Rome, April 29 (beraking latest news Salute) – “Today a newborn screening for spinal muscular atrophy (SMA) is more necessary than ever in the face of the innovative treatments we have, such as gene therapy. It is unacceptable that there are regional differences with a huge gap for a child born in a region with screening and one born in an area of the country that does not offer this opportunity. The regions must do their part and commit themselves, as Puglia has done with an ad hoc law “. This is the appeal of Francesco Danilo Tiziano, of the Institute of Genomic Medicine, Catholic University of the Sacred Heart of Rome, engaged in the pilot study for the screening on SMA, Lazio and Tuscany, which in a year and a half tested 74 thousand children identifying 14 cases.
The appeal was launched during the press conference ‘Spinal muscular atrophy: the innovation of gene therapy and the challenges of newborn screening “, organized with the support of Novartis. Newborn screening – on 49 diseases at the moment – is active in Italy since 1992, but to date only a few regions have included SMA among the pathologies that can be diagnosed with blood sampling done, routinely, in the first days of life, and pilot studies will be launched in the coming months in Piedmont and Liguria. An expansion of the list of ‘screenable’ diseases is also expected: on May 30, the deadline for updating the list at national level, with the inclusion, hopefully, of the SMA will expire.
If until a few years ago the treatment of SMA was exclusively symptomatic, based on multidisciplinary approaches and aimed at improving the quality of life of patients, today with the arrival of the first gene therapy, which intervenes on the genetic cause of the disease, it becomes fundamental. that therapeutic innovation is accompanied by early diagnosis and treatment.
Eugenio Mercuri, director of Uoc child neuropsychiatry, Fondazione Policlinico Gemelli Irccs in Rome specified that for SMA, “it is the most serious form, SMA1, the one affected by gene therapy. And for children who cannot do gene therapy there are however other therapies. Compared to the past, we clinicians have the opportunity to approach families differently. Four or 5 years ago we could not tell the parents who asked that the child would walk. Today we have other perspectives “.
Francesco Danilo Tiziano stressed that “we are in a cultural revolution that must not be stopped. It is valid today for SMA and will soon apply to other pathologies. But at the moment there is a crazy delay in screening in many parts of Italy. And this must be changed “.
Anita Pallara, president of Sma Families, recalled that the association “has been involved for several years in the request for screening. It is important and it is our task that there are no A-grade children and B-grade children. days of life means changing his existence and that of his whole family “, he concluded, inviting the institutions not to delay updating the list of diseases to be searched for in newborn screening” for us every day that passes without is a wasted day “.