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Positive 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 ) were announced.

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.

Risdiplam is an investigational survival motor neuron-2 ( SMN2 ) splicing modifier, designed to increase and sustain SMN protein levels throughout the central nervous system and in peripheral tissues.

Risdiplam is being studied in a broad clinical trial programme 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.

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 BSID-III ( defined as sitting without support for 5 seconds ).

Spinal muscular atrophy 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 ( SMN1 ) 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. ( Xagena )

Source: Roche, 2020

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