Rare Obesity

Members

Erica van den Akker	Erasmus MC-Sophia Children’s Hospital, Rotterdam, NL
Guftar Shaikh	Royal Hospital for Children, Glasgow, UK
Hoong-Wei Gan	Great Ormond Street Hospital Institute of Child Health, London, UK

Obectives

To develop diagnosis specific datasets for conditions within the rare genetic obesity disorders.  

Activities

Surveys

Reporters registering genetic obesity on the e-REC platform were contacted  to collect a minimal set of routine clinical data for diagnostic quality assurance via a secondary survey. The results were presented at the ESPE 2021 online meeting. Please find the abstract here.

Reporters registering confirmed or suspected COVID-19 cases in rare genetic obesity conditions on the e-REC platform were contacted  to study the clinical course of COVID-19 infection in these patients via a secondary survey. The results were presented at the ESPE 2022 meeting in Rome. Please find the abstract here.

Disease-specific module

The study group developed a dataset based on the information gathered by the surveys and the MTG5 on Growth and Obesity expertise. The dataset, built in the EuRRECa Core Registry platform as an online module, is available since November 2022 and open to all reporters registering cases of syndromic and non-syndromic genetic obesity.