dm+d

Unassigned

New Medicines

Glycogen storage disease type II (Pompe disease)

Information

New molecular entity
Astellas Gene Therapies
Astellas Gene Therapies

Development and Regulatory status

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

Category

An AAV8-based gene therapy that codes for the GAA gene. Designed to deliver a functional GAA gene that is efficiently transduced to express GAA directly in tissues affected by the disease, including skeletal and cardiac muscle. 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

Apr 22PI/II FORTIS trial is recruiting [2].
Oct 20PI/II FORTIS trial to assess the safety and efficacy of intravenously administered AT 845 in patients with late onset Pompe disease starts (NCT04174105; AT845-01). The open-label trial intends to enrol 12 patients in the US, Germany and the UK (at Newcastle Upon Tyne Hospitals Foundation Trust Clinical Research Facility). Subjects will receive a single dose of AT845 delivered via intravenous (IV) infusion. Up to 3 nominal dose levels of AT845 are planned to be evaluated in this study. A single AT845 administration via IV infusion is planned for each subject. The initial dosing cohort received a single dose of 3x10^13 vg/kg of AT845. The second dose cohort will receive a single dose of 6×10^13 vg/kg. The third dose cohort will receive a single dose of 1×10^14 vg/kg. Dose escalation between cohorts will be based on evaluations of safety and in consultation with the independent DMC. There will be a core observation period of 48 weeks with scheduled visits and assessments. Following the conclusion of the core observation period, subjects will be seen every 6 months for a safety follow-up visit for up to 5 years post-dose. Primary outcomes are rfequency of adverse events (AEs), serious adverse events (SAEs), and changes from baseline in relevant clinical laboratory tests, change from baseline in GAA enzymatic activity in muscle biopsies at week 12, and change from baseline in GAA protein expression in muscle biopsies at week 12. Collection of these data is due to complete Dec 22 [2].