First drug for home treatment for Spinal Muscular Atrophy
Roche launches a new effective treatment on the most common types of Spinal Muscular Atrophy – SMA (type 1, type 2 and type 3), the 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 by age and by characteristics of the pathology that proved effective in all target patients studied.
SMA is caused by the absence or alteration of the SMN1 gene, which results 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 Prof. Eugenio MercuriDirector of Child Neuropsychiatry Foundation of the A. Gemelli University Hospital 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 received previous therapy, and RAINBOWFISH, in presymptomatic patients “.
The green light from AIFA
Already available in our country from 2020 thanks to the compassionate use program for patients with type 1 and type 2 SMA, AIFA’s go-ahead in Italy for the reimbursement of risdiplam marks an important turning point in the panorama of rare diseases and in the management of the 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 vulnerable people is to be reduced to a minimum, favoring therapeutic paths that can be managed independently by the patient and his caregiver. The administration of the drug, a strawberry flavored syrup, is daily and atit comes 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 “.
How much does the SMA affect in Italy
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, in fact there were no situations of interruption of treatment in the clinical studies for safety reasons.
“Risdiplam represents the first home therapy for spinal muscular atrophy with proven efficacy which constitutes a potential transformation in the way of treating a large population of people living with SMA. By avoiding the need for administration in a hospital setting, in addition to facilitating the life of patients and their caregivers, risdiplam can promote adherence to the therapeutic protocol – says Dr. Riccardo MassonMedical Director, Child Neuropsychiatry, Developmental Neurology IRCCS Foundation Carlo Besta Neurological Institute. 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 up to home delivery 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 is 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. – conclude Anna Maria PorriniMedical Director of Roche Italy. Risdiplam received prestigious awards, including the Prix Galien 2021 innovation award in Italy in the ‘orphan drugs’ category. We are really proud to be able to make available in Italy the first home treatment for the most common types of SMA, providing a new therapeutic solution for people who live with this disease every day “.