Author(s): Elizabeth Clearfield, MHS, Center for Medical Technology Policy; Ellen M. Janssen, PhD, Center for Medical Technology Policy; Mark W. Skinner, JD, Institute for Policy Advancement, Ltd.; Michelle Witkop, DNP, FNP-BC, National Hemophilia Foundation; Hsing-Yuan (Susan) Chang, MD, MPH, Center for Medical Technology Policy; Susan Reed, MA, Center for Medical Technology Policy

Research Category: Quality of Life/Outcomes Research

Description:

Objective:

The multi-stakeholder coreHEM initiative resulted in a core outcome set for hemophilia gene therapies which included a novel mental health outlook outcome. coreHEM Mental Health builds on this work and will develop an English-language, content-validated patient-reported outcome measure (PROM) designed to measure mental health outlook in people with hemophilia (PWH) treated with gene therapy. While PROM development and validation may take several years, clinical trials for gene therapy are ongoing and there is an immediate need to identify the existing instruments that can measure mental health related to hemophilia. As a first step in PROM development, we develop a conceptual framework to describe mental health outlook in PWH, determine which measures are currently used to assess mental health outlook and its domains, and identify gaps in existing measures.

Methods:

A targeted literature review of qualitative and quantitative studies was conducted to identify PROMsused to measure mental health outlook in PWH. Currently-available validated hemophilia-specific quality of life (QoL) instruments will be mapped to the conceptual framework to assess whether identified domains can be measured with existing PROMs.

Summary:

The domains identified in the literature review were used to develop a draft conceptual framework for the mental health outlook outcome. Mapping domains and items from currently-available instruments will help to highlight gaps in currently-available measures to measure mental health in PWH. The coreHEM PROM will seek to fill these gaps and measure mental health outlook wholly and succinctly in the context of gene therapy.

Conclusion:

Gene therapy has the potential to greatly impact the mental health outlook of PWH. While the mental health implications of hemophilia are recognized, no measures currently address the unique impact of gene therapy on the mental health of PWH. The conceptual framework will be further refined based on concept elicitation interviews with PWH. The final coreHEM Mental Health PROM will be suitable to gain additional insight into the impact of hemophilia gene therapy on the mental health outlook of PWH.