Help Launch the  First  PPA2 Heart Research Study

Claire's Story

Claire was a healthy, driven Division I athlete with no known heart problems. Training, competing, and pushing herself to succeed were part of everyday life. Then one night everything changed. 

After extensive testing, doctors discovered the cause: a rare genetic mutation affecting the PPA2 gene.

For families like Claire’s, one of the hardest realities is how little research exists to explain why this happens or how it can be prevented.

Understanding PPA2

PPA2 deficiency is a rare mitochondrial disease that can cause severe heart disease and sudden cardiac death in children and young adults.

Today, doctors and researchers still do not fully understand:

• Why PPA2 mutations cause sudden cardiac events

• How the disease affects heart muscle cells

• What treatments could help prevent these events

Without research, families and physicians are left with uncertainty.

The Research

We are partnering with physician-scientists at the University of Minnesota to create the first patient-derived stem cell model of PPA2 deficiency.

Using advanced stem cell technology, researchers will transform patient stem cells into beating heart muscle cells in the laboratory, allowing scientists to study exactly how PPA2 mutations affect the heart and understand why sudden cardiac events occur.

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