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ey0017.5-1 | Novel Treatments for Rare Skeletal Disorders | ESPEYB17

5.1. C-Type natriuretic peptide analogue therapy in children with achondroplasia

R Savarirayan , M Irving , CA Bacino , B Bostwick , J Charrow , V Cormier-Daire , KH Le Quan Sang , P Dickson , P Harmatz , J Phillips , N Owen , A Cherukuri , K Jayaram , GS Jeha , K Larimore , ML Chan , A Huntsman Labed , J Day , J Hoover-Fong

To read the full abstract: N Engl J Med. 2019 Jul 4;381(1):2535.In brief: Inhibition of endochondral ossification in Achondroplasia leads to disproportionate short stature. In this phase 2 study, daily subcutaneous injection of vosoritide, a biologic analogue of C-type natriuretic peptide and a potent stimulator of endochondral ossification, results in sustained increase in t...

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ey0019.15-9 | Assorted Conditions | ESPEYB19

15.9. Genetic insights into biological mechanisms governing human ovarian ageing

KS Ruth , FR Day , J Hussain , A Martinez-Marchal , CE Aiken , A Azad , DJ Thompson , et al.

Nature. 2021;596(7872):393-7. doi: 10.1038/s41586-021-03779-7.PubMed ID: 34349265Brief summary: This study analysed genome-wide association array (GWAS) data on ~200 000 women of European ancestry to identify 290 separate genetic signals associated with normal variation in age at natural menopause (ANM). Experimental alterations of key identified genes in mouse models confirmed their impac...

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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

5.1. C-Type natriuretic peptide analogue therapy in children with achondroplasia

15.9. Genetic insights into biological mechanisms governing human ovarian ageing

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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