Roche has announced positive new four-year results from an open-label extension study of its spinal muscular atrophy (SMA) treatment, Evrysdi (risdiplam), in young children.

SMA is a severe and progressive neuromuscular disease affecting approximately one in every 10,000 babies.

People living with the condition have insufficient levels of the SMN protein, which is essential to the function of nerves that control muscles and other functions such as swallowing, speaking, breathing and movement.

Depending on the form of SMA, the patient’s physical strength and their ability to walk, eat or breathe can be considerably compromised or lost. Without treatment, children with type 1 SMA are not expected to live past age two and are never able to sit without support.

Roche’s Evrysdi, which can be administered at home in liquid form by mouth or by feeding tube, is designed to treat the disease by increasing and sustaining the production of SMN protein in the central nervous system and peripheral tissues.

The open-label FIREFISH study has been assessing the safety and efficacy of the small molecule pre-mRNA splicing modifier in 58 type 1 SMA patients aged one to seven months at the time of enrolment.

The new long-term data, which was presented by the company at the Cure SMA Research and Clinical Care Meeting, shows that many of the patients continued to improve their ability to sit, stand and walk without support.

Out of the total, 37 patients were able to sit without support for at least five seconds at month 48, and 36 were able to sit without support for at least 30 seconds.

Between month 24 and month 48, three patients also gained the ability to stand alone and one gained the ability to walk alone. Additionally, more than 95% maintained their ability to feed by mouth and swallow up to month 48.

Levi Garraway, chief medical officer and head of global product development, said: “The independence that comes with sitting, standing and walking is transformational for children with SMA, and their families, and we are very encouraged by how these skills increased over four years of Evrysdi treatment for many children in this study.

“Nine out of ten patients in our studies remain on Evrysdi long-term and this data underscores its importance as an option for people with SMA across a broad range of age and disease types.”

Roche leads the clinical development of Evrysdi as part of a collaboration with the SMA Foundation and PTC Therapeutics.

Reference：
https://www.pmlive.com/pharma_news/roches_evrysdi_shows_continued_improvement_in_children_with_spinal_muscular_atrophy_1494122