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Debra Miller first noticed that something was wrong when her four-year-old son Hawken had trouble keeping up with the other kids while playing soccer. After two long years of hospital visits and inconclusive tests, they finally received a proper diagnosis of Duchenne muscular dystrophy, a genetic disorder characterized by progressive muscle degeneration and weakness that primarily affects boys. This inspired Debra and her husband Paul to found CureDuchenne, a nonprofit aimed at accelerating drug development for the treatment of Duchenne, to try and save her son and thousands of other boys afflicted with this rare disease.
Over the last 18 years, CureDuchenne has become a leading advocacy organization addressing the needs of the Duchenne community. Their innovative venture philanthropy model has been extremely successful in funding groundbreaking research, early diagnosis, and treatment access. In engaging drug developers working on this disease, the CureDuchenne team came across a recurrent problem—scientists were unable to easily access patient biospecimens to advance their research. Although some academic institutions had individual collections, these samples often were not associated with the appropriate medical records and were frequently in silos, making it difficult for researchers to utilize them.
To address this challenge, CureDuchenne set up a pilot biobank in 2019, but soon realized they needed a more scalable solution that could be launched nationwide. Importantly, the platform had to be participant-centric and able to integrate diverse types of data in a single data warehouse. After interviewing and vetting multiple vendors, the team finally managed to arrive at a solution. In the summer of 2021, CureDuchenne launched CureDuchenne Link™, the nation’s first Duchenne and Becker muscular dystrophy data hub that directly connects data and biospecimens provided by the patient community with scientists and drug developers everywhere.
CureDuchenne Link is powered by technology from BC Platforms, a global leader in healthcare data management, analytics, and access. The data warehouse uses BC|INSIGHT, a HIPAA-compliant translational research platform, which allows for automated ingestion and harmonization of clinical information and multiple data types including genomics and other omics data. Researchers can interrogate and visualize data on this platform quickly using in-built tools for data curation and statistical analysis or customize their data exploration with the open analytics ecosystem. Additionally, BC|INSIGHT provides fine-grained access management and auditing tools, ensuring that CureDuchenne can maintain data integrity and patient confidentiality while allowing for easy collaboration with researchers and drug developers.
“Choosing BC Platforms gave us the most power and flexibility,” says Debra Miller. “We put so much energy and effort into building this platform that we would love nothing more than to be able to shortcut this process for other rare disease organizations that are looking for similar solutions. BC Platforms is a key technology partner that we would recommend.”
Nationwide participant enrollment for CureDuchenne Link opened on July 9, 2021. The team is looking to recruit 5,000 participants either diagnosed with—or who are carriers of—Duchenne or Becker muscular dystrophy. Ultimately, this data hub, providing a holistic view of biospecimens integrated with clinical, genomic, and patient-reported data, will be an invaluable resource for researchers and drug developers. This will undoubtedly help to accelerate the discovery of biomarkers, as well as the development of future treatments for this disease.
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