Natural History of iPPSD/PHP
In the e-REC survey conducted in August 2020 and March 2021, we identified 39 cases of iPPSD/PHP. According to EuRREB, the number reported cases increased significantly in the following years. Considering this aspect, we believe that his new data would insure a more accurate image of iPPSD incidence. Our iPPSD/PHP specific module was launched in 2021, so we intend to look at the data already collected, to define these patients according to the modules parameters. This analysis will help us better understand the phenotypic variability of iPPSD disorders.
Patients with the same iPPSD disorder might present various clinical signs with different severity and complications. Data collected in EuRREB will help us better understand this group of disorders: data from eREC is important because of the incidence, while information from the disease-specific module will help us characterize each patient in detail. As in the case of all rare diseases, the limited number of participants in scientific studies can be an obstacle in improving knowledge and medical management. Therefore, we are eager to analyze the data reported to EuRREB and, in the same time, to test the feasibility of our iPPSD/PHP specific model.
Objective
Our goal is to improve the medical management of iPPSD/PHP patients by describing the incidence of iPPSD disorders, and analyze genotype-phenotype correlations based on data collected in the specific module.
For publications from this and other study groups, see our publication page.
Members of this Study Group
| Name(s) | Expertise / Role | Organisation |
|---|---|---|
| Lead: Agnès Linglart | pediatric endocrinologist | CHU Paris-Sud – Hôpital de Bicêtre, France |
| Diana Alexandra Ertl | pediatric endocrinologist | CHU Paris-Sud – Hôpital de Bicêtre, France |
| Luisa De Sanctis | pediatric endocrinologist | Regina Margherita Children’s Hospital-Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Italy |
| Giovanna Mantovani | adult endocrinologist | Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico / University of Milan, Italy |
| Ana Priego Zurita | pediatric endocrinologist, EuRREB data quality manager | Leiden University Medical Center, the Netherlands |
For more information regarding the study or if you are interested to contribute to this study, please contact registries@lumc.nl.