VAL-0620 is a fusion protein of the platform delivery antibody 3E10 linked to MTM1, the enzyme missing in patients with myotubular myopathy.
Myotubular myopathy is an x-linked congenital myopathy in which a deficiency of a single enzyme (MTM1) causes severe muscle disease. The prevalence of this disease is 1 : 50,000 male births. It is a fatal infantile disease, with perinatal onset and is characterized by severe muscle weakness and respiratory distress. Muscle biopsies show excessive central nucleation and decreased fiber size. Death occurs by 12 months in most patients.
Valerion’s goal is to replace MTM1, thereby reversing or preventing the myopathy and respiratory symptoms in patients.
Preclinical studies are currently underway with VAL-0620 as a potential treatment option for patients with MTM.
Lawlor MW, Armstrong D, Viola MG, Widrick JJ, Meng H, Grange RW, Childers MK, Hsu CP, O’Callaghan M, Pierson CR, Buj-Bello A, Beggs AH.
Hum Mol Genet. 2013 Apr 15;22(8):1525-38.