Monza – Roche launches in Italy a new effective treatment on the most common types of Spinal Muscular Atrophy – SMA (type 1, type 2 and type 3). AIFA has in fact approved the marketing and reimbursement of risdiplam, an innovative solution for the home treatment of patients with SMA studied on a large and heterogeneous population sample both in terms of age and pathology characteristics which has proved effective in all patient targets studied.
SMA is caused by the absence or alteration of the SMN1 gene, resulting in an insufficient amount of functional survival motor neuron (SMN) protein. The SMN protein is critical for the survival and functioning of the neurons involved in muscle contraction. Motor neuron degeneration leads to muscle atrophy and ultimately to paralysis.

“Risdiplam is a small molecule that allows the production of the functional SMN protein to be restored, thus reducing the symptoms of the disease and slowing its progression – explains Professor Eugenio Mercuri, Director of Childhood Neuropsychiatry A. Gemelli University Hospital Foundation IRCCS Catholic University of Rome. The efficacy and safety of this new therapeutic option are proven by the vast program of clinical studies which involved a very large patient population both in terms of age and pathology characteristics. These include the two pivotal trials Firefish and Sunfish, and the Jewelfish studies, in patients who have received previous therapy, and Rainbowfish, in presymptomatic patients “.

Already available in our country from 2020 thanks to the compassionate use program for patients with type 1 and type 2 SMA, AIFA’s green light in Italy for the reimbursement of risdiplam marks an important turning point in the panorama of rare diseases and in the management of pathology, which for the first time can be treated directly at home, in a historical moment in which, due to the Covid-19 pandemic, access to the hospital for the most fragile people is to be reduced to a minimum, favoring therapeutic paths that can be managed independently from the patient and his caregiver. The administration of the drug, a strawberry-flavored syrup, is daily and takes place orally, thus allowing access to treatment even for patients with more complicated clinical situations.
“The arrival of a new therapy is always a great joy for our community – comments Anita Pallara, President of SMA Families -. The first oral administration marks another, epochal, step forward. Risdisplam is an important weapon to combat the disease, thanks to which we will reach an increasing number of people. We thank the authorities and the company for the commitment and dedication with which they have made this new opportunity concrete in the shortest possible time. We are aware that it is a new challenge, ready to face it “.

The overall incidence of all forms of SMA is estimated to be 1 in 7/10 thousand live births. The prevalence of SMA types 2 and 3 is estimated to be between 40 cases / million children and 12 cases / million in the general population. To date, over 4500 patients worldwide have had access to risdiplam therapy. In Italy, 85% of the centers that deal with the treatment of SMA patients have already been able to use the treatment with risdiplam. Of the 1300 patients with spinal muscular atrophy estimated in our country, more than 300 have already been treated with risdiplam within clinical trials, compassionate use programs, and thanks to an early access program. The tolerability of the treatment was very positive,

“Risdiplam represents the first home therapy for Spinal Muscular Atrophy with proven efficacy which constitutes a potential transformation in the treatment modality of a large population of people living with SMA. By avoiding the need for administration in a hospital environment, in addition to facilitating the lives of patients and their caregivers, risdiplam can promote adherence to the therapeutic protocol – explains Dr. Riccardo Masson, Medical Director, Child Neuropsychiatry, Developmental Neurology Fondazione IRCCS Istituto Neurological Carlo Besta -. To support the home management of the drug, doctors will also have at their disposal a package of services aimed at facilitating the monitoring and progress of the treatment path “.
The service package provides that patients receive, in addition to the home delivery of risdiplam, a refrigerated bag useful for maintaining the cold chain of the drug until delivery at home and a scale for patients under 20 kg so that they can weigh themselves directly at home. and facilitate the clinician in monitoring any dose adjustments, which are weight-dependent for patients under 20 kg.

The innovation of this package also concerns the monitoring of the patient by the clinician, who, thanks to an app, can control and manage all aspects of therapy remotely, monitoring daily adherence and other elements that can have an impact on the profile. of the drug. “The search for therapeutic solutions and innovative services capable of responding to the needs of patients and those close to them is in Roche’s DNA, and risdiplam is one of the fruits of this constant commitment – concludes Anna Maria Porrini, Medical Director of Roche Italy – . Risdiplam received prestigious awards, including the Prix Galien 2021 innovation award in Italy for the ‘orphan drugs’ category. We are really proud to be able to make the first home treatment available in Italy for the most common types of SMA,