Roche has unveiled positive results from FIREFISH Part 2 clinical trial, evaluating risdiplam in one to seven months old infants with symptomatic Type 1 spinal muscular atrophy (SMA).

SMA is a severe, inherited, progressive neuromuscular disease that causes excessive muscle atrophy and disease-related complications, leading to the progressive loss of nerve cells in the spinal cord that controls muscle movement.

Risdiplam is an orally administered liquid used as an investigational survival motor neuron-2 (SMN2) splicing modifier for SMA, designed to increase and sustain SMN protein levels both throughout the central nervous system and in peripheral tissues of the body.

Roche said that the European Medicines Agency (EMA) has granted PRIME designation and the US Food and Drug Administration has granted Orphan Drug Designation for the drug and is currently being evaluated in Brazil, Chile, China, Indonesia, Russia, South Korea, and Taiwan.

Roche global product development head and chief medical officer Levi Garraway said: “These results confirm the clinically meaningful efficacy of risdiplam in infants with an advanced and difficult-to-treat disease. We thank the SMA community for their partnership and especially the 62 families from around the world who participated in Parts 1 and 2 of the FIREFISH study.”

Safety of risdiplam in the FIREFISH study was consistent with known safety profile

The FIREFISH clinical trial has reached its primary endpoint with 29% of infants sitting without support for five seconds, as assessed by the gross motor scale of the Bayley Scales of infant and toddler development third edition (BSID-3).

In addition, 43.9% of infants were able to hold their head upright, 31.7% could roll to the side and 4.9% infants could stand with support, as measured by the Hammersmith infant neurological examination.

In the FIREFISH study, risdiplam has demonstrated safety consistent with its previously reported safety profile and no new safety signals were identified.

The most common adverse events include upper respiratory tract infection, pneumonia, pyrexia, constipation, nasopharyngitis, rhinitis and diarrhoea, while the most common serious adverse events include pneumonia, bronchiolitis, respiratory failure and hypotonia.

FIREFISH investigator Laurent Servais said: “These results are particularly encouraging given the median age at enrolment was 5.3 months, so these infants already had progressed disease. Maintaining the ability to swallow is particularly important as it helps infants to feed and suggests risdiplam has a major effect on bulbar function.”