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P146 Patient engagement in rare disease research: a new paradigm
  1. JF Roze1,
  2. GM Monroe1,
  3. JW Groeneweg1,
  4. I Fransen2,
  5. RHM Verheijen1 and
  6. RP Zweemer1
  1. 1Department of Gynaecological Oncology, UMC Utrecht Cancer Center, University Medical Center Utrecht, Utrecht University
  2. 2Member of Dutch and International Granulosa Cell Tumour Patient Organization, Utrecht University, Utrecht, The Netherlands


Introduction/Background Currently, researchers seem to aim for high impact scientific articles rather than research that is directly beneficial to patients. Patient engagement is therefore an increasingly relevant topic. Grant donors also focus on the translation of a scientific benchside discovery to the patient bedside. However, patients are mostly involved solely at study initiation but ideally should participate throughout the research process. Also, investigators often do not report back the results to the patients. Here, we aim to illustrate successful patient engagement in a Dutch multi-center study on a rare disease: granulosa cell tumours (GCTs) of the ovary.

Methodology GCTs are neglected and often not included in ovarian cancer research due to their rarity and distinct behaviour. A patient‘s family initiated a fund to increase awareness and ultimately improve treatment, as it can be challenging to receive regular funding for rare diseases. Her particular experiences helped identifying the challenges that GCT patients face and determined the knowledge gaps. This resulted in patient engagement from the beginning. Additionally, we joined group meetings and informed patients through newsletters, explaining the current state of the research and giving them the possibility to directly ask the research team questions and brainstorm on future directions.

Results A national, multi-center study was conducted and included 51 patients within a year. This comprises three times the yearly incidence (17–20 cases) of this rare disease in our country. This success is due to successful engagement of patients and their gynaecological-oncologists. Contact with the patient‘s organization guided future research directions and raised novel research questions. For example, two members who appeared to be distant relatives initiated a project on hereditary factors in these patients.

Conclusion Patient engagement is crucial in research as it benefits both patients and researchers. Involvement facilitates patient enrollment and study publicity while also focusing on research that directly benefits patients.

Disclosure No competing interests. Applicable funding sources: Granulosafonds Philine van Esch.

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