Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by progressive degeneration of alpha motor neurons, leading to muscle atrophy, paralysis, and even death1 .Mostly it has a recessive inheritance; however, autosomal dominant and X-linked inheritance has been documented2 The reported incidence is about 1 in 10,000 live births with a carrier frequency of 1 in 50.3 The gene for SMA, survival motor neuron (SMN1) has been mapped on the 5q11.2-13.3 region and there are two copies of SMN gene: SMN1 and SMN2.4
SMA disorders are classified as types 1 through 4 depending upon the age of onset and clinical course. Treatment for spinal muscular atrophy has mainly been supportive mainly directed at providing nutrition and respiratory …show more content…
Its use was based mainly upon an interim analysis of the multicenter, double-blind, ENDEAR trial. The trial enrolled infants with SMA who were seven months of age or younger and randomly assigned them to intrathecal nusinersen treatment or sham procedure (control) in a 2 to 1 ratio. In an interim analysis of 82 eligible patients, improvement in motor milestones (eg, head control, sitting, kicking in supine position, rolling, crawling, standing, and walking) was observed in 40 percent of patients treated with nusinersen, versus none for those who received the sham procedure 9 IN addition, the FDA noted that data from uncontrolled, open label studies evaluating nusinersen for symptomatic patients (ages 30 days to 15 years) and presymptomatic patients (ages 8 to 42 days) were generally supportive of the clinical benefit that was seen in the ENDEAR trial.
Treatment with nusinersen may lead to respiratory tract infections and constipation and the prescribing label notes an increased risk for thrombocytopenia, coagulation abnormalities and renal toxicity despite that it is the first drug approved to treat pediatric and adult patients with
SMA disorders are classified as types 1 through 4 depending upon the age of onset and clinical course. Treatment for spinal muscular atrophy has mainly been supportive mainly directed at providing nutrition and respiratory …show more content…
Its use was based mainly upon an interim analysis of the multicenter, double-blind, ENDEAR trial. The trial enrolled infants with SMA who were seven months of age or younger and randomly assigned them to intrathecal nusinersen treatment or sham procedure (control) in a 2 to 1 ratio. In an interim analysis of 82 eligible patients, improvement in motor milestones (eg, head control, sitting, kicking in supine position, rolling, crawling, standing, and walking) was observed in 40 percent of patients treated with nusinersen, versus none for those who received the sham procedure 9 IN addition, the FDA noted that data from uncontrolled, open label studies evaluating nusinersen for symptomatic patients (ages 30 days to 15 years) and presymptomatic patients (ages 8 to 42 days) were generally supportive of the clinical benefit that was seen in the ENDEAR trial.
Treatment with nusinersen may lead to respiratory tract infections and constipation and the prescribing label notes an increased risk for thrombocytopenia, coagulation abnormalities and renal toxicity despite that it is the first drug approved to treat pediatric and adult patients with