JMIR Publications

ABSTRACT

Background:

Multi-organ autoimmunity belong a group of ultra-rare diseases characterised by complex autoimmune or auto-inflammatory processes affecting multiple organs. In addition to adequate medical care for patients with multi-organ autoimmunity the understanding of patients' treatment preferences and the measurement of their health-related quality of life is essential for improving the therapy for respective patients.

Objective:

This study pursues three goals: first, the compilation of a modular questionnaire package of established instruments to assess health-related quality of life and health status; second, the participatory development and psychometric testing of a new self-report questionnaire to assess patients’ treatment preferences; and third, to assess quality of life and patients’ preferences in a longitudinal study.

Methods:

To address our goals, we are conducting a mixed-methods study involving 300 adult patients in ongoing treatment with multi-organ autoimmune diseases comprising qualitative interviews with patients and their physicians and a quantitative longitudinal study with 4 measurement time points (at study enrolment, 3, 6, and 9 months later). We will address our first goal by conducting psychometric analyses to assess the applicability of the modularised questionnaire package to our target population. We will determine item characteristics and conduct exploratory factor analyses and internal consistency analyses with the scales used to assess generic (SF-12, FACIT-Fatigue) and disease-specific quality of life (CAT, SIBDQ, DLQI and XSMFA), as well as disease-specific health status (EQ-5D). To address our second goal, we conduct 1) qualitative interviews with patients and with their physicians to explore the preferences of our target population, 2) a two-round Delphi study to select preferences that are highly relevant to most patients, 3) cognitive pre-tests to ensure the acceptability and comprehensibility of the scale items and instructions, and 4) psychometric analyses to guide item selection and evaluate the reliability and validity of the final scales.

Results:

This paper describes and discusses the protocol for the longitudinal cohort Qualy-GAIN study. The study is conducted between January 2023 and December 2025, with data collection at four measurement points from July 2024 to June 2025. First results are expected to be submitted for publication in spring 2026.

Conclusions:

A result of this study should be a package of questionnaires that can be used to assess health-related quality of life, disease-specific health status and treatment preferences. Due to the voluntary nature of participation and the low burden associated with participation, we believe that the benefits of the study outweigh potential risks. In case the questionnaires evaluated in this study prove to be reliable, valid and useful in practice, they can be transferred to the routine treatment of patients with multi-organ autoimmune diseases in order to improve their treatment and promote patient-centred care. Clinical Trial: German Clinical Trials Register (DRKS): DRKS00033609 (26 June 2024), Universal Trial Number (UTN): U1111-1309-8703