Pompe disease is caused by a defective or missing enzyme that breaks down glycogen.
If glycogen builds up. the muscles degenerate & contribute to heart failure.
Genzyme, Cambridge, MA, USA has begun trials allowed under the 1983 Orphan Drug Act allowing drugs for rare diseases
per 8/26/03 Wall Street Journal  www.wsj.com
The Cure - How a Father Raised $100 Million - and Bucked the Medical Establishment -  In a Quest to Save His Children Anand, Geeta  by Regan publishers
8/30/2006 www.wsj.com editorial about Patrick Crowley (and family with 2 Pompe children) who with others spearheaded a biotechnology startup Amicus Therapeutics Inc which attempts to develop treatment for genetic diseases.