Susan Dillon, PhD, CEO of Aro Biotherapeutics, discusses the initiation of a phase 1b clinical trial for late onset Pompe disease.
Pompe disease is a rare genetic, lysosomal disorder that causes progressive weakness in heart and skeletal muscles. It is caused by mutations of the GAA gene that makes the enzyme acid alpha-glucosidase (GAA), which breaks down glycogen. These mutations in the GAA gene reduce or completely eliminate this essential enzyme, which causes glycogen buildup. The severity of the disease and the age of onset, which varies widely, are related to the degree of enzyme deficiency.
ABX1100 is an investigational CD71 receptor-binding Centyrin siRNA that targets and reduces the expression of GYS1 enzymes. A phase 1b trial of ABX1100 has been initiated in patients with late-onset Pompe disease, testing the safety and bioactivity of the treatment. In a recently completed phase 1a trial in normal healthy volunteers, ABX1100 illustrated durable reductions, lasting at least ten weeks, in GYS1 following a single dose.
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To learn more about Pompe disease and other rare lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/