I am a
Home I AM A Search Login

Papers of the Week

2022 Jul 19

Orphanet J Rare Dis



Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry.


Dahir KM, Seefried L, Kishnani PS, Petryk A, Högler W, Linglart A, Martos-Moreno G Á, Ozono K, Fang S, Rockman-Greenberg C
Orphanet J Rare Dis. 2022 Jul 19; 17(1):277.
PMID: 35854311.


The clinical signs and symptoms of hypophosphatasia (HPP) can manifest during any stage of life. The age at which a patient's symptoms are reported can impact access to targeted treatment with enzyme replacement therapy (asfotase alfa), as this treatment is indicated for patients with pediatric-onset HPP in most countries. As such, many patients reported to have adult-onset HPP typically do not receive treatment. Comparison of the disease in treated and untreated adult patients is confounded by the approved indication. To avoid this confounding factor, a comparison between baseline disease manifestations prominent among treated versus untreated adult patients was limited to those with pediatric-onset HPP using data collected from the Global HPP Registry. The hypothesis was that treated adults will have a greater disease burden at baseline than untreated adults. The analysis of disease manifestations in adults with adult-onset HPP was conducted separately.