An orphan disease is any disease that affects only a small percentage of the population. As many as 7,000 rare diseases affect human life. The total number of Americans living with a rare disease is estimated at between 25 and 30 million. In the EU, rare disease patients comprise 6% to 8 % of the population.
One such disease is Pompe disease, with an overall worldwide incidence estimated to be 1 in 40,000 live births. According to the US National Library of Medicine National Institutes of Health, the Pompe disease prevalence is approximately 1 in 28,000 in the United States. Pompe disease is mainly caused by pathogenic variations in the acid alpha-glucosidase (GAA)...
