SIMPATHIC: A generic core Patient-Reported Outcome set for individuals with rare neurologic, neurometabolic, and neuromuscular disorders.

Abstract

SIMPATHIC: This project has received funding from the Horizon Europe research and innovation program under grant agreement No 101080249.

Introduction

Drug repurposing is a key strategy in the development of therapies for individuals with rare diseases who often lack therapeutic options. The ‘SIMilarities in clinical and molecular PATHology International Consortium’ (SIMPATHIC) moves away from the one-disease-one-drug paradigm and proposes to let larger groups of individuals with rare neurological, neurometabolic and neuromuscular disorders (neuro-RDs) benefit from existing medicines.

To gain insight into the drug repurposing treatment effects, it is essential to measure relevant Patient-Reported Outcomes (PROs). However, currently various PROs are measured and involvement of the patient perspective regarding the choice of outcomes is scarce. Given the shared comorbidities across the different neuro-RDs in SIMPATHIC, we aim to identify the most relevant generic PROs for individuals with neuro-RDs, resulting in a generic core PRO set.

Methods & Results

Developing the generic core PRO set involves the following steps: 1) Providing an overview of potentially relevant PROs by a scoping review and by conducting focus groups and interviews with patients and clinicians. 2) Incorporating and conceptualizing the identified PROs (i.e. classify and describing the PROs in a framework) into a pilot generic core PRO set. 3) Prioritizing relevant PROs by using a Delphi survey and consensus meetings to reach the definite generic core PRO set. Supplemented with disease-specific PROs (usually at the symptom level) to accurately measure the full spectrum of important outcome measures.

Results on the first step will be presented at the conference.

Conclusion

The protocol presents the steps for identifying a generic core PRO set for individuals with neuro-RDs. By understanding patients and clinicians experiences, we can identify the unmet needs and pinpoint the areas for improve.