Newborns with the ultra-rare and fatal genetic disorder – molybdenum cofactor deficiency (MoCD) Type A – now have a chance at life after Alexion Pharmaceuticals, Inc. purchased the assets and patents from Orphatec Pharmaceuticals GmbH, in order to accelerate the development of an investigational therapy to cure the fatal disorder.
MoCD Type A is characterised by a deficiency of the gene cPMP, which leads to an accumulation of toxic sulfite in the brain and causes severe and rapid brain damage, uncontrollable seizures, and rapid death (within weeks or months) in newborns. There are currently no treatment options for patients with MoCD Type A.
According to Dr Alex Veldman, Neonatal Specialist, Monash Children’s, Melbourne, “Families of infants with MoCD Type A have endured immense suffering because there has been little research on this devastating illness.”
In 2008, Dr Veldman successfully treated Baby Z with cPMP replacement therapy after she started having seizures about 60 hours after birth. When she was diagnosed, doctors held little hope for survival.
“My experience treating Baby Z with cPMP replacement therapy was remarkable,” said Dr Veldman. “I am thrilled that Alexion is committed to applying its proven expertise in developing drugs for patients suffering from ultra-rare disorders in order to seek regulatory approvals so that children with this destructive illness around the world can obtain access to this important therapy.”
The therapy is designed to replace the deficient cPMP, which enables MoCD production, so that the infant’s body can eliminate the toxic sulfite. Scientific discoveries underlying this highly innovative therapy were pioneered in Germany and Australia, and have led to encouraging early clinical experience with cPMP replacement therapy in several newborns. Investigators in Germany and Australia have reported clinically meaningful results in the first patient treated.1
1. Veldman A, et al. Successful treatment of molybdenum cofactor deficiency type A with cPMP Pediatrics. 2010 May; 125(5): e1249-54.