn screening for SMA and publication of a family friendly version of SMA standard of care guidelines.
MDA clinical neuromuscular disease registry
In early 2013, MDA launched its clinical neuromuscular disease registry, which initially is covering ALS (amyotrophic lateral sclerosis), Duchenne muscular dystrophy and SMA. (Eventually, the registry will be expanded to include other diseases under MDA’s umbrella.)
A registry is a database of information — typically about individuals diagnosed with a specific disease or condition — that enables tracking or measuring of any number of health-related or quality-of-life outcomes. By analyzing registry data, health care treatment — and in turn, health outcomes — can be improved. For example, longevity in people with cystic fibrosis increased by almost 33 percent between 1986 and 2010 with the help of information gleaned from the cystic fibrosis registry.
MDA’s clinician-entered registry (in which information is uploaded by the physician or other clinic team member) is expected to result in a better understanding of the interventions provided at each MDA clinic and how those interventions are connected to health outcomes for people with neuromuscular disease. Ultimately, MDA hopes to use the data collected by the registry to significantly improve survival and quality of life for those with neuromuscular disease, and to help advance clinical trials in these diseases.
SMA, ALS and DMD were chosen to be the initial diseases included in the MDA registry because there currently are a number of experimental therapies in development to address them, and because government-funded working groups have identified and standardized the information that is important to collect in clinical trials for these three diseases. In addition, there are formal “standards of care” for individuals with these diseases.
The Patient Advisory Group of the International Coordinating Committee for SMA Clinical Trials (which includes MDA, Families of SMA, Fight SMA and the SMA Foundation) in 2009 published a family friendly version of a consensus statement on care originally designed for physicians and published in August 2007 in the Journal of Child Neurology.
The family guide for SMA contains practical medical information that can be used as the basis for discussions with family doctors and health care teams.
Topics include confirming the diagnosis of SMA; managing breathing; managing eating and nutrition; managing movement and daily activities; and preparing for illness.
SMA newborn screening efforts
Evidence suggests that treatment administered in the earliest stages of the disease may lead to the best outcomes in SMA, highlighting the need for early and definitive diagnosis.
MDA is working to ensure that newborn screening for SMA can be implemented as soon as possible after an effective SMA treatment is approved. Newborn screening refers to the standard practice of screening all babies born within U.S. hospitals for certain diseases that can be detected at birth through a blood test.
MDA worked closely with policymakers to create House bill 1281 — the Newborn Screening Saves Lives Reauthorization Act — which reauthorizes critical federal programs that provide assistance to states to improve and expand their newborn screening programs. The act also reauthorizes the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children, a group that creates and maintains a list of recommendations on newborn screening and which conditions should be included.
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