The aim of this working group is to implement in Eurreca the new nomenclature and classification for pseudohypoparathyroidism forms, now known as Inactivating PTH/PTHrP signaling disorders (iPPSD) (Thiele et al 2016) as well as to help better define the reported cases by generating a disease-specific module.
Secondary surveys were conducted at two time-points (August 2020 and March 2021) on data reported in e-REC from July 2018 to August 2020. This survey had the objective to collect a minimal set of routine clinical data for diagnostic quality assurance for cases with iPPSD/PHP conditions in children and in adults, reported on EuRRECa’s e-reporting platform (e-REC).
Disease-specific module: following the secondary survey, the iPPSD/PHP disease-specific module aims to collect baseline and longitudinal data on the reported iPPSD cases. This module is intended for both clinicians and patients. Its scope is to gather information on diagnostic and therapeutic process, as well as patient reported outcomes (PROs). These data will help in the future to better understand the variability of the phenotype and to ensure a more specific, individualized therapy. This module is available in the Core Registry platform for health care professionals caring for iPPSD.