PTC Therapeutics has announced that Part 1 of the FIREFISH study has shown that RG7916, a Type 1 spinal muscular atrophy (SMA) drug, to be safe and well-tolerated in infants and babies with Type 1 SMA.
"It is exciting to show for the first time that an oral small molecule demonstrates early signs of clinical benefit," stated Stuart W. Peltz, Ph.D., Chief Executive Officer of PTC Therapeutics, in a press release
. "We believe a drug that distributes to both the CNS and peripheral tissues can provide an important benefit to children suffering from this devastating, fatal disease. We anticipate that the trial will transition to the pivotal portion in the coming months."
SMA is an inherited condition that causes the muscles to deteriorate over time, causing a patient to need assistance when sitting and lifting his or her head. In severe cases, SMA can affect breathing and swallowing. Atrophy of the muscles can begin before birth, during childhood and adolescence, or during young adulthood. Infants diagnosed with Type 1 typically live less than 2 years, affecting 1 in 11,000 children.
The FIREFISH study evaluated the safety and efficacy of RG7916 in babies aged 1 to 7 months diagnosed with Type 1 spinal muscular atrophy. During Part 1, patients received RG7916 for at least 4 weeks of daily administration. Part 2 intends to analyze the safety and efficacy of the drug at the dose level specified for the patient in Part 1 over 24 months. After the 24 month-period, the researchers will assess the efficacy of the drug by measuring the proportion of infants who can sit without support for 5 seconds or longer.
The FDA granted orphan drug designation to RG7926 for treating patients with SMA. The drug targets the underlying molecular deficiency of SMA by adjusting the SMN2 gene splicing to increase expression of full-length SMN2 mRNA from the gene.
Two other studies, titled SUNFISH and JEWELFISH, are continuing research regarding the tolerability and safety of RG7916. SUNFISH evaluates the efficacy of RG7916 in patients with Type 2 and Type 3 SMA. JEWELFISH analyzes the tolerability of RG7916 in patients who have participated in another SMN2 splicing therapy trial.
"Clinical trials in SMA patients require a globalization of clinical research; particularly, it is essential for a coordinated multidisciplinary team to support the babies and their families and to ensure the best standard of care to promote the higher benefit to affected children from potential new treatments," said Dr. Giovanni Baranello
, Fondazione Istituto Neurologico Carlo Besta in Milan, Italy.
For more information on this study and studies like it, follow Rare Disease Report