The Secretary’s Discretionary Advisory Committee for Heritable Disorders in Newborns and Children (DACHDNC/SACHDNC), in a vote of 11 – 2, recommended the addition of Pompe Disease to the recommended uniform newborn screening panel (RUSP). This recommendation will be sent to the Secretary of Health and Human Services to approve adding Pompe to the RUSP.
After the HHS Secretary, Kathleen Sebelius, approves the committee’s recommendation, it is expected to be 3-5 years before the majority of states will be screening for Pompe. Several states are running pilot and test programs already.
Pompe and MLD are both lysosomal diseases. The Pompe NBS test uses a Tandem Mass Spectrometer, likely the same instrument that MLD will require when its screen is optimized.
Much like MLD, Pompe has several ages of onset, the early onset is the primary target of the NBS, but the screen will also detect a later onset form. Early onset Pompe, if undetected, has an average age of death before 9 months. An enzyme replacement therapy developed by Genzyme, Myozyme, was approved by the FDA in 2006.
The development of Myozyme was the focus of the 2010 film about the Crowley family, Extraordinary Measures, starring Brendan Fraser, Harrison Ford, and Keri Russell. While the film “Hollywood-izes” the story, compresses the actual time the development took, and shows an optimized ending, it is a good overview of what it takes sometimes to get new therapies developed for rare diseases.
A link to the press release can be seen here.