Priya Kishnani, MD, Professor of Pediatrics at Duke University Medical Center, discusses recent clinical trials in Pompe disease.
Pompe disease is a rare genetic, lysosomal disorder that causes progressive weakness in heart and skeletal muscles. It is caused by mutations in a gene that makes the enzyme acid alpha-glucosidase (GAA), which the body uses to break down glycogen. These mutations in the GAA gene reduce or completely eliminate this essential enzyme, which causes buildup. The severity of the disease and the age of onset, which varies widely, are related to the degree of enzyme deficiency.
There are two forms of Pompe disease, early onset in infants and late onset in juveniles and adults. omplete or near complete deficiency of GAA causes early onset. Symptoms begin in the first months of life, including:
- Feeding problems
- Poor weight gain
- Trouble breathing
- Muscle weakness
- Enlarged heart
- Floppiness and head lag
Late onset results from partial deficiency of GAA. It can begin as early as the first decade of childhood or well into adulthood. Muscle weakness is usually the first symptom to appear and it will progress. That progression can impact several organ systems but can be attenuated by enzyme replacement therapy.
Enzyme replacement therapy is the primary treatment for Pompe disease. Dr. Kishnani stresses the importance of the two approved therapies, alglucosidase alfa and avalglucosidare alfa, in targeting the musculoskeletal effects of this disorder. Data presented at WORLDSymposium 2024 illustrates the significant improvement of ptosis, the drooping of the upper eyelids, in patients who switch from alglucosidase alfa to avalglucosidare alfa.
For more information on Pompe disease and other rare lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/