dm+d

Unassigned

New Medicines

Glycogen storage disease type II (Pompe disease)

Information

New molecular entity
Spark Therapeutics
Spark Therapeutics

Development and Regulatory status

Phase II Clinical Trials
Phase II Clinical Trials
Phase II Clinical Trials

Category

An in vivo adeno-associated viral (AAV) gene therapy targeting the liver encoding acid alpha-glucosidase (GAA). Given as a single dose.
The overall prevalence has been estimated at 1 in 40,000, with 1 in 138,000 for the infantile form and 1 in 57,000 for the adult form. Infantile and adult forms are inherited as autosomal recessive conditions. The gene has been traced to chromosome 17 [1].
Glycogen storage disease type II (Pompe disease)
Intravenous infusion

Trial or other data

Feb 22PI/II RESOLUTE trial is recruiting [2].
Oct 20PI/II RESOLUTE trial to evaluate the safety, tolerability, and efficacy of a single intravenous infusion of SPK-3006 in adults with clinically moderate, late-onset Pompe disease receiving enzyme replacement therapy (ERT) starts (NCT04093349; SPK-3006-101). It will enrol 20 adults, including in the US and Europe (inc. UK at Salford Royal MHS Foundation Trust). Participants will be treated in sequential, dose-level cohorts. Primary outcomes are safety and immune response against the AAV capsid and GAA transgene; collection of these data is due to complete Oct 23 [2].