Collaboration seeks to create central database for DMD, BMD research
Effort will speed up translating research findings into treatments
“The collaboration will not only enhance our ability to develop a unified data repository but also accelerate the translation of research findings into effective treatments, giving hope to patients and their families,” George Paliouras, PhD, chairman of the DDF, said in a press release. “We are thrilled to join forces with D-RSC in our shared mission to improve the lives of individuals with dystrophinopathies.”
A one-stop shop for studying DMD, BMD
DMD and BMD are dystrophinopathies — conditions caused by the reduced functionality of the muscle protein dystrophin. DMD is caused by mutations that stop muscles from making the protein, whereas in the milder BMD, it’s made at insufficient levels or doesn’t function properly.
Dystrophin normally acts like a shock absorber in muscle cells, helping to cushion them and prevent wear and tear during movement. Without a working version of the protein, muscles accumulate damage faster, leading to symptoms like progressive weakness that characterize DMD and BMD.
Although researchers have been studying dystrophinopathies for decades, there hasn’t been a single unified platform where data can be stored. The collaboration seeks to create one and combine a number of different datasets so researchers will have a one-stop shop to access large amounts of information.
“We are excited for the opportunity to collaborate with the team of scientists and patient advocates at DDF and continue expanding our collaborations globally,” said Ramona Belfiore-Oshan, PhD, executive director of the D-RSC.
The project will take advantage of C-Path’s Rare Disease Cure Accelerator-Data and Analytics Platform (RDCA-DAP), launched in 2021 to standardize data collection in rare disorders. The D-RSC has worked to develop a clinical trial simulator for DMD and a guide to standardize terminology and data collection.
“D-RSC and DDF both contribute to a shared mission and we look forward to promoting vibrant discussions and mission-driven solutions to advance drug development for Duchenne and other dystrophinopathies,” Belfiore-Oshan said.