We believe medical studies should be done in a truly collaborative way, where people living with the disease are treated as the experts, and researchers study the information streams that reflect the true lived experiences of the families.
Advocacy organizations—the National MPS Society and Genetic Alliance—partnered with Luna to achieve this goal. In early December, we started enrolling participants in a health information-sharing and medical-discovery digital community that begins in the homes of families living with Hunter syndrome.
This program demonstrates a study framework where all parties are better served while enhancing research goals. This design ensures the clinical and behavioral features and key endpoints are incorporated into the drug discovery process. This can only happen when families—those who live daily with the disease and know the lived experience best—have a seat at the table as partners.
In conjunction with Takeda Pharmaceutical Company, this partnership will advance the understanding of Hunter syndrome and help develop therapeutic interventions for patients with this rare genetic disease.
Participants will share what matters most to them about living with Hunter syndrome. The program provides an opportunity for individuals to engage with a genetic counselor and control the use of their data throughout the study. Access to these data streams, including whole-genome sequencing (WGS), medical history, and patient-generated health data, will form the basis for discovery and development.
Developing a Family-centered Study Design
“We are excited to work with Takeda in exactly our sweet spot. It is we who know these families and their affected children the best. They look to us for support and long-term solutions,” said Terri L. Klein, CNPM, president and CEO of the National MPS Society.
Klein said the organization is happy to be an integral partner in the study, which will engage and support patients with Hunter syndrome and their families throughout the process.
“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,” said Sharon Terry, president and CEO of Genetic Alliance. The nonprofit advocacy organization is providing engagement and regulatory expertise for the program. For more than three decades, it has developed and deployed tools that allow families to be in charge of their health to drive research.
Understanding Hunter Syndrome
An inherited disease that occurs almost exclusively in males, Hunter syndrome, also known as Mucopolysaccharidosis type II (MPS II), is a lysosomal storage disorder. It is caused by mutations in the iduronate 2-sulfatase (IDS) gene, which affects every organ of the body.
Conducting WGS will support better understanding Hunter syndrome’s natural history, disease heterogeneity, and the contribution of IDS mutations and genetic modifiers outside of IDS to disease presentation.
More than 600 IDS disease-causing mutations have been implicated in Hunter syndrome. While some mutation types are typically associated with neuronopathic disease and cognitive impairment, single-nucleotide mutations show variable association with other disease manifestations.
Although the age of onset, disease severity, and rate of progression of Hunter syndrome varies significantly, initial symptoms usually become apparent in children from two to four years of age. There is currently no cure for this condition.
“This project exemplifies the interdependency between research and the patients and families who we hope will one day benefit from potential breakthroughs that result from the program,” said Dan Curran, M.D., Head, Rare Genetics & Hematology Therapeutic Area Unit at Takeda. “We have had the privilege of working with the National MPS Society and the global Hunter syndrome community for many years as part of our ongoing commitment to delivering novel therapies, disease education and support resources to those affected by this rare lysosomal storage disorder. We are proud to partner together to create more patient-centered discovery programs.”
To learn how Luna can help your organization bring together individuals, communities and researchers to produce powerful insights, contact us at firstname.lastname@example.org.
Luna’s suite of tools and services connects communities with researchers to accelerate health discoveries. With participation from more than 180 countries and communities advancing causes including disease-specific, public health, environmental, and emerging interests, Luna empowers these collectives to gather a wide range of data — health records, lived experience, disease history, genomics, and more – for research.
Luna gives academia and industry everything they need from engagement with study participants to data analysis across multiple modalities using a common data model. The platform is compliant with clinical regulatory requirements and international consumer data privacy laws.
By providing privacy-protected individuals a way to continually engage, Luna transforms the traditional patient-disconnected database into a dynamic, longitudinal discovery environment where researchers, industry, and community leaders can leverage a range of tools to surface insights and trends, study disease natural history and biomarkers, and enroll in clinical studies and trials.