CureDuchenne Link Invites MD Patients, Carriers to Help in Research
CureDuchenne has launched the first comprehensive data hub to connect biosamples and clinical and genetic data from people with Duchenne and Becker muscular dystrophies — as well as disease carriers — with clinicians, researchers, and therapy developers.
Called CureDuchenne Link, this next-generation data-sharing platform is expected to help scientists better understand these complex disorders and advance research toward a cure.
“With the launch of CureDuchenne Link, we hope to break down existing information silos and offer qualified researchers access to participant data and biosamples in one all-encompassing platform,” Debra Miller, CureDuchenne’s founder and CEO, said in a press release.
Duchenne and Becker are two muscular dystrophies caused by mutations in the DMD gene, which gives the instructions to produce a protein, dystrophin, that provides structural support and protection to muscle fibers.
While Duchenne-causing mutations result in the absence of dystrophin, those linked to Becker lead to the production of fewer or less functional dystrophin proteins, resulting in a typically slower disease progression.
“Duchenne and Becker are complex diseases with thousands of mutations,” Miller said. “To effect real change, we need research into every one of those mutations.”
“We turn to the entire community for help and encourage them to participate in a monumental shift for research and treatment development,” she added.
U.S. residents, from 4-week-old infants to adults with a diagnosis of Duchenne or Becker muscular dystrophy, and carriers — those without the disease but carrying a disease-causing mutation that can be past on to their children — are invited to be part of this initiative.
Eligible individuals or families residing in the U.S. and understanding English can register online starting July 9. They can then choose to provide biosamples (blood, urine, saliva, and skin and muscle samples), medical record information, and to answer questions related to quality of life, healthcare utilization, and other subjects.
Optional sample collection can be done at home (for patients and carriers age 13 or older), at a nearby Quest laboratory, or at a CureDuchenne Link event.
Collected information and biosamples will be stripped of personally identifiable information, such as the participant’s name and date of birth, encrypted, and given a unique, anonymous code. Research will be performed using only this “coded” information, with the participant’s identity remaining fully confidential.
By gathering quality data and biosamples from as large and diverse a population as possible, CureDuchenne Link will provide a holistic view of Duchenne and Becker muscular dystrophy for researchers across the world, “many of whom don’t have sufficient access to the volume of … data and/or biosamples needed to answer their research question,” CureDuchenne stated on the hub’s web page.
CureDuchenne Link is also the result of partnerships with technology and global healthcare leaders, including Therapeutic Research in Neuromuscular Disorders Solutions (TRiNDS), BC Platforms (BCP), DevIQ, GeneDx, Infinity Biologix, Quest Diagnostics, and Precision for Medicine.
“We are confident CureDuchenne Link will drive muscular dystrophy research forward, and are excited to support CureDuchenne by bringing our expertise to this monumental project,” said Lauren Morgenroth, TRiNDS’ CEO.
Particularly, BCP’s role in this 10-year project is to fully integrate a variety of data sources through its discovery and research platform (DRP). BCP will support data repository storage, as well as management and analysis tools for collected data.
In a separate press release, Nino Da Silva, BCP’s deputy managing director, said: “We are delighted to support CureDuchenne with the launch of CureDuchenne Link, leveraging our DRP. … We hope that the data hub will help scientists address this devastating disease and its high unmet medical need.”
Partners such as BC Platforms “ensures CureDuchenne Link delivers a world-class data hub,” Miller added.
“Together, we WILL cure Duchenne,” she said.