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ey0018.5-2 | Novel treatments for rare skeletal disorders | ESPEYB18

5.2. Evaluation of FGFR inhibitor ASP5878 as a drug candidate for achondroplasia

Ozaki Tomonori , Kawamoto Tatsuya , Iimori Yuki , Takeshita Nobuaki , Yamagishi Yukiko , Nakamura Hiroaki , Kamohara Masazumi , Fujita Kaori , Tanahashi Masayuki , Tsumaki Noriyuki

Sci Rep. 2020 Dec 1;10(1):20915 Abstract: https://pubmed.ncbi.nlm.nih.gov/33262386/In brief: Inhibition of excessive FGFR3 signalling constitutes the key mechanism of pharmacological treatments in achondroplasia. In this pharmacokinetic and pharmacodynamic animal study, the FGFR inhibitor ASP5878 with potential oral application mode revealed beneficial effects on skeletal growth in...

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ey0016.5-9 | Clinical Advances in Treatment | ESPEYB16

5.9. Asfotase alfa for infants and young children with hypophosphatasia: 7 year outcomes of a single-arm, open-label, phase 2 extension trial

MP Whyte , JH Simmons , S Moseley , KP Fujita , N Bishop , NJ Salman , J Taylor , D Phillips , M McGinn , WH McAlister

Abstract: Lancet Diabetes Endocrinol. 2019 Feb;7(2):93105.In brief: The study reports outcomes of a single-arm 7-year phase 2 extension trial of Asfotase alfa for infants and children with life-threatening hypophosphatasia who received a median of 6·6 years of therapy. The early improvements previously reported were sustained for up to 7 years of treatment.<p class...

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ey0017.6-7 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.7. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: Bioinformatics consideration

K Hamanaka , A Takata , Y Uchiyama , S Miyatake , N Miyake , S Mitsuhashi , K Iwama , A Fujita , E Imagawa , AN Alkanaq , E Koshimizu , Y Azuma , M Nakashima , T Mizuguchi , H Saitsu , Y Wada , S Minami , Y Katoh-Fukui , Y Masunaga , M Fukami , T Hasegawa , T Ogata , N Matsumoto

To read the full abstract: Hum Mol Genet. 2019, Jul 15; 28: 231929. doi: https://academic.oup.com/hmg/article/28/14/2319/5424416This study provides evidence that MYRF is important in the development of coelomic endothelial derived cells, and early gonadal development in both males and females. It combines detailed phenotypic assessment of patients and whole geno...

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ESPE Yearbook of Paediatric Endocrinology

5.2. Evaluation of FGFR inhibitor ASP5878 as a drug candidate for achondroplasia

5.9. Asfotase alfa for infants and young children with hypophosphatasia: 7 year outcomes of a single-arm, open-label, phase 2 extension trial

6.7. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: Bioinformatics consideration

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