Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia [PDF]
Journal of Clinical Endocrinology and Metabolism, 2016 Hypophosphatasia (HPP) is an inborn error of metabolism that, in its most severe perinatal and infantile forms, results in 50-100% mortality, typically from respiratory complications.Our objective was to better understand the effect of treatment with asfotase alfa, a first-in-class enzyme replacement therapy, on mortality in neonates and infants with ...
Michael P Whyte +2 more
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JBMR Plus, 2021 Treatment with asfotase alfa has transformed the prognosis of hypophosphatasia in children and improves the bone and muscle signs in adults. The doses used in adults are the same as in children, whereas bone remodeling is different between them.
Michel Laroche +6 more
doaj +2 more sources
Asfotase alfa improved skeletal mineralization and fracture healing in a child with MCAHS. [PDF]
Bone, 2023 Tissue non-specific alkaline phosphatase (TNSALP) is an enzyme that is tethered to the cell membrane by glycosylphosphatidylinositol (GPI) and converts inorganic pyrophosphate to inorganic phosphate. Inorganic phosphate combines with calcium to form hydroxyapatite, the main mineral in the skeleton.
Kang M, Wu M, Crane JL.
europepmc +3 more sources
A Rare Case of Perinatal Hypophosphatasia Treated With Asfotase Alfa [PDF]
J Endocr Soc, 2021 Abstract Background: Perinatal Hypophosphatasia (HPP) is a rare and lethal disorder associated with a 50–100% mortality rate, usually due to respiratory complications. HPP occurs due to a loss-of-function mutation in the ALPL gene, responsible for the function of tissue-nonspecific alkaline phosphatase (TNSALP).
Srivastava P +4 more
europepmc +3 more sources
THU460 A Case Series Of Hypophosphatasia: Presentation And Response To Asfotase Alfa [PDF]
J Endocr Soc, 2023 Abstract Disclosure: F. Alsarraf: None. D.S. Ali: None. K. Almonaei: None. H. Al-Alwani: None. M. Brandi: Consulting Fee; Self; Aboca, Alexion Pharmaceuticals, Inc., Amolyt, Bruno Farmaceutici, Calcilytix, Kyowa Kirin, UCB. Grant Recipient; Self; Abiogen, Alexion Pharmaceuticals, Inc., Amgen Inc, Bruno Farmaceutici, Echolight, Eli Lilly &
Alsarraf, Farah +5 more
europepmc +2 more sources
Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials [PDF]
Molecular Genetics and Metabolism Reports, 2020 Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene.
Hitomi Nishizawa +8 more
doaj +3 more sources
Odontohypophosphatasia treated with asfotase alfa enzyme replacement therapy in a toddler: a case report. [PDF]
Clin Pediatr Endocrinol, 2020 Hypophosphatasia (HPP) is a rare skeletal disorder caused by loss-of-function mutations in Alkaline Phosphatase, Biomineralization associated (ALPL) gene that encodes tissue-nonspecific alkaline phosphatase. Odontohypophosphatasia (odonto-HPP), a mild form of HPP, is characterized only by oral manifestations including premature exfoliation of deciduous
Takagi M +7 more
europepmc +4 more sources
Orphanet Journal of Rare Diseases, 2018 Background Hypophosphatasia (HPP) is a rare, heterogeneous disease caused by low tissue-nonspecific alkaline phosphatase activity and associated with a range of signs and symptoms, including bone mineralization defects, respiratory problems, seizures ...
Anjali B. Daniel +5 more
doaj +2 more sources
Bone turnover and mineral metabolism in adult patients with hypophosphatasia treated with asfotase alfa. [PDF]
Osteoporos Int, 2021 Summary There is limited understanding of how asfotase alfa affects mineral metabolism and bone turnover in adults with pediatric-onset hypophosphatasia.
Seefried L, Rak D, Petryk A, Genest F.
europepmc +2 more sources
HYPOPHOSPHATASIA IN ADULTS: CLINICAL CASES AND LITERATURE REVIEW
Остеопороз и остеопатии, 2015 Hypophosphatasia is a rare inborn error of metabolism caused by mutations in the gene encoding tissue-nonspecific isoenzyme of alkaline phosphatase. Inexpressive clinical picture of the disease in adults is often difficult to diagnose.
S S Rodionova +4 more
doaj +3 more sources