EMA has recommended granting a marketing authorisation in the European Union for the first treatment that can be given orally to patients with certain types of spinal muscular atrophy (SMA), a rare and often fatal genetic disease that causes muscle weakness and progressive loss of movement.
Evrysdi is indicated for the treatment of 5q SMA in patients 2 months of age and older, with a clinical diagnosis of Type 1, Type 2 or Type 3 SMA or with one to four SMN2 copies.
Spinal muscular atrophy is an inherited disease usually diagnosed in the first year of life that affects the motor neurons (neurons from the brain and spinal cord that control muscle movements). Patients with the disease lack a protein called ‘survival motor neuron’ (SMN), which causes the motor neurons to deteriorate and eventually die. This is a long-term debilitating and life-threatening disease because it causes breathing problems and muscle wasting that worsens over time.
The SMN protein can be made by two genes, SMN1 and SMN2. Patients with spinal muscular atrophy lack a working SMN1 gene but have at least one copy of the SMN2 gene, which mostly produces a short SMN protein that does not work as well as a full-length protein.
Risdiplam, the active substance of Evrysdi, has shown that it can enable the SMN2 gene to produce a full-length SMN protein, which is able to work normally. This is expected to increase survival of motor neurons and reduce symptoms of the disease.
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