Cure SMA and Parent Project Muscular Dystrophy (PPMD) have formed a strategic partnership with Prometheus Research to improve data collection and analysis for patients with spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD).
Both U.S. nonprofit groups have developed notable patient registry initiatives in the past decade. The Cure SMA clinical data registry collects information from patient electronic health records at 10 sites nationwide in the Cure SMA Care Center Network, which was established in 2018.
PPMD runs the world’s largest patient-reported registry for Duchenne and Becker muscular dystrophy. The Duchenne Registry, with nearly 5,000 patients, works with PPMD’s 24 Certified Duchenne Care Centers nationwide and recently published a 10-year report to inform researchers and sponsors about patient-reported outcomes, according to a press release.
“Our organizations have grown up together,” Pat Furlong, PPMD’s founding president and CEO, said in a phone interview. “We’ve shared ideas and learned from each other for many years.”
Although PPMD and Cure SMA independently sought new technology partners for their respective registries, their searches took them to the same vendor: Prometheus.
“It became clear that there were natural synergies between the organizations because of what was of interest to them today and in the future, and that they could collaborate at a deeper level and make sure that the software that they were implementing was complementary,” David Voccola, co-founder of Prometheus, said in a phone interview from New Haven, Connecticut.
Voccola said the partnership between PPMD and Cure SMA sets a precedent.
“Rare disease [groups] have long believed that the solution required for their organization would be highly specific, but we’re seeing a huge push in biotechnology and medicine making rare disease much more amenable to collaboration,” he said.
Many of the clinical care centers serving DMD and SMA patients are the same, and using the same data platform reduces the burden on clinical teams to participate in these registries, Furlong said.
“Families with children with Duchenne can go to a healthcare provider and provide informed consent, and their electronic health record will be made available, so that patients and family can push data to that registry,” she said.
Gene therapy offers hope
With the Prometheus RexRegistry platform, clinician-reported data in electronic records can be merged with multiple sources including patient-reported registry data, information from insurance companies, smartphone applications, biosensor information from wearables, and population-level data.
The platform will help Cure SMA and PPMD understand how new therapies are changing outcomes — and provide greater access to those treatments.
The U.S. Food and Drug Administration approved Exondys 51 (eteplirsen) by Sarepta Therapeutics for certain DMD mutations in September 2016 and Biogen‘s Spinraza (nusinersen) for SMA three months later. The agency is also reviewing Zolgensma — a gene therapy developed by Avexis for infants affected by SMA type 1, the most severe and most common form of the disease — with approval expected in May.
“With new treatments, the experience of SMA is rapidly shifting, and healthcare providers need to adapt quickly to these changing needs,” Kenneth Hobby, Cure SMA’s president, said in a press release. “The goal of the SMA Care Center Network is to develop an evidence-based standard of care that will address this changing landscape, expand access to approved SMA treatments, and help accelerate and enhance insurance coverage and reimbursement.”
However, as Furlong notes, “FDA approval is not the end of the journey.”
“Both of our organizations have the same hopes and dreams about changing the outcomes, and we are seeing early signs that gene therapy is going to change the trajectory of their illness,” she said. “The next hurdle is providing access to treatment and reimbursement.”
Robust platforms that combine data from multiple sources provide real-world data the FDA can use to monitor post-market safety, demonstrate a treatment’s efficacy and persuade insurers to provide reimbursement, Furlong said. Biotech industry partners can also use that data to support clinical trials, and it can help expand a treatment to a new population — such as younger children — beyond its initial FDA approval.