December 17, 2019

IPOPI’s 13th PID Forum launched a Call to action on NBS for Rare Diseases 

IPOPI’s 13th EU PID Forum dedicated to “Newborn screening for rare diseases. A PID perspective” took place on December 4, 2019 at the European Parliament (Brussels, Belgium).
We are glad to have had 4 Members of the European Parliament (MEPs) co-chairing, namely, Dr Manuel Pizarro (Social-Democrats, Portugal), Ms Tilly Metz (Greens, Luxembourg), Ms Irena Joveva (Renew Europe, Slovenia) and Ms Sirpa Pietikainen (European People’s Party, Finland). Dr Tudor Ciuhodaru MEP (Social-Democrats, Romania) actively participated in the meeting.

The meeting set up the scene for a strong political debate on newborn screening for severe combined immunodeficiencies as well as other severe forms of PIDs (such as complete Di George syndrome) and launched a Call to action, highly supported by the MEPs present and by the Forum participants.
The need for the development and implementation of overarching guidelines in the field of newborn screening for rare diseases and the creation of a European newborn screening standing committee was observed. This would facilitate the exchange of best practices and recommendations on newborn screening and allow national decision-makers to better access information and solid evidence from other Member States.

Mrs Martine Pergent, IPOPI’s President, moderated the Forum and gave the floor to the speakers. Dr Pieter Schielen, on behalf of the International Society for Neonatal Screening, and Dr Nizar Mahlaoui, from Necker Hospital and IPOPI’s Chair of the Medical Advisory Panel, presented the challenges of newborn screening as well as the medical aspects involved in the screening of newborns and their diagnostic’s path. Mrs Stela Pirvu, from the Romanian patient organisation (ARPID), and Mr Alberto Casaca, from the Portuguese patient organisation (APDIP), provided the views of the great potential newborn screening can bring to patients with severe forms of primary immunodeficiencies (such as SCID or complete Di George syndrome). In the discussion time, they were also joined by patient representatives from Italy, the Netherlands, Belgium and Slovakia as well as from medical experts leading on newborn screening in their countries, such as Prof Filomeen Haenryck, Prof Philippé and Mrs Buysse, who are working in the advocacy for newborn screening in Belgium.

Newborn screening for rare diseases, using SCID as an example, has been the topic of an EU-wide campaign IPOPI is currently working on in close collaboration with the International Society for Neonatal Screening (ISNS) and the European Society for Primary Immunodeficiencies (ESID). IPOPI is grateful to ISNS representative, Dr Peter Schielen, and to ESID President, Prof Isabelle Meyts, for their presence and contributions to the Forum.

Read the full report of the Forum on IPOPI’s website!

IPOPI would like to thank CSL Behring and Takeda, for their support towards this Forum.