Objective: The aim of this project is to develop and validate a health-related quality-of-life (HR-QoL) questionnaire, in a patient and a caregiver version, specific for hereditary spastic paraplegia (HSP). The questionnaire should be applicable in both research and clinical practice as a standardized patient-reported outcome measure (PROM).

Background: HSP is a group of rare genetic diseases, mainly characterised by lower limb weakness and spasticity due to degeneration of the corticospinal tract. The “Spastic paraplegia rating scale” (SPRS) is being broadly used as a validated clinical outcome parameter. However, to quantify the disease impact on patients’ daily lives and to measure treatment effectiveness from patients’ perspective, PROMs are also necessary. A validated PROM specific to HSP does not exist yet.

Method: Semi-structured guided interviews were conducted with 36 patients with different disease severities according to the SPRS and 18 caregivers. Based on qualitative data analysis pilot questionnaires were developed and sent to 91 HSP-households. After pilot-item analysis modified questionnaires were forwarded to HSP patients organizations for main validation. To confirm reliability, the questionnaires were resent two weeks later. To confirm specificity for HSP, correlation to EQ-5D-5L was examined. Exploratory factor analysis (EFA) was conducted to reveal the underlying structure.

Results: The pilot-questionnaires contained 45 items each. The first validation was conducted on the responses of 65 patients and 57 caregivers and led to the improved questionnaires with 28 Items each. The main validation was performed on 237 patient und 55 caregiver responses. After EFA 25 items in 5 domains remained. Statistical results were resilient with Cronbach’s alpha > 0.8 and test-retest correlation > 0.8. The correlation to EQ-5D-5L was 0.49. The correlation between patients’ and their caregivers’ responses was 0.75.

Conclusion: High response rates of the pilot questionnaires as well as large number of patient responses in the main validation study underline the importance of the HR-QoL-assessment. The questionnaire will be an integral component for future clinical trials, natural course studies and follow-up visits in clinical practice.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/development-of-a-health-related-quality-of-life-hr-qol-questionnaire-for-hereditary-spastic-paraplegia-hsp-patients-and-caregivers/