RARE Daily

Takeda, National MPS Society, Luna, and Genetic Alliance Launch Community-Led Discovery Program for Hunter Syndrome

February 4, 2022

The National MPS Society, Luna, and Genetic Alliance launched a digital drug discovery community in partnership with Takeda Pharmaceutical to advance the understanding of and develop therapeutic interventions for patients with Mucopolysaccharidosis type II, also known as Hunter syndrome.

Mucopolysaccharidosis type II (MPS II) is a rare lysosomal inborn error of metabolism caused by mutations in the iduronate 2-sulfatase (IDS) gene that affect every organ of the body. Current knowledge of the disease and limited access to deep longitudinal clinical data support the need to conduct whole genome sequencing to better understand disease natural history, disease heterogeneity, and the contribution of IDS mutations as well as genetic modifiers outside of IDS to disease presentation. More than 600 IDS disease-causing mutations have been implicated in MPS II. While some mutation types are typically associated with neuronopathic disease and cognitive impairment, single nucleotide mutations show variable association with other disease manifestations.

Sponsored by Takeda, the program leverages whole-genome sequencing to create a longitudinal data stream that can be viewed across different lenses between industry and the patient community. The comprehensive study–inclusive of input from patients and families, patient advocates, and patient-centric data stewardship–is designed to ensure that the most relevant clinical and behavioral features and key endpoints are incorporated in the drug discovery process.

Access to these data streams, including medical history and patient-generated health data, will form the basis for discovery and development. Genetic Alliance is providing the partners with engagement and regulatory expertise for this program.

“For more than three decades, Genetic Alliance has created and deployed tools that put families in charge of their health, sharing their health data to help drive research,” said Sharon Terry, president and CEO of Genetic Alliance. “The study framework allows for patients to participate entirely virtually, which reduces the burden on families. This allows greater participation from more diverse populations, expedites study recruitment, and amplifies the statistical power for discovery—creating unique benefits for both participants and researchers.”

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