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NBS for Duchenne muscular dystrophy (DMD) has been a controversial matter for many years, because of false positives, the lack of effective drugs and the need of more data about screening efficacy. The still high diagnostic delay of DMD and the current availability of drugs such as steroid, ataluren, eteplirsen, golodirsen and forthcoming new drugs, improving the clinical conditions if early started, make appropriate to begin a concrete discussion between stakeholders to identify best practice for DMD screening. A two-step system CK\/DNA screening programme is presented to be performed in male infants aged between 6\u00a0months and 42\u00a0months involving more than 30,000 male infants. Five to eight DMD subjects are believed to be diagnosed. The pilot project would give the opportunity to test in a small population the feasibility of an infant screening programme, which in the near future could be applicable to an entire country.<\/jats:p>","DOI":"10.1007\/s10072-020-04307-7","type":"journal-article","created":{"date-parts":[[2020,10,28]],"date-time":"2020-10-28T13:03:05Z","timestamp":1603890185000},"page":"1677-1683","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Is it the right time for an infant screening for Duchenne muscular dystrophy?"],"prefix":"10.1007","volume":"41","author":[{"given":"Gian Luca","family":"Vita","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5204-7826","authenticated-orcid":false,"given":"Giuseppe","family":"Vita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,2,28]]},"reference":[{"key":"4307_CR1","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1002\/jimd.12102","volume":"42","author":"EA Jager","year":"2019","unstructured":"Jager EA, Kuijpers MM, Bosch AM, Mulder MF, Gozalbo ER, Visser G, de Vries M, Williams M, Waterham HR, van Spronsen FJ, Schielen PCJI, Derks TGJ (2019) A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands. 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