Searchable abstracts of presentations at key conferences on calcified tissues

ba0006oc24 | (1) | ICCBH2017

KRN23 effects on phosphate and vitamin D dysregulation in children <5 years old with X-Linked Hypophosphatemia (XLH)

Imel Erik , Carpenter Thomas , Gottesman Gary S , Martin Javier San , Mao Meng , Skrinar Alison , Whyte Michael P

Objectives: XLH features renal phosphate (Pi) wasting, hypophosphatemia, rickets, and skeletal deformities from elevated circulating levels of fibroblast growth factor 23 (FGF23). KRN23, an investigational fully human monoclonal antibody, binds FGF23 and inhibits its action. Our Phase 2 study of KRN23 in XLH children (ages 5–12 years) is demonstrating improvements in serum Pi and rickets. Here we present our Phase 2 trial evaluating the efficacy and safety of KRN23 in you...

ba0004p97 | (1) | ICCBH2015

Dysosteosclerosis from a unique mutation in SLC29A3

Turan Serap , Mumm Steven , Gottesman Gary S , Abali Saygin , Serpil Bas , Atay Zeynep , William H McAlister , Whyte Michael P , *Dr. Turan and Dr. Mumm contributed equally to this work

Dysosteosclerosis (DSS) is the rare osteopetrosis (OPT) distinguished by metaphyseal osteosclerosis with relative radiolucency of widened diaphyses and platyspondyly. In 2012, mutations in the SLC29A3 gene were discovered to cause DSS.Here, we report a new case of DSS presenting with severe anemia and having a unique homozygous mutation in SLC29A3.Our patient was the 3rd child of consanguineous Turkish parents. She present...