A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative

Orphanet Journal of Rare Diseases

Research

Elin Haf Davies¹  Kathleen Beusterien²  Dena H. Jaffe²  Shoshana Revel-Vilk³  Madeline Stoodley⁴  Tanya Collin-Histed⁵  Deborah Elstein⁶ 

[1]Aparito, 11-12 Gwenfro Technology Park, Croesnewydd Road, Wrexham, UK

[2]Cerner Enviza, an Oracle Company, 51 Valley Stream Pkwy, 19355, Malvern, PA, USA

[3]Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel

[4]Faculty of Medicine, Hebrew University, Jerusalem, Israel

[5]International Gaucher Alliance (IGA), 86-90 Paul Street, EC2A 4NE, London, UK

[6]International Gaucher Alliance (IGA), 86-90 Paul Street, EC2A 4NE, London, UK

[7]International Gaucher Alliance, 86-90 Paul Street, EC2A 4NE, London, UK

[8]Jerusalem, Israel

关键词: Registry;    Rare disease;    Neuronopathic gaucher disease;    GARDIAN;    Patient-reported outcomes;    Observer-reported outcomes;    PRO;    ObsRO;   

DOI  :  10.1186/s13023-023-02828-w

 received in 2022-12-04, accepted in 2023-07-11,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundGaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder. GD types 2 and 3 are known as neuronopathic Gaucher disease (nGD) because they have brain involvement that progresses over time. Implementing a systematic approach to the collection of real-world clinical and patient-relevant outcomes data in nGD presents an opportunity to fill critical knowledge gaps and ultimately help healthcare providers in the management of this patient population. This paper summarizes the development of a patient-initiated Gaucher Registry for Development Innovation and Analysis of Neuronopathic Disease (GARDIAN).MethodsThe International Gaucher Alliance led the GARDIAN planning, including governance, scope, stakeholder involvement, platform, and reporting. Registry element input was determined in a series of meetings with clinical experts, patients, and caregivers, who identified key clinical variables and the draft content of nGD patient-reported outcomes (PRO) and observer-reported outcomes (ObsRO) focusing on symptoms, patient physical and emotional functioning. These were then tested in cognitive interviews with patients with nGD (> 12 years of age) and caregivers.ResultsCore registry data elements (n = 138) were identified by seven global clinical experts from Egypt, Germany, Israel, Japan, United Kingdom (UK), and United State (US) and reviewed via online Delphi method by 14 additional clinicians with experience of nGD from six countries and three pharmaceutical representatives. The elements were consistent with those identified via interviews with 10 patients/caregivers with nGD from Japan, Sweden, UK, and US. Key domains identified were demographics, diagnostic information, health status, clinical symptomatology, laboratory testing, treatment, healthcare resource utilization, aids/home improvements, and patient/caregiver burden and quality of life, specifically physical functioning, self-care, daily and social activities, emotional impacts, support services, and caregiver-specific impacts. Nine caregivers and six patients from the US, UK, China, Mexico, Egypt, and Japan participated in the cognitive interviews that informed revisions to ensure that all items are understandable and interpreted as intended.ConclusionsThe comprehensive set of clinical and patient relevant outcomes data, developed collaboratively among all stakeholders, to be reported using GARDIAN will bridge the many gaps in the understanding of nGD and align with regulatory frameworks on real-world data needs.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

Fig. 2