Rare disease communities most affected
Lack of access to huge amounts of data is hampering drug development for rare diseases and stifling innovation. Proprietary ownership of data silos is fragmenting the expanding knowledge base, leading to researchers not being able to access information that exists but is not available to them in many cases.
Uncoordinated studies collecting redundant data in parallel is delaying or denying potential treatments for some diseases, and wasting time and energy and resources in the process. The NIH and FDA in the US are working to address these issues, however much more needs to be done.
Data silos are proliferating while research and development activity explode following genetic and immunological advances for many clinically described disorders with previously unknown etiologies. The latter event has inspired optimism in the patient, clinical, and research communities that disease-specific treatments are on the way.
However, we fear the tendency of various stakeholders to balkanize databases in proprietary formats, driven by current economic and academic incentives, will inevitably fragment the expanding knowledge base and undermine current and future research efforts to develop much-needed treatments. The proliferation of proprietary databases, compounded by a paucity of meaningful outcome measures and/or good natural history data, slows our ability to generate scalable solutions to benefit chronically under-served patient populations in ways that would translate to more common diseases.
The current research and development landscape sets too many projects up for unnecessary failure, particularly in the rare disease sphere, and does a grave disservice to highly vulnerable patients. This system also encourages the collection of redundant data in uncoordinated parallel studies and registries to ultimately delay or deny potential treatments for ostensibly tractable diseases; it also promotes the waste of precious time, energy, and resources.
Groups at the National Institutes of Health and Food and Drug Administration have started programs to address these issues. However, we and many others feel there should be significantly more discussion of how to coordinate and scale registry efforts. Such discourse aims to reduce needless complexity and duplication of efforts, as well as promote a pre-competitive knowledge ecosystem for rare disease drug development that cultivates and accelerates innovation.
SOURCE: Orphanet J Rare Dis. 2021 Apr 7;16(1):161. doi: 10.1186/s13023-021-01806-4. PMID: 33827602
Data silos are undermining drug development and failing rare disease patients
1. Gene Therapy Program, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
2. Department of Medicine, Orphan Disease Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
3. Clinical Innovation Partners, New York, NY, USA.
4. Syapse, San Francisco, CA, USA.
5. Bios Ventures, San Francisco, CA, USA.
6. Neurogene Inc., New York, NY, USA.
7. Amicus Therapeutics, Philadelphia, PA, 19104, USA.
8. Department of Medicine, Orphan Disease Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
9. Departments of Neurology and Pediatrics, Children’s Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
10. Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, 19104, USA.