Objective: Patient reported outcomes like “Health-Related Quality of Life” are one of the key outcome parameters of clinical studies. The aim of this project within the German “TreatHSP” consortium is to develop patient and caregiver reported outcomes (PROs and ObsROs) specific for hereditary spastic paraplegia (HSP).

Background: Hereditary spastic paraplegia (HSP) is a group of genetic neurodegenerative diseases. Currently >80 different genetic forms are known. Clinical presentation of HSP is highly heterogeneous as well. Nevertheless, the leading symptom includes a spastic gait disorder caused by degeneration of the pyramidal tract. The worldwide prevalence is 1-9:100 000, making it a rare disease.  The “Spastic paraplegia rating scale” (SPRS) is being broadly used as a validated clinical outcome parameter.  However, this scale does not provide any information about the health-related quality of life (HRQoL) of HSP patients.  In our opinion, the HRQoL is an integral component for the assessment of trial readiness, future treatment studies and follow-up visits.

Method: In the current study PROs and ObsROs will be developed by a three-step approach with first qualitative patient interviews to generate specific items, followed by a pilot testing and then validation in a larger patient sample. Semi-structured guided interviews were conducted on 36 patients and 18 caregivers. In order to ensure that patients with different degrees of disease severity are represented, they were classified and selected according to SPRS as “mildly” (SPRS <15 points), “moderately” (SPRS 16 – 30 points) and “severely” affected (SPRS>31 points). The interviews were subsequently analyzed using a commercially available software for qualitative and mixed methods research.

Results: The pilot HRQoL questionnaires for HSP patients and their caregivers with 34 items each, involving 8 domains of daily life, were developed based on the collected data. The first samples of 65 patients and 57 caregivers are currently undergoing statistical analyses (first-step validation). Depending on the results, items will be adjusted, if necessary. This will be followed by validation on a larger sample of at least 300 patients and their caregivers.

Conclusion: A specific HRQoL questionnaire is an unmet need for HSP. It will be an indispensable component for the future qualitative high standard clinical trials and the natural course of HSP.

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