Introduction
This research project builds upon the work of the IRDiRC Working Group on Goal 3 who produced a framework of the patient journey identifying key areas for developing methodologies to assess the impact of diagnoses and therapies on rare disease patients and families. While there are some studies on the impacts of living with a rare disease and some that chronicle the natural history, there has been relatively little research measuring the impacts of “diagnosis/no diagnosis/misdiagnosis” as well as “availability/no availability” of therapeutic interventions and their efficacy.
Objectives
The objectives of this Task Force are to (1) Develop, operationalize, and test a comprehensive framework of holistic, multidimensional, and evolving life-long experiences of patients and families living with a rare disease; (2) Develop, operationalize, and validate multidimensional indicators and measures (qualitative and quantitative) of impacts associated with diagnosis, treatment, support, and community integration that can be used to capture changes along the patient “journey”; and (3) Investigate qualitative case studies to represent a number of parameters that could inform on impacts.
Timeline
- Assembly of the Task Force Group in Q1, 2023
Members
The PACC is specifically looking for members to populate the Task Force with the below expertise in one or more of the following areas:
- Patient representatives from international groups
- Industry representatives
- Social scientists
- Health economists
- Clinicians / Researchers