Roche has presented positive results from an ongoing study evaluating its spinal muscular atrophy (SMA) treatment Evrysdi (risdiplam) in babies aged from birth to six weeks with pre-symptomatic disease.

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

Those 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.

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.

Clinical studies have shown that the loss of motor neurons may begin before symptoms start, so beginning treatment early is seen as critical for improved outcomes.

Results from the ongoing RAINBOWFISH study, which includes babies with two or more copies of the SMN2 gene, were presented at this year’s World Muscle Society Congress.

The study met its primary endpoint, with 80% of the five patients in the primary efficacy population able to sit without support for at least five seconds after one year of treatment with Evrysdi.

Additionally, of the 26 babies in the study, 81% could sit independently for 30 seconds, and the majority were standing and walking. Without treatment, children with type 1 SMA would never be expected to sit.

Adverse events were more reflective of the age of the babies than underlying SMA, Roche said, and the majority were not considered treatment-related.

Levi Garraway, Roche’s chief medical officer and head of global product development, said: “Evrysdi is the only non-invasive SMA treatment and can be used within hours of birth, potentially allowing these babies to sit, stand and walk, similar to healthy individuals.

“Evrysdi has now demonstrated its safety and efficacy in babies, children and adults and this compelling data continues to reinforce our confidence in this treatment.’’

The drug is currently approved in over 100 countries and is being evaluated in five multicentre trials in SMA patients, including in combination with an anti-myostatin molecule among patients aged two to ten years.

https://www.pmlive.com/pharma_news/roche_presents_positive_results_for_spinal_muscular_atrophy_treatment_evrysdi_in_babies_1501592