BioMarin to Present Findings on Pompe Disease and Duchenne Muscular Dystrophy

The oral presentation on Pompe disease included preliminary clinical findings on reveglucosidase alfa’s (BMN 701) safety and efficacy profile from an extension study on patients with late onset Pompe disease – a genetic disorder caused by a deficiency in alpha-glucosidase, leading to the accumulation of glycogen and progressive weakening of the muscles, eventually resulting in the loss of independent breathing. BioMarin’s reveglucosidase alfa is a breakthrough combination treatment comprised of of insulin-like growth factor 2 (IGF-2) and acid alpha-glucosidase that works by targeting delivery to cellular lysosomes. The major strength of BMN 701 is its ability to bind to key cell receptors that direct the enzyme to the cell’s lysosome. Instead of engineering cells to make GAA with higher levels of mannose-6 phosphate (M6P), BioMarin’s compound takes advantage of the fact that the peptide IGF-2 also binds to the M6P receptor. Every molecule of BMN 701 can bind the mannose-6 phosphate receptor, be taken up into cells and trafficked to the lysosome where it can degrade the glycogen that causes Pompe disease.

Importantly, BioMarin also presented updates on Duchenne muscular dystrophy, a genetic condition caused by a deficiency in dystrophin, including a planned study on the disease’s natural history to assess how it progresses in patients’ physical impairment and quality of life. The results were entitled “Exploring the route from exon skipping antisense oligonucleotide administration to functional effects in muscle of the mdx mouse model of Duchenne muscular dystrophy” and “A prospective natural history study to measure progression of physical impairment, activity limitation and quality of life in Duchenne muscular dystrophy“, respectively.

Cellular models can elucidate molecular mechanisms underlying several diseases, reducing animal usage in biomedical sciences and following the guiding principles for animal testing. Now, researchers at the Karolinska Institute and at the Karolinska University published a study entitled “Primary Murine Myotubes as a Model for Investigating Muscular Dystrophy” in the journal BioMed Research International where they establish mouse cell cultures of myotubes to study calcium alterations associated with muscular dystrophies (MDs).