PTC Therapeutics presented Phase 1 clinical data from the company's joint development program with Roche and the SMA Foundation in spinal muscular atrophy (SMA) at the 2015 American Academy of Neurology 67th Annual Meeting.
Findings from the Phase 1 study indicated that RG7800, an investigational oral therapy for SMA, showed a favorable safety profile and was well tolerated at all dose levels studied. In addition, proof of mechanism was demonstrated by a dose-dependent effect on Survival Motor Neuron 2 (SMN2) splicing towards the production of full length SMN2 mRNA. The Phase 1 study was a single ascending dose, placebo-controlled, double-blind study in 48 healthy volunteers testing single oral doses from 0.5 to 90 mg.
"The ability to demonstrate proof of mechanism in this Phase 1 study was a major achievement both for our SMA collaboration as well as PTC's alternative splicing platform," stated Stuart W. Peltz, Ph.D., Chief Executive Officer, PTC Therapeutics, Inc. "Given its mechanism of action, RG7800 targets the underlying cause of the disorder, and has the potential to restore functional SMN protein levels in the nervous system, muscle, and other tissues throughout the body. We are encouraged by the progress that is being made in the ongoing Phase 2 Moonfish study in SMA patients that was initiated late last year and look forward to the results of this study in 2016."
SMA is a genetic neuromuscular disease caused by a missing or defective SMN1 gene, which results in reduced levels of SMN protein. The homologous SMN2 gene is predominantly spliced to a shortened mRNA, and only produces small amounts of SMN protein. Insufficient levels of SMN protein are responsible for the loss of motor neurons within the spinal cord leading to muscle atrophy and death in infants and toddlers in its most severe form. It is estimated that this devastating disease affects 1 in every 11,000 children born. There are no marketed therapies for SMA.
RG7800 is an orally available small molecule being investigated for its ability to selectively modify the splicing of the SMN2 gene, which is present both in healthy individuals and SMA patients, towards the production of full length mRNA. Preclinical studies in animal models of SMA demonstrated an increase in functional full length SMN protein with significant efficacy benefits on survival and motor function.
Findings from the Phase 1 study indicated that RG7800, an investigational oral therapy for SMA, showed a favorable safety profile and was well tolerated at all dose levels studied. In addition, proof of mechanism was demonstrated by a dose-dependent effect on Survival Motor Neuron 2 (SMN2) splicing towards the production of full length SMN2 mRNA. The Phase 1 study was a single ascending dose, placebo-controlled, double-blind study in 48 healthy volunteers testing single oral doses from 0.5 to 90 mg.
"The ability to demonstrate proof of mechanism in this Phase 1 study was a major achievement both for our SMA collaboration as well as PTC's alternative splicing platform," stated Stuart W. Peltz, Ph.D., Chief Executive Officer, PTC Therapeutics, Inc. "Given its mechanism of action, RG7800 targets the underlying cause of the disorder, and has the potential to restore functional SMN protein levels in the nervous system, muscle, and other tissues throughout the body. We are encouraged by the progress that is being made in the ongoing Phase 2 Moonfish study in SMA patients that was initiated late last year and look forward to the results of this study in 2016."
SMA is a genetic neuromuscular disease caused by a missing or defective SMN1 gene, which results in reduced levels of SMN protein. The homologous SMN2 gene is predominantly spliced to a shortened mRNA, and only produces small amounts of SMN protein. Insufficient levels of SMN protein are responsible for the loss of motor neurons within the spinal cord leading to muscle atrophy and death in infants and toddlers in its most severe form. It is estimated that this devastating disease affects 1 in every 11,000 children born. There are no marketed therapies for SMA.
RG7800 is an orally available small molecule being investigated for its ability to selectively modify the splicing of the SMN2 gene, which is present both in healthy individuals and SMA patients, towards the production of full length mRNA. Preclinical studies in animal models of SMA demonstrated an increase in functional full length SMN protein with significant efficacy benefits on survival and motor function.
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