The IReg-PIK3CA study is an observational, multicentre, retrospective and prospective, national study.
The study is being co-sponsored by the Department of Paediatric and Public Health Sciences of the University of Turin and the Italian Macrodactyly and PROS Association (AIMP) APS, a not-for-profit organization, with the aim of collecting longitudinal genetic and clinical data (patient history and follow-up data) of people with PIK3CA-related conditions.
Membri del Comitato Scientifico
The retrospective and prospective collection of clinical data by means of a computerised registry (IReg-PIK3CA Registry) to:
Patients with a clinical picture that is not compatible with points a) or b) of the inclusion criteria, in the Investigator’s judgement.
Table 1. Clinical Diagnostic Criteria for PIK3CA-Related Overgrowth Spectrum (PROS)
Diagram 1: The three groups of conditions related to the PIK3CA gene mutation: PROS (overgrowth disorders), vascular malformations and nonvascular lesions.
Privacy of data
Right from its initial design, the study has included tools and related settings to ensure data protection (privacy by design) and will only process personal data to the extent that is necessary and sufficient for the intended purposes and for the period strictly necessary for such purposes (privacy by default).
The data, in particular personal, health and genetic data, and only to the extent that they are essential for the objectives of the study, will be processed in compliance with EU Regulation 2016/679, known as the GDPR (General Data Protection Regulation), Legislative Decree no. 101 of 10 August 2018 and the Decision no. 146 of 5 June 2019 of the Italian Data Protection Authority concerning prescriptions for the processing of special categories of data.
Moreover, participants will be assigned an identification code automatically generated by data collection software, which will be used in the demographics form of the Registry and in all subsequently-completed forms that contain clinical data about a specific participant.
The Registry will therefore only include pseudonymised data.
Publications and reports
There are currently no publications or reports available for this study.
To request data from the IReg-PIK3CA Registry, please complete the specific data request form, which can be downloaded from the link below together with the guidelines for data requests, and send it to the following address:
For further information about the study, please contact the Scientific Committee of the study, by sending an email to: