Feasibility of transition research in pituitary disease using patient registries: a EuRREB secondary survey

Rare disease registries focusing on natural history provide an opportunity to understand the transition process for rare endocrine conditions, including pituitary diseases. This study aims to assess the feasibility of using the European Registry for Rare Endocrine & Bone Conditions (EuRREB) for transition research in pituitary disease and to establish basic clinical characteristics of transition-age pituitary patients managed at reference centers (RCs) within the European Reference Network for Rare Endocrine Conditions (Endo-ERN).

Patients in the Core Registry of EuRREB aged between 14 and 24 years with a pituitary diagnosis were eligible for inclusion. Physicians were asked to fill out a secondary survey evaluating transition aspects. Descriptive statistics and non-parametric analysis (Kruskal-Wallis, Mann-Whitney) were used.

Of 106 eligible patients, 98 patients had a confirmed diagnosis. Secondary survey data were available for 79 patients (74%) across 6 RCs from 5 countries. 72/79 patients (91%) remained in active care, with a single patient lost or discharged from follow-up (each n = 1, 1.3%). 29/79 (36.7%) were already transferred to adult care. Transfer typically occurred at age 18 years and in a few patients up to 22 years. A documented transfer plan was reported for 11 patients (13.9%). Patient-reported outcomes were collected in ten patients (13.5%). Transition challenges were either care-related or patient-related.

This study provides initial characterization of transition of care in rare pituitary diseases in Endo-ERN RCs, showing high follow-up but inconsistent use of plans, patient-reported outcome measures (PROMs), and documentation. Rare disease registries can act as a tool to understand the process and identify barriers.