Data Sharing Key to Advancing Gene-Targeted Therapies for Rare Diseases

A traditional, siloed approach has hampered the development of gene-targeted therapies for rare diseases. The need for a more collaborative approach was discussed at a 3-day virtual meeting hosted in 2021 by the National Institutes of Health, reported a commentary piece published in the American Journal of Medical Genetics.

Roundtable talks that included patients, clinicians, researchers, and representatives from government agencies tackled broad questions, among them, “What novel approaches are needed to enable development of gene-targeted therapies for all rare genetic diseases — now and in the future?”

Data integration, such as focused global patient registries, was a common theme.

“Building robust data sharing systems will speed drug discovery, optimize trial design and execution, and enable long term follow-up of treated patients to assure unbiased assessments by all stakeholders of the relative efficacy and safety of new treatments,” wrote corresponding author Julie Lekstrom-Himes of Takeda, Cambridge, Massachusetts, and coauthors of the commentary.

Focusing on a handful of rare disease areas that could serve as pilots would be a good place to start, the authors explained. The public and private sectors could share funding responsibilities, and a clearly defined group of stakeholders, including governments, academics, patient groups, pharmaceutical companies, philanthropies, and payers, could be involved.

“Starting with several pilot disease areas, and working with those who have solved some of these problems on the larger scale, would start us down the path to more rapid and efficient development of gene-targeted therapies for the millions of people living with rare diseases,” the authors wrote.

Reference

Lekstrom-Himes J, Augustine EF, Brower A, et al. Data sharing to advance gene-targeted therapies in rare diseases. Am J Med Genet C Semin Med Genet. 2023;193(1):87-98. doi: 10.1002/ajmg.c.32028