Thelansis

  Hypophosphatasia (HPP) arises from a genetic anomaly affecting the gene responsible for encoding tissue-nonspecific isozyme of alkaline phosphatase (TNAP), resulting in a loss-of-function mutation(s). The disease presents across various stages of life, classified into perinatal, infantile, childhood, and adult HPP, along with odonto HPP and perinatal benign forms. Perinatal/immature HPP often proves fatal, characterized by severe rickets, respiratory insufficiency, hypercalcemia, and sometimes vitamin B6-responsive seizures in affected infants. The principal biochemical deficiency in HPP involves reduced TNAP activity, leading to elevated levels of substrates, particularly inorganic pyrophosphate (PPi), a potent calcification inhibitor. The clinical severity varies widely. Strensiq (asfotase alfa), an FDA-approved medication, addresses hypophosphatasia (HPP) in children. Initially sanctioned in 2015, it targets childhood-onset, juvenile-onset, and perinatal HPP. Strensiq, a rec...

  Hypophosphatasia (HPP) is the inborn error of metabolism caused by a loss-of-function mutation(s) in the gene that encodes the tissue-nonspecific isozyme of alkaline phosphatase (TNAP). The disease has been classified according to patient age when the first signs and symptoms manifest, i.e., perinatal, infantile, childhood, adult HPP. Other types include odonto HPP and perinatal benign. Babies with the perinatal/immature forms of HPP often die with severe rickets and respiratory insufficiency and sometimes hypercalcemia and vitamin B6-responsive seizures. The primary biochemical defect in HPP is a deficiency of TNAP activity that leads to elevated circulating levels of substrates, in particular inorganic pyrophosphate (PPi), a potent calcification inhibitor. The clinical severity of HPP varies greatly. The disease can be classified according to patient age when the first signs and symptoms manifest: perinatal, infantile, childhood, and adult HPP. Additional clinical forms include...

  Hypophosphatasia – Market outlook, Epidemiology, Market Forecast, and Competitive Landscape Report – 2021 To 2032