CHOC Children’s Given $8M to Develop Next-Generation Therapies for Pompe Disease

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by Mary Chapman |

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The Foundation of Caring has given $8 million to support CHOC Children’s efforts to develop next-generation therapies for Pompe disease.

In honor of the gift, the program has been renamed the Foundation of Caring Lysosomal Storage Disorder Program at CHOC Children’s. The comprehensive multidisciplinary program diagnoses and treats children and teens with lysosomal storage disorders (LSD) such as Pompe.

“This incredibly generous gift from the Foundation of Caring will help accelerate our work to unlock the challenges of Pompe and other lysosomal storage disorders, advancing our vision to develop permanent cures for patients with these conditions,” Raymond Wang, MD, a CHOC metabolic disorders specialist and the program’s director, said in a press release.

“We’re so tremendously grateful to have the Foundation of Caring’s support in CHOC’s goal to protect the magic of childhood.”

The foundation became aware of Wang’s efforts in Pompe some years ago when he was treating the great-granddaughter of its founder after her diagnosis. Since then, foundation support has helped Wang learn more about potential treatments for a disease that affects about one in 40,000 individuals in the United States.

Wang and his team have used CRISPR/CAS9 technology to create animal models of Pompe, a genetic disease characterized by the abnormal buildup inside cells of a sugar molecule called glycogen. This buildup impairs the performance of different organs and tissues, especially the heart, and respiratory and skeletal muscles. The foundation gift will enable Wang to build upon his CRISPR research to find treatments — and ultimately a cure — for Pompe and other LSDs.

“We are so pleased to support the important work of Dr. Wang and his team at CHOC to help find better treatment or, even better, a cure for Pompe disease for patients affected by the condition worldwide,” said a statement by the foundation’s board.

CHOC Children’s is one of a few centers in the United States with a specialized program for LSDs, providing individualized and multidisciplinary inpatient and outpatient care. CHOC offers a comprehensive team of specialists to collectively manage diseases such as Pompe and their effects on different parts of the body. It also offers a dedicated setting for diagnostic testing and therapy planning, and a specialized clinic coordinator to educate families about treatment and to follow up on appointments.