Rare diseases are diseases which have a low prevalence. This can impact development of new treatments in a number of ways by having less knowledge about the science of individual diseases, less understanding and expertise within the medical community and less information on how diseases can affect individual patients. However, the impact of a rare disease on patients and their families in very significant, often includes a long and difficult process of getting a diagnosis and unfortunately there are not yet medicines for every rare disease. The development of medicines for rare diseases is something that many pharmaceutical physicians are working on with much of the pharmaceutical industry pipeline being orphan drugs1.
As part of FPMs commitment to advancing pharmaceutical medicine, we hosted an event on Patient Engagement and Access in rare disease and gene therapy with speakers giving perspectives of patients, clinical researchers, industry and research charities, and sharing best practice for those working in pharmaceutical medicine in rare diseases and gene therapy.
This blog summarises the key top tips with regards to
- patient involvement and engagement – when to do this, how to do this, what’s different about rare disease
- industry collaboration – when, how, what’s different about rare disease
- access to medicines – are patients getting access to the medicines they need
Early Patient Involvement is important. The perspective of patients on their disease and their experience of being involved in research is critical to developing clinical trial protocols that are going to give meaningful answers. It’s important to get involvement early on clinical trial protocols and patient information. There are existing resources, such as EURODIS which can be used as a starting pointii.
Be aware of the burden of trial procedures and travel for participants and their carers. Consider a concierge service.
Be critical of the robustness of the endpoints to be measured in a trial. Consider what is meaningful for patients. Consider whether the endpoints you are considering would be robust to changes in current disease status and will not be affected by issues relating to the trial setting such as mood or levels of fatigue. Review whether endpoints can be measured at home instead of the trial site.
Develop links with clinical care. Applications of this can be to develop processes for sharing data and avoiding repeating tests, as well as educating the clinical team on the trial.
Build successful relationships between industry and patient organisations by understanding and explaining the boundaries of the discussions. Clarity from the outset will prevent frustration and misunderstandings down the line. Collaboration early in a project is key in order for the interaction to be meaningful.
Access to rare disease medicines should be considered from a global perspective and early on in the drug development lifecycle. Work is ongoing to enable sharing of key resources across companies such as project Hercules in DMDiii. Any individual requests for investigational medicines should be considered carefully, including from a long-term supply commitment and from a patient support and monitoring perspective.
A number of challenges remain in developing gene therapies and medicines for rare diseases. These include ensuring patients have access to innovative therapies, having harmonised approaches to early and timely diagnosis (e.g. newborn screening), having alignment on the value of measures of patient experience within clinical development and having regulatory procedures which support medicine development.
FPM and the FPM Rare Disease Expert group will continue to advocate for rare disease patients and community and support education and policy work on these issues. If you’re interested in joining, please contact email@example.com.
1 IQVIA EFPIA Pipeline Review 2021 https://efpia.eu/media/602564/iqvia_efpia_pipeline-review_final.pdf
2 EURODIS [accessed August 2022] https://www.eurordis.org/
3 Project Hercules [accessed August 2022] https://hercules.duchenneuk.org/