PTC Therapeutics has been awarded a grant from the Department of Defense Neurofibromatosis Research Program. The grant will enable PTC to apply its Small Molecule Modulation of Read-Through (SMMRT) program to investigate compounds that promote read-through of nonsense mutations as a treatment for Neurofibromatosis Type 1 (NF1).
A nonsense mutation leads to the synthesis of an mRNA that contains an inappropriate stop codon (nonsense codon) within its protein-coding region. Unlike normal mRNA, which enables the synthesis of full-length protein, nonsense containing mRNA leads to premature termination of translation and synthesis of a truncated protein. PTC has discovered compounds that restore synthesis of full-length protein from nonsense-containing mRNA and alleviate the disease state. Approximately one-third of Neurofibromatosis Type 1 cases are caused by a nonsense mutation. PTC will characterize and optimize compounds that restore the synthesis of NF1 protein from NF1 genes harboring nonsense mutations.
"The SMMRT program has advanced very rapidly and identified pre-clinical compounds for genetic diseases and cancer. This grant enables PTC to apply our technology to Neurofibromatosis Type 1, a disease for which there is no current adequate treatment," said Stuart Peltz, President and CEO, PTC Therapeutics.