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Data from Genentech, a member of the Roche Group, recently announced that the New England Journal of Medicine (NEJM) has published data from FIREFISH Part 2, a pivotal global study evaluating the efficacy and safety of Evrysdi® (risdiplam) in babies aged 1-7 months old with symptomatic Type 1 spinal muscular atrophy (SMA). The study met its primary endpoint with 29% of infants (12/41) sitting without support for at least 5 seconds* by month 12, a milestone not seen in the natural course of the disease. Safety for Evrysdi in the FIREFISH Part 2 study was consistent with its known safety profile.

At the time of the data analysis, the median duration of treatment with Evrysdi was 15.2 months and the median age of babies with SMA was 20.7 months. At month 12, 93% (38/41) of infants were alive and 85% (35/41) were free from permanent ventilation. Without treatment, the median age of death or permanent ventilation was 13.5 months in a natural history cohort. Ninety percent (37/41) had a CHOP-INTEND** score increase of at least four points, with 56% (23/41) achieving a score above 40; the median increase was 20 points.

In addition, the study met one of its secondary endpoints with 78% (32/41) of infants classified as HINE-2*** responders, after evaluating motor function through head control, sitting, voluntary grasp, ability to kick, rolling, crawling, standing, and walking. Infants were classified as HINE-2 responders if more motor milestones showed improvement than worsened.

Safety for Evrysdi in the FIREFISH Part 2 study was consistent with its known safety profile. The most common adverse events were upper respiratory tract infection (68%), pneumonia (39%), pyrexia (39%), constipation (20%), diarrhea (10%), and maculopapular rash (10%). The most common serious adverse events were pneumonia (32%), bronchiolitis (5%), hypotonia (5%), and respiratory failure (5%). Three infants experienced fatal complications of their disease within the first three months of treatment. None of these were attributed by the investigator as related to Evrysdi.

In February 2021, 12-month results from the dose finding Part 1 of the FIREFISH study were published in NEJM.

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

*As assessed by the Gross Motor Scale of the Bayley Scales of Infant and Toddler Development Third Edition (BSID-III)
**Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders
***Hammersmith Infant Neurological Examination 2

Related Evrysdi data published in NEJM 

About Evrysdi® (risdiplam)

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