Spark Voices

Creating a path

The Power of Connections: Creating New Paths in Treating Pompe Disease

For individuals living with Pompe disease, everyday tasks – activities most people don’t think twice about, such as opening a jar or doing laundry – can often become more difficult to complete, or even take on in the first place.1

Caused by genetic mutations in the acid alpha-glucosidase (GAA) gene that render cells unable to eliminate glycogen, Pompe disease causes an excessive buildup of glycogen in the body. Left unaddressed, this buildup can eventually result in irreversible tissue damage, especially to the muscles, heart, and brain.2, 3, 4, 5

To help manage the disease and slow its progression, the standard of care for many people is enzyme replacement therapy, which provides the body with regular doses of functional GAA enzyme needed to eliminate excess glycogen.6

But there is more research that we can do. Recently, Pompe disease has become the focus of several investigational gene therapies, including the ongoing work at Spark® Therapeutics. With these investigational therapies, researchers hope to provide a long-term, steady supply of GAA enzyme to the entire body in a single administration, thereby correcting glycogen accumulation and halting further damage at the cellular level. This approach has the potential to provide an additional option to individuals living with Pompe disease.

Progressing gene therapies for Pompe disease goes beyond carrying out laboratory and clinical studies. The conversations and collaborations researchers have with the Pompe community deepen our understanding of the lived experiences of patients and their families. At Spark, these insights inform every aspect of our research and clinical efforts.

Connecting today and every day

Understanding the day-to-day impact on the communities effected by Pompe disease is as important as understanding the science behind the disease. For this reason, individuals living with Pompe disease – as well as their friends, families, and caregivers – and the patient advocacy community all play a critical role in supporting ongoing research. Through our conversations and close collaborations with the Pompe community, we are continuously learning about the full burden of Pompe disease to ensure that these potentially life-changing therapies are being developed with the needs of Pompe patients paramount in our minds.

Today marks the 9th International Pompe Day, a day sponsored by the International Pompe Association (IPA) to raise global awareness about this rare genetic disease. Each year, this day offers people around the world an opportunity to educate themselves about Pompe disease and its impacts on patients and their families.

For this year’s International Pompe Day, the IPA has invited people in the global Pompe community to record and share short video conversations about their lives with Pompe disease, and how building connections with others gives them strength and resilience. These conversations, which are available on IPA’s website, remind us that our connections with the Pompe community are important every day of the year.  It is imperative that we continue these dialogues.

At Spark we are proud to reflect upon and participate in International Pompe Day. We will continue thereafter, as we work with affected individuals, advocates, and leading researchers on the path to understanding Pompe disease and continuing to develop investigational gene therapies, hoping to find novel treatments for this serious disease.

 

  1. Pompe Disease News. Your Daily Routine With Late Onset Pompe Disease. Accessed 04-12-2022.
  2. Lim, Jeong-A et al. “Pompe disease: from pathophysiology to therapy and back again.” Frontiers in aging neuroscience vol. 6 177. 23 Jul. 2014, doi:10.3389/fnagi.2014.00177
  3. Korlimarla, Aditi et al. “An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond.” Annals of translational medicine vol. 7,13 (2019): 289. doi:10.21037/atm.2019.04.49
  4. Pompe Disease News. Causes of Pompe Disease. Accessed 04-12-2022.
  5. Pompe Disease News. Inheritance of Pompe Disease. Accessed 04-12-2022.
  6. Puzzo, Francesco et al. “Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.” Science translational medicine vol. 9,418 (2017): eaam6375. doi:10.1126/scitranslmed.aam6375
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