MPS I, MPS II et MPS VI
Mucopolysaccharidoses (MPS) are a group of rare genetic disorders characterized by deficiency of lysosomal enzymes responsible for the normal degradation of glycosaminoglycans (GAGs) or mucopolysaccharides. The enzyme deficiency leads to progressive accumulation of GAGs in the lysosomes and causes progressive damage throughout the body, including the heart, eyes, bones, joints, respiratory system and central nervous system.
MPS symptoms are first shown during early childhood. The life expectancy of MPS patients depends on the severity of symptoms. Without treatment, severely affected individuals may survive only until late childhood or adolescence. Those with milder forms of the disorder usually live into adulthood, although their life expectancy may be reduced.
MPS are categorized into seven types (I, II, III, IV, VI, VII and IX) based on the enzyme affected. IVA336 thanks to its mechanism of action enabling the production of soluble GAGs and its oral formulation is particularly suited to treat MPS I, II and VI diseases where no satisfactory treatments exists.
IVA336 has demonstrated good tolerability, safety and efficacy in phase I and phase IIa studies, in approximately 700 healthy volunteers and 1100 patients. The drug has been investigated in several preclinical models and its potential has been proven in MPS. It may be therefore anticipated that IVA336 could prove beneficial to MPS patients (MPS I, II and VI) as a substrate reduction therapy as a stand-alone treatment on in adjunction to current treatments.
IVA336 benefits from full preclinical and clinical regulatory dossier allowing to quickly investigate its efficacy in patients. A proof of concept phase I/II study is currently under preparation.