The phase 1/2 gene therapy trial testing SPK-3006 to treat late onset Pompe disease has officially started with the first person being given their first (and theoretically only) dose.

SPK-3006, being developed by Spark Therapeutics, is an investigational gene therapy that has been engineered to produce secretable GAA, the enzyme missing in Pompe disease. This will hopefully result in sustained GAA plasma levels in these patients and greater uptake of GAA in muscle tissue. In mice models of Pompe disease, SPK-3006 decreased accumulation of glycogen, increased survival, and improved cardiac, respiratory and muscle function. In those studies, the induced liver expression of secretable GAA demonstrated greater ability in restoring muscle strength compared to bi-weekly enzyme replacement therapy (ERT). This suggests that SPK-3006 could replace ERT as the standard of care if human participants show a similarly positive response.

The RESOLUTE trial is an open-label phase 1/2 study designed to evaluate the safety, tolerability and efficacy of a single infusion of SPK-3006 in adults with clinically moderate late onset Pompe disease currently receiving ERT. The study is expected to enroll approximately 20 participants. There are 18 study locations with 4 locations (in California, Kansas, Minnesota, and Oregon) actively recruiting participants at this time.

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Tagged: clinical trials, gene therapy