Proposals for implementation of widespread screening of newborn babies for Pompe disease and Duchenne muscular dystrophy were delivered to a federal advisory committee
posted on March 20, 2013 - 12:07pm
Update July 22, 2013: This story was updated to reflect that, in April 2013, the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) was chartered and now fulfills the functions previously undertaken by the Secretary's Advisory Commitee on Heritable Disorders in Newborns and Children (SACHDNC).
A study of 11 long-term survivors of infantile-onset Pompe disease shows enzyme treatment can provide significant benefits, but deficits remain
posted on October 4, 2012 - 5:00am
A study of 11 children with infantile-onset Pompe disease (acid maltase deficiency) who started enzyme replacement therapy by the time they were 6 months old has shown the treatment can markedly improve the course of the disease, but that residual deficits persist.
You may never have heard of Pompe’s disease. It affects just 5,000 to 10,000 people in the United States, making it exceedingly rare and of little interest to the general public. But what it lacks in notoriety, it makes up for in personal devastation to those who have it.