OBJECTIVES: Disease-specific outcomes measures are lacking for type 2 and 3 Gaucher Disease (GD), where neurological signs are present (nGD). GD is a rare genetic metabolic disorder; treatment aims to manage symptoms, prevent irreversible damage, and improve quality of life. To collaborate with patients and caregivers to develop nGD-specific patient- and observer-reported outcomes (PRO and ObsRO) measures focusing on symptoms and health-related quality of life.

METHODS: Clinical experts, 7 parents and 3 patients from three countries consulted on key outcomes to include in draft PRO and ObsRO measures. Cognitive interviews with patients (>12 years of age) (N=5) and caregivers (N=9) where trained interviewers conducted telephone interviews to obtain feedback on the draft PRO and ObsRO measures, which were shared on a screen-sharing platform. Based on the feedback on the English measures from UK and US participants, the English versions were revised and underwent translation by two independent native speakers and finalization via a reconciliation meeting and underwent cognitive testing in target countries.

RESULTS: The nGD-PRO and nGD-ObsRO measure the burden of disease, symptoms, physical functioning, self-care, feelings, daily and social activities, health and travel concerns, overall health, and impact on caregivers. Nine caregivers and six patients from the US, UK, China, Mexico, Egypt, and Japan participated in the interviews. The cognitive interviews informed key revisions to ensure that all items are understandable and interpreted as intended. Final versions of the nGD-PRO and nGD-ObsRO are available in English, French, German, Spanish, Arabic, Japanese and Chinese.

CONCLUSIONS: This collaboration among a full set of stakeholders resulted in nGD-PRO and nGD-ObsRO instruments that are content valid and expected to be robust measurements of disease impact. The psychometric validation will be nested within the Gaucher Registry for Development Innovation and Analysis of Neuronopathic Disease (GARDIAN), a global, prospective patient registry.