November 2024: A scientific project has begun with the ambitious goal of laying the foundation for a new therapeutic principle that is far more effective and curative than anything currently available, capable of completely curing the disease. The project is fully funded by CBLC APS.
The project’s foundation is based on a previous preliminary study, led by Dr. Laura Tinti in 2014 at the Fondazione Toscana Life Science, which demonstrated that a recombinant MMACHC protein, produced in the laboratory and inserted into cells obtained from biopsies of patients with CBLC, was able to restore proper intracellular metabolism. Evidence of the therapy’s efficacy was provided by measuring homocysteine and methylmalonic acid levels before and after administration of the protein to the cells. A normalization of the aforementioned metabolite levels was demonstrated after therapy with the recombinant protein.
The goal of the current study is to provide proof of concept for the development of an intracellular transport system for the MMACHC protein that can efficiently and safely restore proper cellular metabolism. This system is expected to meet the requirements for future testing in an animal model of the disease to advance the development of enzyme replacement therapy.
The study is structured over an expected time frame of 24 months and is divided into several phases:
