Rare Diseases and Orphan Drugs

Biography

Biography: Stella Blackburn

Abstract

Patients with life-limiting diseases and few or no treatment options want early access to medicines which show potential benefits. At the same time, regulators want reassurance that the potential benefits outweigh the potential risks; that the risks can be managed effectively and that comprehensive evidence will be provided. Getting a balance between these two stakeholders needs can be difficult. This can be compounded by the needs of payers who want evidence of cost-effectiveness. In the context of a rare disease, developing comprehensive evidence for all stakeholders is even more difficult when patients may be relatively scarce. In Europe, the European Medicines Agency (EMA) developed Adaptive Pathways as a means whereby a medicine could receive an initial authorization in a niche indication with a condition that development work would continue and that real world evidence would be gathered by close monitoring of patients receiving the marketed medicine. Regulators, HTA bodies, patients and healthcare practitioners are involved in the development discussions. Access to patients beyond those with most need would be gradually expanded as more evidence became available with the expectation that a “normal” marketing authorization would be achieved. This concept of using a combination of real world evidence along with clinical trials to optimize drug development is being further developed by the Center for Biomedical Innovation, part of the Massachusetts Institute of Technology. The purpose of this presentation is to explain the Adaptive Pathways concept and the multinational discussions which led to it and how early use of real world evidence can help drug development; particularly in the rare disease field. In particular, it will explore the use of disease registries as a means of speeding up trials, providing invaluable information on the natural history of the disease and monitoring patients in the post-approval setting.