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ey0019.5-11 | Translational highlights | ESPEYB19

5.11. A reference range for plasma levels of inorganic pyrophosphate in children using the ATP sulfurylase method

E Bernhard , Y Nitschke , G Khursigara , Y Sabbagh , Y Wang , F Rutsch

J Clin Endocrinol Metab. 2022 Jan 1;107(1):109-118.Abstract: https://pubmed-ncbi-nlm-nih-gov/34498693/In Brief: This study established a standard range of Inorganic Pyrophosphate (PPi) between 2.36 and 4.44 µM (5th-95th percentiles) in the blood plasma of children and adolescents aged 0 to 18 years, using the ATP sulfurylase assay. There was no sex difference and the range is similar t...

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ey0019.5-7 | Advances in clinical practice | ESPEYB19

5.7. Ectopic calcification and hypophosphatemic rickets: natural history of ENPP1 and ABCC6 deficiencies

CR Ferreira , K Kintzinger , ME Hackbarth , U Botschen , Y Nitschke , MZ Mughal , G Baujat , D Schnabel , E Yuen , WA Gahl , RI Gafni , Q Liu , P Huertas , G Khursigara , F Rutsch

J Bone Miner Res. 2021 Nov;36(11):2193-2202Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34355424/In brief: Generalised arterial calcification of infancy (GACI) is clinically and genetically a heterogeneous disorder caused by mutations in ENPP1or ABCC6 variants. This multicentre study identified early mortality risk in GACI patients despite atte...

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ey0019.5-3 | Novel treatments for rare skeletal disorders | ESPEYB19

5.3. Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study

R Savarirayan , L Tofts , M Irving , WR Wilcox , CA Bacino , J Hoover-Fong , RU Font , P Harmatz , F Rutsch , MB Bober , LE Polgreen , I Ginebreda , K Mohnike , J Charrow , D Hoernschemeyer , K Ozono , Y Alanay , P Arundel , Y Kotani , N Yasui , KK White , HM Saal , A Leiva-Gea , F Luna-Gonzalez , H Mochizuki , D Basel , DM Porco , K Jayaram , E Fisheleva , A Huntsman-Labed , JRS Day

Genet Med. 2021 Dec;23(12):2443-2447.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34341520/In brief: In achondroplasia, longitudinal bone growth is inhibited resulting in severe, disproportionate short stature. In this open-label extension study of participants from the phase 3 study, daily subcutaneous injection of vosoritide during 104 weeks resulted in increa...

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ey0018.5-1 | Novel treatments for rare skeletal disorders | ESPEYB18

5.1. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

R Savarirayan , L Tofts , M Irving , W Wilcox , CA Bacino , J Hoover-Fong , R Ullot Font , P Harmatz , F Rutsch , MB Bober , LE Polgreen , I Ginebreda , K Mohnike , J Charrow , D Hoernschemeyer , K Ozono , Y Alanay , P Arundel , S Kagami , N Yasui , KK White , HM Saal , A Leiva-Gea , F Luna-Gonzalez , H Mochizuki , D Basel , DM Porco , K Jayaram , E Fisheleva , A Huntsman-Labed , J Day

Lancet. 2020 Sep 5;396(10252):684692. Abstract: https://pubmed.ncbi.nlm.nih.gov/32891212/In brief: Activating mutations in FGFR3 inhibit endochondral ossification in achondroplasia resulting in disproportionate extreme short stature. In this randomised, double-blind, phase 3, placebo-controlled trial, once-daily subcutaneous treatment with vosoritide, a C-type natriuretic pep...

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ESPE Yearbook of Paediatric Endocrinology

5.11. A reference range for plasma levels of inorganic pyrophosphate in children using the ATP sulfurylase method

5.7. Ectopic calcification and hypophosphatemic rickets: natural history of ENPP1 and ABCC6 deficiencies

5.3. Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study

5.1. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

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