Searchable abstracts of presentations at key conferences on calcified tissues

ba0007is16 | (1) | ICCBH2019

Current care and new therapeutic approaches to achondroplasia

Namba Noriyuki

Achondroplasia is the most common form of short-limbed dwarfism with a frequency of 1 in 10,000 to 30,000 births. Although it can be inherited in a autosomal dominant manner, 80% of the cases are sporadic. Achondroplasia is classified as one of the FGFR3 chondrodysplasias and more than 97% occur from an activating mutation at residue 380 (p.R380G) of the FGFR3 gene. Current treatment of achondroplasia is mainly directed at prevention and treatment of its complications (obstruc...

ba0004p11 | (1) | ICCBH2015

Effects of bisphosphonate for the development of scoliosis in children with osteogenesis imperfecta

Kashii Masafumi , Kanayama Sadaaki , Kitaoka Taichi , Makino Takahiro , Kaito Takashi , Kubota Takuo , Namba Noriyuki , Yamamoto Takehisa , Ozono Keiichi , Yoshikawa Hideki

Backgrounds: Osteogenesis imperfecta (OI) is an inherited bone disease caused by qualitative or quantitative defects in type I collagen, and is characterized by bone fragility and ligamentous laxity. Spine disorder is an important symptom in children with OI, and respiratory difficulties secondary to spinal disorder were identified as a main cause of death in these patients. Reduced fracture rates and prevention of long-bone deformities have been reported in children with OI w...

ba0004p16 | (1) | ICCBH2015

Genotype in patients with osteogenesis imperfecta using a targeted exome sequencing: correlation with phenotype

Kubota Takuo , Ohata Yasuhisa , Bizaoui-Auffret Varoona , Nawa Nobutoshi , Nakayama Hirofumi , Yamamoto Keiko , Fujiwara Makoto , Kitaoka Taichi , Takakuwa Satoshi , Namba Noriyuki , Ozono Keiichi

Objectives: Osteogenesis imperfecta (OI) is a relatively common skeletal dysplasia characterized by bone fragility, mainly resulting from mutations in the COL1A1 and COL1A2 genes. Phenotype–genotype correlation is not fully uncovered in OI. Additionally, more than ten genes have been found to be responsible for OI. In the current study, we determine mutations in patients with OI using a targeted exome sequencing and examine a phenotype–genotype correlation.<p cla...

ba0007p153 | (1) | ICCBH2019

Long-term growth hormone treatment alters glucose metabolism in achondroplasia

Harada Daisuke , Kashiwagi Hiroko , Ueyama Kaoru , Oriyama Kyoko , Hanioka Yuki , Sakamoto Natsuko , Kondo Masafumi Izui Kawai , Nagamatsu Yuiko , Yamada Hiroyuki , Seino Yoshiki , Namba Noriyuki

Objective: To investigate the effect of growth hormone (GH) treatment on glucose metabolism in achondroplasia (ACH) patients.Patients and methods: Twenty-five GH-treated (0.35 mg/kg/week) ACH patients (10 males and 15 females) were included in this study. Oral glucose tolerance test (OGTT) was performed at three time points; ‘pre-treatment’ (age: 4.0±1.9 years), ‘post short-term treatment’ (age: 6.5±3.0 years), and ‘pos...

ba0007oc14 | (1) | ICCBH2019

Burosumab resulted in greater improvement in clinical outcomes than continuation with conventional therapy in younger (1-4 years-old) and older (5-12 years-old) children with X-linked hypophosphatemia

Ward Leanne , Imel Erik , Whyte Michael , Munns Craig , Portale Anthony , Hogler Wolfgang , Simmons Jill , Padidela Raja , Namba Noriyuki , Cheong Hae , Nilsson Ola , Mao Meng , Skrinar Alison , Chen Chao-Yin , Martin Javier San , Glorieux Francis

Objective: We compared the efficacy and safety of burosumab, a monoclonal antibody against FGF23, to conventional therapy [oral phosphate and active vitamin D (Pi/D)] in children with X-linked hypophosphatemia (XLH).Methods: In this Phase 3 trial (NCT02915705), 61 children with XLH (1-12 years-old) were randomized 1:1 after a 7-day Pi/D washout to receive burosumab starting at 0.8 mg/kg SC Q2W or reinitiate Pi/D optimally titrated by investigators. Eligi...