A real carousel in the city center. The citizens of Bari, Naples, Bologna, invited this year, to change the future of patients with spinal muscular atrophy (SMA)
(by Nicola Simonetti) The Tournament starts from Bari (18-20 October) and will reach, in the course of this year, Naples (from 25 to 27 October) and Bologna (from 8 to 10 November), “The carousel possible ", An itinerant awareness-raising campaign on Spinal Muscular Atrophy (SMA), promoted by SMA Families: a real carousel in the heart of Italian cities to involve all citizens, invited to" take a ride "to have fun, learn more about the SMA Families and to know that today even with SMA Spinal Muscular Atrophy a joyful future is possible.
SMA, a rare genetic neuromuscular disease, occurs predominantly in the first year of life but can also occur in adulthood. Today the prospects for patients and families have changed thanks to the advent of therapies that allow to stop the progression of the disease ensuring a good quality of life. The challenge now is to extend free neonatal screening to all regions, currently available in Lazio and Tuscany. Spinal Muscular Atrophy, the first genetic cause of infant death in the world, is a rare and hereditary degenerative neuromuscular disease, due to the mutation of the SMN1 gene, which prevents the sufficient production of the SMN protein, the so-called motor neuron survival factor, the cells nerve in the spinal cord and brainstem that carry signals from the brain to the muscles to control all motor activities. Due to the loss of strength and muscle mass (atrophy) patients are unable to crawl, walk independently, sit alone and remain seated, do not control the movement of the neck and head, have problems with swallowing and disorders respirators.
In Italy, according to recent estimates by the rare diseases observatory, the cases are beyond 900, most of them subjects under 16 years.
SMA can also manifest itself - says Isabella Laura Simone, Professor of Neurology, university, Bari - after childhood with a wide range of less severe symptoms from the SMA 1 form but which must be treated. Management is not simple and requires the intervention of numerous specialist figures and trained caregivers.
SMA, in fact, is a disease by definition multisystem, which starts from the motor neuron of the spinal cord and then compromises other systems, especially the osteo-skeletal apparatus, which is devoid of the muscular scaffold.
Up until two years ago a diagnosis of Spinal Muscular Atrophy (SMA), a genetic disease that blocks the development of motor functions, was a tragedy for the patient and for the family. Now the scenario is changing: today the cure of this disease is much more than a hope, thanks to the advent of therapies that allow to stop its progression. If promptly established (hence the complaint for unobserved regions), through early diagnosis, the available treatments offer SMA patients better life prospects than in the past.
To raise awareness of the new scenarios that are emerging, support fundraising and promote the extension of free newborn screening, currently accessible only in Lazio and Tuscany, "Families SMA", the parents' association that for almost twenty years years he is committed to fighting Spinal Muscular Atrophy, he returns to the Italian squares with the possible carousel which makes use of the non-conditioning contribution of Avexis, Biogen and Roche.
"Our goal with" The Giostra possible "is to create awareness in public opinion about a serious pathology that affects children but also adults - says Daniela Lauro, president of SMA Families - We want to involve citizens in our stories, in our aspirations, in the dreams and needs of our children; make local institutions aware of the urgency of newborn screening and timely treatment, which represent a new chapter in the fight against SMA. Together it is possible to change the future of these patients, that's why we are here, on the front line, because now it will no longer be an unattainable dream for a patient with SMA to get on a carousel ”.
It is important to identify infants who have the SMN1 gene altered or missing early, just as it is important to identify families that carry these gene mutations. Clinical studies have shown that the children identified with the genetic test and treated in the pre-symptomatic phase, ie before the signs of SMA appeared, almost all had normal stages of motor development.
It has recently started in Lazio and a pilot project for newborn screening, one of the very few in Europe, coordinated by the Catholic University of the Sacred Heart of Rome, will soon be launched in Tuscany.
The scenarios of the natural history of this hereditary neurodegenerative disease are rapidly evolving: if in the past the only interventions were palliative, in recent years the first treatment able to stop the progression of the disease was made available. In the near future, therapies are expected to help SMA children reach the milestones of motor development. But the great hope for the future is gene therapy, a treatment that allows the restoration of the function of defective or missing genes, the cause of genetic diseases such as SMA. A drug of this type has recently been approved in the USA.
"To date in Europe and in Italy nusinersen is registered - says Francesco Danilo Tiziano of the Institute of Genomic Medicine, Catholic University Sacred Heart of Rome - The drug is administered by lumbar puncture every four months, reaches the cells most involved in SMA, the spinal alpha motoneurons. The second treatment is gene therapy, registered for the moment only in the United States and based on the reintegration of the missing SMN1 gene. The third approach, still in clinical trial phase, is risdiplam, a drug that increases SMN protein production by the SMN2 gene, the partially functional copy of the missing SMN1 gene. This drug, unlike the other two therapies, can be suspended without problems and is a syrup ".