The challenges of rare disease publication planning

In the field of rare diseases, the publication and effective dissemination of new research is vital. This can, however, be challenging due to unconventional data generation and difficulties with effective delivery to target audiences, which include not only fellow researchers but also patients themselves. Strategic publication planning in rare diseases may therefore require a different approach to the norm. In a recent article for the MAP newsletter from the International Society of Medical Publications Professionals (ISMPP), Eleanor Thurtle, Annabel Griffiths and Danielle Sheard (Costello Medical, Cambridge, UK) present a flow chart to aid the process. Key considerations are:

1. Establish data availability – accelerated regulatory approval can impact timeframes and early data availability may be required. Communication points must be carefully selected as new results can dramatically change the landscape.
2. Establish knowledge gaps – gap analyses can optimise the impact of results on current understanding.
3. Think outside the box – small patient numbers can mean that single-arm and case studies are more appropriate forms of publication.
4. Consider alternative data analyses – less common statistical methodologies may need to be used due to small data sets, which can be more difficult to convey effectively.
5. Establish consensus on disease management – treatment guidelines may not be available for rare diseases, so it is important to garner clinical opinion.
6. Consider integrated data disclosure planning – patient identification can be a concern due to small patient populations and combined data disclosure may aid anonymity.
7. Maximise patient access – open access, plain language, lay summaries and social media can all be explored as ways of effectively reaching the patient.

The European Medicines Agency estimate that approximately 30 million individuals in Europe live with a rare disease and that “medical and scientific knowledge about rare diseases is lacking”, highlighting the importance of ‘getting it right’ when it comes to publishing such work.

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Summary by Jo Chapman PhD from Aspire Scientific

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