GALNS for MPS IVA (Morquio A syndrome)
Morquio A syndrome is an inherited, autosomal recessive disease caused by a deficiency of a particular lysosomal enzyme, N-acetylgalactosamine-6 sulfatase (GALNS). Deficiency of the enzyme results in excessive lysosomal storage of keratan sulfate in many tissues and organs. This accumulation causes systemic skeletal dysplasia, short stature, and joint abnormalities, which limit mobility and endurance. Malformation of the thorax impairs respiratory function, and malformation of neck vertebrae and ligament weakness causes cervical spinal instability and, potentially, cord compression. Other symptoms may include hearing loss, corneal clouding, and heart valve disease. Morquio A syndrome is estimated to occur in 1 in 200,000 to 300,000 live births.
BioMarin's proposed treatment for Morquio A syndrome is enzyme replacement of GALNS, which is expected to result in clearance of keratan sulfate from the lysosome. This should halt the progression of the disease and may ameliorate some symptoms.
For more information on Morquio syndrome and BioMarin's current research into treatment of the disease please check the BioMarin Morquio website at http://www.morquiobmrn.com/.