Drug development for rare diseases is challenged by small populations and limited data. This makes development of clinical trial protocols difficult and contributes to the uncertainty around whether or not a potential therapy is efficacious. The use of data standards to aggregate data from multiple sources, and the use of such integrated databases to develop statistical models can inform protocol development and reduce the risks in developing new therapies. Achieving regulatory endorsement of such models through defined pathways at the US Food and Drug Administration and European Medicines Authority allows such tools to be used by the drug development community for defined contexts of use without further need for discussion of the underlying model(s). The Duchenne Regulatory Science Consortium (D-RSC) has brought together multiple stakeholders to develop a clinical trial simulation tool for Duchenne muscular dystrophy using such an approach. Here we describe the work of D-RSC as an example of how such an approach may be effective at reducing uncertainty in drug development for rare diseases, and thus bringing effective therapies to patients faster.
Bibliographical noteFunding Information:
We would like to thank the members of the D-RSC consortium who have funded and participated in this project. We would also like to thank those who have contributed data to the project and made these analyses possible, in particular the CINRG Investigators for the CINRG DNHS study, and the Imaging-DMD consortium. KRA is partially supported as a UK National Institute for Health Research (NIHR) Senior Investigator Emeritus (NI-SI-0512-10159). MH received funding from Project HERCULES, which is funded by Duchenne UK. KRA and MC were partially supported by Project HERCULES. Critical Path Institute is supported in part by Grant No. 5U18FD005320 from the Food and Drug Administration.
- Drug development tools
- Duchenne muscular dystrophy consortium (D-RSC)
- Model-informed drug development
- Rare diseases
- Regulatory endorsement