OBJECTIVES:

Gaucher Disease (GD) is a rare inherited metabolic disorder. Type 2 and Type 3 are neuronopathic and often result in infant death or progressive neurological deterioration. Current drug therapies do not cross the blood brain barrier and thus do not treat neuronopathic GD (nGD). GARDIAN data will generate real-world evidence on the natural history and impact of disease and will inform clinical trial design and healthcare decision making. The objective is to describe the development of a patient registry specific to nGD.

METHODS:

The International Gaucher Alliance, patients, caregivers, clinicians, and researchers partnered to develop a web-based platform for patients with nGD and their caregivers. Baseline and follow-up questionnaires were designed to capture data relevant to patients, including newly developed nGD-specific Patient Reported Outcome (nGD-PRO) and Observer Reported Outcome (nGD-ObsRO) instruments to be validated within the registry. Qualitative interviews were conducted to ensure the use of terminology relevant to patients. Diagnosis confirmation processes were informed by clinicians.

RESULTS:

The patient-initiated Gaucher Registry for Development Innovation and Analysis of Neuronopathic Disease (GARDIAN) used stakeholder-identified objectives. It was designed as a worldwide, prospective patient registry available in English, French, German, Spanish, Arabic, Japanese and Chinese. Data collection timepoints are at baseline and every 6 months for 3 years, and include patient-reported enzyme/genetic results, patient characteristics, symptoms, medical history, treatment, and comorbidities. Patient- and caregiver-reported outcomes include the PedsQL, PGI-S, GAD-7, PHQ-9 and the nGD-PRO/nGD-ObsRO. GARDIAN was approved by institutional review boards. Patient enrollment began in April 2022.

CONCLUSIONS:

The systematic and standardized collection of real-world data will provide a research platform for improving disease understanding, advancing disease management, designing treatments, and improving patient outcomes. Patient engagement in the development of GARDIAN optimizes its value as a real-world data source to inform healthcare decisions and address the unmet needs of patients.