20 Years of Research and Progress — A Story of Collaboration

This is the story of a groundbreaking collaboration that began with a Canadian physician's urgent call to a colleague at Duke University. The call was prompted by a family’s tragic history of losing children to Pompe disease, a rare and often fatal genetic disorder. Seeking a glimmer of hope, the Canadian doctor reached out for assistance. The Duke team, inspired by the University of California, San Francisco (UCSF)'s innovative prenatal therapy, saw an opportunity for a pioneering treatment approach.

The collaboration officially took shape at the WORLDSymposium 2020, a key event for experts in lysosomal diseases. Despite the global challenges posed by COVID-19, which imposed severe restrictions on travel and in-person consultations, the determined team of physicians pushed forward. Their focus was to attempt an unprecedented therapy prenatally, aiming to alter the course of Pompe disease before birth.

Through virtual meetings, meticulous planning, and a shared commitment to advancing medical science, the international team overcame the logistical hurdles imposed by the pandemic. Their efforts culminated in the administration of the novel prenatal therapy. The successful outcome of this collaboration is a testament to the relentless spirit of the medical community and the power of global teamwork. It also symbolizes hope and resilience for the affected family, who now celebrate their courageous daughter's life. This story not only highlights a medical breakthrough but also underscores the profound impact of collaborative innovation in the face of adversity.