Alexion is developing a highly innovative, first-in-class therapy for the treatment of hypophosphatasia (HPP),
an ultra-rare, life-threatening, genetic metabolic disorder that leads to progressive damage to multiple vital organs.
Alexion also is developing a highly innovative therapy for the treatment of molybdenum cofactor deficiency (MoCD) Type A,
a devastating, ultra-rare disorder that leads to severe brain damage and rapid death in newborns. There are no approved
treatment options for HPP or MoCD.
HPP is an ultra-rare, genetic, and life-threatening metabolic disease characterized by defective bone mineralization and
impaired phosphate and calcium regulation leading to progressive damage to multiple vital organs including destruction and
deformity of bones, profound muscle weakness, seizures, impaired renal function, and respiratory failure.1,2,3,4
The severe manifestations of the genetic deficiency in HPP affect people of all ages, and approximately 50 percent of
infants with the disease do not survive past one year of age.1
HPP is caused by a genetic deficiency of an enzyme known as tissue non-specific alkaline phosphatase (TNSALP), which
causes life-long abnormalities in metabolism of the two vital minerals calcium and phosphate, leading directly to the
debilitating morbidities and premature mortality of the disease. There are currently no therapies approved for HPP.1
Alexion is developing an investigational drug known as asfotase alfa, a first-in-class recombinant protein that addresses the
underlying cause of HPP by targeting replacement of the missing enzyme to the necessary body tissues. Asfotase alfa is designed to
normalize the genetically defective metabolic process and prevent or reverse the severe and life-threatening complications of life-long
dysregulated mineral metabolism in patients with HPP.
Learn more about HPP
Learn more about asfotase alfa
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MoCD Type A
MoCD Type A is a devastating and ultra-rare metabolic disorder affecting infants in which a genetic mutation leads to deficiency
in the molecule cPMP which is necessary to synthesize molybdenum cofactor. When a baby is born without this cofactor, a neurotoxin
called sulfite accumulates in the body, typically within days or weeks of birth. This accumulation results in uncontrollable seizures
accompanied by catastrophic brain damage, with survival only measured in weeks or months. MoCD Type A is among the rarest and most deadly
disorders that can affect a newborn, and it currently has no treatment options.
Alexion is working with research collaborators to accelerate the development of an investigational therapy that would replace the missing cPMP
in infants with MoCD Type A so that their bodies can eliminate sulfite normally. Encouraging early clinical experience with this cPMP replacement
therapy has been reported by independent investigators in Germany and Australia.5
- Mornet E. Review of Hypophosphatasia. Orphanet Journal of Rare Diseases. 2007:2:40 doi:10.1186/1750-1172-2-40. Available at: http://www.OJRD.com/content/2/1/40.
- Seshia SS, Derbyshire G, Haworth JC, Hoogstraten J. Myopathy with Hypophosphatasia. Arch Dis Child. 1990. 65(1):130-1.
- Whyte MP. Hypophosphatasia: Nature's Window on Alkaline Phosphatase Function in Humans, in Principles of Bone Biology, 3rd Ed. Part II: Molecular Mechanisms of Metabolic Bone Disease, Chapter 73: 1573-1598. Academic Press. 2008.
- Silver MM, Vilos GA, Milne KJ. Pulmonary Hypoplasia in Neonatal Hypophosphatasia. Pediatr Pathol. 1998. 8:483-493.
- Veldman A, et al. Successful treatment of molybdenum cofactor deficiency type A with cPMP Pediatrics. 2010 May;125(5):e1249-54.