RARE Daily

CHMP Recommends Evrysdi for Infants Less than Two Months Old with SMA

July 24, 2023

The Committee for Medicinal Products for Human Use adopted a positive opinion for the extension of Genentech and PTC Therapeutics’ Evrysdi to include infants under two months of age in the European Union.

A final decision regarding the approval is expected from the European Commission later this year.

“The CHMP opinion represents another important milestone in the development of Evrysdi,” said Matthew Klein, CEO of PTC Therapeutics. “Pre-symptomatic babies are an important patient group that deserve access to oral, at-home administered treatments early in the disease.”

Spinal muscular atrophy (SMA) is a severe, progressive neuromuscular disease that can be fatal. It affects approximately 1 in 10,000 babies and when untreated is the leading genetic cause of infant mortality. SMA is caused by a mutation of the survival motor neuron 1 (SMN1) gene, which leads to a deficiency of SMN protein. This protein is found throughout the body and is essential to the function of nerves that control muscles and movement. Without it, nerve cells cannot function correctly, leading to progressive muscle weakness over time. Depending on the type of SMA, an individual’s physical strength and their ability to walk, eat, or breathe can be significantly diminished or lost.

Evrysdi is a survival motor neuron 2 (SMN2)-directed RNA splicing modifier designed to treat SMA caused by mutations in chromosome 5q that lead to SMN protein deficiency. Evrysdi is designed to distribute evenly to all parts of the body, including the central nervous system, and it is administered daily at home in liquid form by mouth or feeding tube. Evrysdi is designed to treat SMA by increasing and sustaining the production of the survival motor neuron. SMN protein is found throughout the body and is critical for maintaining healthy motor neurons and movement.

Evrysdi was based on PTC’s splicing platform. Evrysdi is marketed by Roche and in the United States by Genentech, a member of the Roche Group. Roche leads the clinical development of Evrysdi as part of a collaboration with the SMA Foundation and PTC Therapeutics.

Evrysdi was granted PRIME designation by the European Medicines Agency (EMA) in 2018 and Orphan Drug designation by the FDA in 2017. Evrysdi is currently approved in 100 countries. Evrysdi is marketed in the United States by Genentech, a member of the Roche Group, and marketed in rest of world by Roche.

The CHMP opinion is based on the RAINBOWFISH interim analysis, which included six babies with two or three copies of the SMN2 gene who completed at least one year of study assessments. Of these, all were able to sit after one year of treatment with Evrysdi, 67 percent could stand, and half could walk independently. All infants were alive at 12 months without permanent ventilation.

Photo: Matthew Klein, CEO of PTC Therapeutics

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