Following on the successful passage of Illinois Senate Bill 1566 in November 2007, Missouri Bill HB716 in July 2009, and legislation in New Mexico in March 2010, The Evanosky Foundation will continue to advocate for newborn screening for MLD, as well as other lysosomal storage disorders (LSDs), here in the United States.  At present, commercialized, high-output newborn screening tests (also known as assays) have been developed for five LSDs:  Fabry, Gaucher, Pompe, Niemann-Pick and Krabbe disease.  These tests have been subjected to rigorous quality controls and have been certified accurate and appropriate to use in state newborn testing labs.  For these diseases, the newborn screening tests have been designed in such a way that one assay can test for five diseases.   Researchers are currently developing a newborn screen assay for MLD, which is also an LSD, that can leverage the existing LSD assays.  We promise that we will work with both federal and state public health authorities to include MLD as a core disease that is recommended for screening in all states.

We have also developed a working relationship with the Centers for Disease Control Newborn Screening Quality Assurance Program (NSQAP) and are assisting them with their newborn screening program for lysosomal storage disorders.  At present, the NSQAP supports 73 domestic laboratories as well as an additional 53 international newborn screening laboratories.  By identifying children affected by an LSD at birth, The Evanosky Foundation knows that a family will have more treatment options available--like cord blood stem cell transplants and/or enzyme replacement therapy (see the LSD Fact Sheet by clicking here).  

Right now, many children are misdiagnosed with other diseases or leukodystrophies and may not receive a correct diagnosis of MLD or their diagnosis may be delayed.   This makes it difficult to identify when symptoms appear or the optimal time to begin treatment.  However, once newborn screening is widely available in the United States, we will be able to identify children affected by MLD at birth and be able to learn more about how the disease progresses.  In order to capture this valuable information, a registry or systematic method for capturing this data must be used.  As a result, The Evanosky Foundation gave $35,000 to Dr. Maria Escolar, Director of the Neurodevelopmental Function in Rare Disorders (NFRD) Program at the University of North Carolina at Chapel Hill, to develop an internet-based system to track this information.  This system has been prototyped and will track approximately 350 variables to help researchers understand the progression of MLD and how the disease responds to different treatments.  It is our hope that this investment will be the foundation for a registry, or database, that can be used not only in the United States, but throughout the world.

To find out more about Newborn Screening, click here.