Working Toward a Breakthrough Together on International Pompe Day

By: Gallia Levy, M.D., Ph.D., Chief Medical Officer, Spark Therapeutics

April 15 marks International Pompe Day, an opportunity to educate ourselves and raise awareness about the rare and complex impact of this inherited lysosomal storage disorder. This year's theme, "Pompe Around the World," calls on patients, caregivers, healthcare providers, advocates and researchers to participate in a global dialogue and connect with this community. It reminds us that achieving a brighter future for those affected by Pompe disease will require sustained and collective action from all of us.

At Spark Therapeutics, our commitment is stronger than ever—and I am proud of our ongoing collaboration with the International Pompe Association and the broader Pompe community, as we work together to address unmet needs and enhance the Pompe disease community's understanding of gene therapy research.

Spark is dedicated to empowering members of the Pompe patient community. This involves listening to those affected by Pompe disease to understand precisely how the disease impacts overall quality of life and how symptoms like pain, difficulty walking and fatigue can get in the way of daily activities. These insights help us to understand the full burden of Pompe disease, so we can endeavor to advance new options to address the most urgent medical needs. 

Guided by this foundational understanding, our aim is to develop and safely research a gene therapy that will provide a durable and meaningful benefit for those living with Pompe disease. Despite the variability in symptoms and disease manifestations, all individuals living with Pompe disease have mutations in the GAA gene, leading to reduced or missing acid alpha glucosidase enzyme. As a single gene disorder with well understood biochemistry and natural history, we believe gene therapy holds significant potential in treating this condition.

Through our global RESOLUTE clinical trial, we are investigating the safety and efficacy of an experimental gene therapy for people with late-onset Pompe disease, and we hope these efforts will ultimately allow us to deliver a novel therapy to patients in need of innovative options. As we actively enroll participants in the RESOLUTE clinical trial, we are honored to collaborate with the Pompe disease community to advance understanding of gene therapy research, enabling people with this disease around the world to make informed decisions about whether gene therapy may be the right therapeutic choice for them.

At every step of the way, the Pompe disease community inspires us by connecting patients and families to education, research, support services and to each other. This community is a reminder of how many lives are impacted by this disease and fuels us to continue working tirelessly toward a breakthrough.

To learn more about Spark Therapeutics’ work in gene therapy, or to learn if you or someone you love may be eligible to participate in a clinical trial, visit ClinicalTrials.gov.

Amy K. Fisher, MS, CGC (she/her)

Head of Patient Advocacy

Spark Therapeutics

3737 Market Street

Philadelphia, PA 19104

O:   215-220-6288

www.sparktx.com