Italian region launches newborn screening to catch rare disease early

Newborn screening for a rare, life-threatening genetic disease has begun in Italy’s Emilia-Romagna region, creating a chance to identify affected babies before symptoms appear.

The pilot, launched on 12 October, tests for metachromatic leukodystrophy (MLD) using the same few drops of blood already collected from a baby’s heel 48 to 72 hours after birth. No extra blood sample is needed for the initial screening.

MLD progressively damages the nervous system, leading to loss of movement and thinking abilities. For eligible children, gene therapy given before symptoms develop can preserve these functions. The treatment has been available in Italy since 2022, but reaching children early enough remains crucial.

A positive screening result is not a diagnosis: babies need further tests to confirm the condition. Florence’s Meyer hospital will initially analyse samples, while Bologna’s Sant’Orsola hospital will coordinate care for babies who screen positive. Children eligible for gene therapy will be referred to Milan’s San Raffaele hospital.

The project builds on an earlier pilot in Tuscany and campaigning by families and the association Voa Voa! Amici di Sofia. Emilia-Romagna has committed €500,000, with about €28,000 from the association. The launch extends access to early detection, although MLD screening is not yet guaranteed across Italy.