PTC Therapeutics announced positive topline results from part 2 of FIREFISH demonstrating that the study met its primary endpoint of proportion of infants who are sitting without support after 12 months of treatment. The pivotal study assessed the efficacy of risdiplam (RG7916) in infants with type 1 spinal muscular atrophy (SMA), the most severe, infantile onset form of this rare and devastating neuromuscular disease. Risdiplam has been well tolerated and no treatment-related safety findings leading to withdrawal have been observed in any risdiplam trial to date. Data from part 2 of the FIREFISH study will be shared with health authorities globally and will be presented at an upcoming medical congress.
PTC Therapeutics announced positive topline results from part 2 of FIREFISH demonstrating that the study met its primary endpoint of proportion of infants who are sitting without support after 12 months of treatment. The pivotal study assessed the efficacy of risdiplam (RG7916) in infants with type 1 spinal muscular atrophy (SMA), the most severe, infantile onset form of this rare and devastating neuromuscular disease. Risdiplam has been well tolerated and no treatment-related safety findings leading to withdrawal have been observed in any risdiplam trial to date. Data from part 2 of the FIREFISH study will be shared with health authorities globally and will be presented at an upcoming medical congress.
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Recently, positive results from part 2 of SUNFISH, a study evaluating the efficacy and safety of risdiplam in patients between 2 and 25 years of age with type 2 or 3 SMA, were announced. In November 2019, the U.S. Food and Drug Administration (FDA) accepted a New Drug Application (NDA) and granted Priority Review for risdiplam. The NDA filing was based on 12-month data from the dose-finding part 1 of the pivotal FIREFISH and SUNFISH studies, and preclinical pharmacokinetic and clinical and pharmacodynamic data in all types of SMA. The Prescription Drug User Fee Act (PDUFA) goal date for a decision by FDA is May 24, 2020.
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 (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.
Risdiplam is an investigational survival motor neuron2 (SMN2) splicing modifier for SMA and is an orally administered liquid. It is designed to durably increase and sustain SMN protein levels both throughout the central nervous system and in peripheral tissues of the body.