To address the need in precision medicine for human biological specimens, CureDuchenne is creating a biobank to provide Duchenne muscular dystrophy (DMD) researchers with a collection of blood and skin tissue samples.
The overarching goal is to use the biorepository to fuel and advance DMD research. The CureDuchenne Biobank is being established in partnership with Tahseen Mozaffar, MD, of the University of California, Irvine (UCI) School of Medicine, who will lead strategic development and implementation. RUCDR Infinite Biologics, the largest university-based biobank, will handle services.
Scientific sampling is expected to begin immediately at CureDuchenne Cares events, which offer patients, families and healthcare professionals information, resources, and training. Patients and their immediate blood relatives will be asked to voluntarily contribute minimally invasive blood and tissue samples.
“CureDuchenne is committed to supporting projects that could lead to a cure for Duchenne. But with limited resources to conduct research, scientists at academic institutions, biotechnology and pharmaceutical companies are not able to conduct the work necessary to find a cure for every child with Duchenne,” Debra Miller, CureDuchenne’s founder and CEO, said in a press release.
“To fill that gap, it’s important to provide researchers with free and unrestricted access to the cell lines they need for Duchenne research.”
“Advances in precision medicine rely on open-access biobanks with human biological specimens for analysis with the latest technologies long after the time of their collection,” said Andrew Brooks, chief operating officer of RUCDR Infinite Biologics. “We are thrilled to add Duchenne to the growing list of biobanks to help cure diseases like Duchenne.”
To help ensure that everyone living with DMD prospectively benefits from research, CureDuchenne hopes to collect samples from patients from disparate age ranges, genetic mutations, and ambulatory statuses, as well as from diverse racial, cultural, and socioeconomic groups.
“Only 5 percent of rare diseases have a treatment approved by the [U.S. Food and Drug Administration], mostly due to the lack of high-quality biospecimens for research,” said Mozaffar, professor and interim chair of the department of neurology at UCI School of Medicine.
”Human specimens have long been used for translational purposes in cancer research to investigate disease pathogenesis [development], to test scientific hypotheses and to assess biomarkers identified in experimental studies.”
The de-identified samples and data will foster development of gene mutation-specific patient cell lines, which any scientist may use to develop tailored therapies. They will also contribute to genetic investigations to learn more about how mutations affect disease progression and treatment response. In addition, donations will advance research into how to harness immune response for more effective treatments.
“Having access to patient cells is the first step in pursuing precision medicine initiatives that will enable us to facilitate families getting involved and engaged in research, and ensure all stakeholders are able to conduct research for all individuals living with Duchenne,” said Romina Foster-Bonds, CureDuchenne’s director of programs and biobank lead.
The CureDuchenne Biobank board will consist of experts in biorepositories and registries, technology transfers, genetics, neuromuscular disease, and immunology, in addition to ethical, legal, and social issues. Along with CureDuchenne representatives, it will determine biobank access.