Pompe Disease Therapeutic; Depends On the Age of the Patient & Severity of the Disease

 

Different Pompe disease therapeutic options can help ease its symptoms. Enzyme replacement therapy (ERT) is an approved treatment for people with Pompe disease. Pompe disease is a genetic disorder that results from the deficiency of an enzyme called acid alfa glucosidase (GAA), which breaks down complex sugars in the body. Currently, the life expectancy for late-onset Pompe disease is estimated to be 30 years when it first appears in children or teenagers, and 50 years for adults. Without Pompe disease therapeutic, infants will die. Most of the people have, heart problems, respiratory (breathing) problems, and almost all are plagued with muscle weakness. Thus, they will have to use wheelchairs or oxygen at some point.

Specialist teams (neurologists, respiratory therapists, heart doctors, etc.) can treat symptoms of Pompe disease and offer supportive care for those with Pompe disease. Pompe disease is an extremely rare (estimated at less than one in a million births), sometimes fatal and rarely inherited disease. The disease caused by a deficiency of GAA enzyme. This allows glycogen to be stored in a variety of tissues, primarily into cardiac muscle, skeletal muscles, and smooth muscles. It leads to respiratory problems, muscle weakness, and can also affects the heart and liver. There are three types of Pompe disease, such as late-onset, non-classic infantile-onset, and classic infantile-onset Pompe disease.

However, all three type of Pompe disease differ in severity and appear at different age. Late-onset usually appears later in childhood, non-classic infantile-onset may show symptoms by age of one, and classic infantile-onset appears within a few months of birth. According to the National Library of Medicine (NLM), Pompe disease affects around 1 in 40,000 people in the United States. The incidence of this disorder varies among different ethnic groups, and thus, there is an increasing demand for Pompe disease therapeutic in the U.S. Along with the ERT, there is a need of supportive care for people with Pompe disease, such as infusion cost, regular medicines, and physiotherapy, on monthly basis.