“Sma represents a devastating genetic disease for patients affected by it and for those who care for them, leading to a compromise in the quality of life and also to a substantial impact on survival. Novartis started from this important and unmet medical need to research and develop an answer for people and children born with this rare genetic disease, addressing advanced gene therapy that can act on the cause of the disease, providing the replacement of a missing or non-functioning gene and, therefore, blocking the progression of the disease illness”. Thus Roberta Rondena, Country Value & Access Head, Novartis, comments on the extension of the gene therapy onasemnogene abeparvovec (Zolgensma*) also to SMA type 2, in a meeting with the press organized today in Rome by Novartis.
“Novartis has started a large program of clinical studies which has demonstrated rapid substantial clinically relevant benefits in young children affected by Sma 1 and Sma 2 – recalls Rondena – This led to reimbursement in 2021 and therefore to the possibility of using gene therapy in patients with SMA 1, which represents the most severe form of the disease and approximately 60% of incident cases, 125 young children have been treated in Italy and 3,700 children worldwide, including clinical trials and expanded access programs. and clinical practice”. Precisely “thanks to the experience in clinical practice and also to the prolonged period of observation of clinical studies, all this has led to reimbursement and therefore to the possibility of using gene therapy today also in SMA 2 and pre-symptomatic SMA 2 – he underlines – This is a very important step, because the evidence and efficacy data demonstrate that early intervention on the disease in the pre-symptomatic phase leads children to reach goals in motor development that are close to that of their healthy peers.”
“Novartis' commitment – underlines Rondena – has been and still is alongside the institutions, the Regions, the scientific societies, the patient associations to allow all patients who are candidates and eligible for treatment with gene therapy to have access in an in a timely manner in an appropriate manner and without inequalities. In this there is also the virtuous model of collaboration to make the models of management, diagnosis and treatment of this disease of these patients increasingly effective, more efficient and tailor-made. In this regard, Novartis has been and is alongside all the players in the ecosystem to guarantee the possibility of carrying out neonatal screening”, which represents “a unique opportunity to impact the future of the lives of these young patients, precisely because a diagnosis in the first days of the child's life allows us to diagnose the disease and intervene in an early pre-symptomatic phase and therefore improve the outcome of the psychotherapeutic treatment”, he concludes.
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