Spark Therapeutics Announces First Participant Dosed in Phase 1/2 Study of Investigational Gene Therapy for Late-Onset Pompe Disease

First participant dosed in the RESOLUTESM trial, a Phase 1/2 dose-escalation study of SPK-3006 

Enrollment of approximately 20 total study participants is ongoing

PHILADELPHIA, February 1, 2021  (GLOBE NEWSWIRE)— Spark Therapeutics, a member of the Roche Group (SIX: RO, ROG; OTCQX: RHHBY) and a fully integrated, commercial gene therapy company dedicated to challenging the inevitability of genetic disease, today announced the dosing of the first participant in the Phase 1/2 RESOLUTESM trial of SPK-3006, an investigational liver-directed adeno-associated viral (AAV) vector gene therapy for late-onset Pompe disease (LOPD), a rare, inherited lysosomal storage disorder.

“Dosing the first participant in the Phase 1/2 RESOLUTE trial of investigational SPK-3006 for late-onset Pompe disease is an important milestone and first step to what we hope will ultimately allow us to bring an innovative gene therapy to these patients,” said Gallia G. Levy, M.D., Ph.D., chief medical officer of Spark Therapeutics. “We are deeply appreciative of the ongoing collaboration of the Pompe disease community as we continue to enroll participants in this Phase 1/2 study.”

The RESOLUTE trial is an open-label Phase 1/2, dose-escalation gene transfer study designed to evaluate the safety, tolerability and efficacy of a single intravenous infusion of investigational SPK-3006, an AAV vector-based gene therapy, developed in collaboration with Genethon, in adults with clinically moderate LOPD currently receiving enzyme replacement therapy. The study is expected to enroll approximately 20 participants receiving the investigational gene therapy in sequential, dose-level cohorts. Additional details are available on (NCT04093349).

“We are honored to have the first participant dosed in this clinical trial, which we hope will lead us to introduce a novel therapeutic option for patients living with late-onset Pompe disease,” said Principal Investigator Tahseen Mozaffar, M.D., University of California Irvine Health.

“The International Pompe Association has been proud to collaborate with Spark Therapeutics to enhance the Pompe disease community’s understanding of gene therapy research,” said Tiffany House, International Pompe Association Board Chairman. “We look forward to the progress in the Phase 1/2 RESOLUTE trial, as well as the ongoing work aimed at developing gene therapies that have the potential to help individuals living with genetic diseases.”

Pompe disease is a rare, inherited lysosomal storage disorder. It is a progressive, often life-limiting disease caused by the buildup of a complex sugar, glycogen, in the body’s cells. Mutations in the gene encoding acid alpha-glucosidase (GAA) result in deficiencies of the GAA enzyme and limit the breakdown of glycogen. For patients living with LOPD, the respiratory system, locomotion and maintenance of gait are the most critically impacted. These symptoms commonly result in patients becoming wheelchair bound and requiring respiratory support, which may result in reduced life-expectancy.

About SPK-3006 for Pompe disease
SPK-3006 is an investigational liver-directed AAV gene therapy for the potential treatment of late-onset Pompe disease (LOPD). SPK-3006 has been engineered to produce a modified enzyme (secretable GAA) that is produced by the liver, which may result in sustained GAA plasma levels and could potentially provide greater uptake in muscle tissue. The transgene integrates technologies designed at and licensed from Genethon, where the in-vivo proof of concept in pre-clinical models was demonstrated. Spark Therapeutics retains global commercialization rights to SPK-3006.

About Spark Therapeutics
At Spark Therapeutics, a fully integrated, commercial company committed to discovering, developing and delivering gene therapies, we challenge the inevitability of genetic diseases, including blindness, hemophilia, lysosomal storage disorders and neurodegenerative diseases. We currently have four programs in clinical trials. At Spark, a member of the Roche Group, we see the path to a world where no life is limited by genetic disease. For more information, visit, and follow us on Twitter and LinkedIn.

Media Contact:
Kevin Giordano
(215) 294-9942