South San Francisco, CA -- January 22, 2020 -- Genentech, a member of the Roche Group (SIX: RO, ROG; OTCQX: RHHBY), today announced positive topline results from the pivotal Part 2 of the FIREFISH study, evaluating risdiplam in infants aged 1-7 months with Type 1 spinal muscular atrophy (SMA). The primary outcome measure of the study was the proportion of infants sitting without support for at least five seconds at 12-months of treatment, assessed by the Gross Motor Scale of the Bayley Scales of Infant and Toddler Development – Third Edition (BSID-III). Safety for risdiplam in the FIREFISH study was consistent with its known safety profile and no new safety signals were identified. To date, more than 400 patients have been treated with risdiplam across all studies, with no treatment-related safety findings leading to study withdrawal in any risdiplam trial.

“This large, global trial confirms the efficacy of risdiplam in an advanced and difficult-to-treat population, including many infants whose disease had already progressed significantly before starting treatment,” said Levi Garraway, M.D., Ph.D., chief medical officer and head of Global Product Development. “We are very encouraged by these results and we look forward to sharing them with regulators. We also thank the entire SMA community for their continued partnership.”

Risdiplam is an investigational survival motor neuron-2 (SMN-2) splicing modifier, designed to increase and sustain SMN protein levels throughout the central nervous system and in peripheral tissues in the body. Genentech leads the clinical development of risdiplam as part of a collaboration with the SMA Foundation and PTC Therapeutics. Data from the FIREFISH study will be presented at an upcoming medical congress.

Risdiplam is being studied in a broad clinical trial program in SMA, with patients ranging from birth to 60 years old, and includes patients previously treated with SMA-targeting therapies. The clinical trial population represents the broad real-world spectrum of people living with this disease with the aim of ensuring access for all appropriate patients.

About the FIREFISH study

FIREFISH is a two-part, open-label, pivotal study in infants aged 1-7 months with Type 1 SMA. Part 1 (n=21) assessed the safety profile of risdiplam and determined the dose for Part 2. Part 2 (n=41) assessed efficacy as measured by the proportion of infants sitting without support after 12 months of treatment, and longer, assessed by the Gross Motor Scale of the Bayley Scales of Infant and Toddler Development – Third Edition (defined as sitting without support for 5 seconds).

About SMA

Spinal muscular atrophy (SMA) is a severe, inherited, progressive neuromuscular disease that causes devastating muscle atrophy and disease-related complications. It is the most common genetic cause of infant mortality and one of the most common rare diseases, affecting approximately one in 11,000 babies. SMA leads to the progressive loss of nerve cells in the spinal cord that control muscle movement. 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.

SMA is caused by a mutation in the survival motor neuron-1 (SMN-1) gene that results in a deficiency of SMN protein. SMN protein is found throughout the body and increasing evidence suggests SMA is a multi-system disorder and the loss of SMN protein may affect many tissues and cells, which can stop the body from functioning.

About Risdiplam

Risdiplam is an investigational survival motor neuron-2 (SMN-2) splicing modifier for SMA and is an orally administered liquid. It is designed to increase and sustain SMN protein levels both throughout the central nervous system and peripheral tissues of the body. It is being evaluated for its potential ability to help the SMN-2 gene produce more functional SMN protein throughout the body.

Risdiplam is currently being evaluated in four multicenter trials in people with SMA:

• FIREFISH (NCT02913482) – as above. Results will be presented at an upcoming medical congress.
• SUNFISH (NCT02908685) – a two-part, double-blind, placebo-controlled pivotal clinical trial in people aged 2–25 years with Type 2 or 3 SMA. Part 1 (n=51) determined the dose for the confirmatory Part 2. Part 2 (n=180) evaluated motor function using total score of Motor Function Measure 32 (MFM-32) at 12 months. Part 2 met its primary endpoint in November 2019. Data will be presented at an upcoming medical congress.
• JEWELFISH (NCT03032172) – an open-label exploratory trial in people with SMA Type 1, 2 or 3 aged 6 months to 60 years who have been previously treated with SMA therapy, gene therapy or olesoxime. The study is close to completing recruitment.
• RAINBOWFISH (NCT03779334) – an open-label, single-arm, multicenter study, investigating the efficacy, safety, pharmacokinetics and pharmacodynamics of risdiplam in babies (~n=25), from birth to 6 weeks of age (at first dose) with genetically diagnosed SMA who are not yet presenting with symptoms. The study is currently recruiting. (Article from : www.drugs.com)