The recent approval by regulatory agencies worldwide of Zolgensma, a gene therapy for children with type 1 Spinal Muscular Atrophy 1 (SMA1), raised happiness and gratitude across families and scientific communities.
SMA1 is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Without treatment, symptoms of SMA1 become apparent before 6 months of age and include worsening muscle weakness and poor muscle tone (hypotonia) due to loss of the lower motor neurons in the spinal cord and brain stem.
Feeding and breathing problems are also present. SMA1 is caused by changes (pathogenic variants also called mutations) in the SMN1 gene and is typically inherited in an autosomal recessive manner. Zolgensma, which is manufactured by Novartis Gene Therapies (a division of Novartis Pharmaceuticals), has been shown to help babies with breathing without a ventilator, sitting up on their own, crawling and walking after a single infusion treatment; those are very relevant milestones when it comes to their quality of life.
The latest data suggest that Zolgensma can provide rapid and sustained improvement in motor functions for young children with type 1 SMA and prolong their lives. CVBF is committed to paediatric research and supports the development of innovative therapies and drugs for the treatment of rare diseases affecting children, such as SMA1.
“We will put all our efforts and scientific expertise to make a difference in the lives of these children to provide them all treatments they deserve. It is time to overcome barriers that prevent access to innovative treatments, and to change the approach of funders and policymakers by considering the real value of disability-adjusted life years, together with the loss of productivity of the caregivers and the expenses of the sanitary services”, said Donato Bonifazi, CVBF CEO.