Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases

Orphanet J Rare Dis. 2021 Mar 18;16(1):135. doi: 10.1186/s13023-020-01641-z.


Background: Patient involvement in research increases the impact of research and the likelihood of adoption in clinical practice. A first step is to know which research themes are important for patients. We distributed a survey on research priorities to ERN-RND members, both patient representatives and healthcare professionals, asking them to prioritize five research themes for rare neurological diseases on a scale ranging from 1 (most important) to 5 (least important). A follow-up e-mail interview was conducted with patient representatives and professionals to assess potential reasons for differences in opinions between these two groups.

Results: In total, 156 responses were analysed: 61 from professionals and 95 from patient representatives. They covered all ERN-RND disease groups and came from 20 different EU countries. Almost half of the respondents considered 'Developing therapies and preventive strategies' the most important research theme. In particular, patient representatives prioritized this theme more often than professionals, while professionals prioritized 'Disease mechanisms and models'. Patient representatives indicated that therapies and prevention were of the utmost importance to them, because their lives are often heavily impacted by the disease and their main goal is to relief the burden of disease. Professionals indicated that investigating disease mechanisms will lead to more knowledge and is indispensable for finding new treatments.

Conclusions: Patients and professionals have different opinions on which research theme should have priority. A qualitative follow-up shows that they respect each others' view points. Different stakeholders involved in research should be aware of their differences in research theme priority. Explaining these differences to each other leads to more understanding, and could improve patient engagement in research.

Keywords: Patient involvement; Rare diseases; Research themes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Health Personnel*
  • Humans
  • Patient Advocacy*
  • Patient Participation
  • Qualitative Research
  • Rare Diseases / therapy