Metachromatic Leukodystrophy (MLD) is a rare autosomal recessive disorder, affecting about 1 in 40,000 to 1 in 160,000 individuals, caused by mutations in the ARSA gene. This results in arylsulfatase A deficiency and toxic sulfatide buildup, which progressively damages the myelin sheath in the central and peripheral nervous systems. Symptoms typically start in early childhood and include muscle weakness, difficulty walking, speech problems, and developmental delays. As the disease progresses, patients experience seizures, cognitive decline, and loss of motor-, vision-, and hearing functions. The most severe form, early-onset MLD, progresses rapidly, with life expectancy often limited to 5–10 years. There is no available cure, but some therapies may slow disease progression. The persistent unmet need among patients underlines the need for new, improved treatment options.
Contera Pharma A/S
Venlighedsvej 4
2970 Hørsholm
Denmark
Thomas Sager, CEO
info@conterapharma.com