Searchable abstracts of presentations at key conferences on calcified tissues

ba0004is18 | (1) (1) | ICCBH2015

Management of sclerosing bone disease

Whyte Michael P

Many disorders cause osteosclerosis, and many exclusively affect adults. Pediatricians are likely to encounter those that are Mendelian diseases, with most still classified as ‘dysplasias’ although now understood at the gene level. Thus, there is promise for defining their molecular and biochemical pathogeneses, and for developing targeted medical treatments. Sclerosing bone dysplasias too have become the ‘turf’ of the metabolic bone disease specialist. How...

ba0004is18biog | (1) (1) | ICCBH2015

Management of sclerosing bone disease

Whyte Michael P

Biographical DetailsMichael P Whyte is Professor of Medicine, Pediatrics, and Genetics at the Washington University School of Medicine, a staff member of Barnes-Jewish Hospital and St. Louis Children’s Hospital, and Medical-Scientific Director at the Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children in St. Louis, Missouri, USA.<p class="abst...

ba0006oc23 | (1) | ICCBH2017

Sustained radiographic and functional improvements with asfotase alfa treatment from up to 7 years in children with hypophosphatasia

Whyte Michael P. , Rockman-Greenberg Cheryl , Moseley Scott , Denker Andrew E. , McAlister William H.

Objective: Children with hypophosphatasia (HPP) treated with asfotase alfa in a Phase 2 study (NCT00952484) and its open-label extension (NCT01203826) experienced significant improvements in skeletal mineralization and physical function that were sustained through 5 years of treatment (1). Herein, we report data from these studies with a maximum of 7 years of treatment.Methods: Children with HPP aged 6–12 years at baseline received asfotase alfa (3 ...

ba0006oc25 | (1) | ICCBH2017

Biochemical and physical function outcomes after 5 years of treatment with asfotase alfa in adolescents and adults with hypophosphatasia: phase 2 study results

Kishnani Priya S. , Rockman-Greenberg Cheryl , Denker Andrew E. , Moseley Scott , Whyte Michael P.

Objective: To evaluate safety and efficacy after 5 years of treatment with asfotase alfa in adolescents and adults with hypophosphatasia (HPP) in a Phase 2, open-label, randomized, dose-ranging study (NCT01163149).Methods: Treatment with subcutaneous asfotase alfa 0.3 or 0.5 mg/kg per d was compared with no treatment (control) for 6 months in patients aged 13–66 years. After 6 months, all patients (treatment and control groups) received active treat...

ba0007p77 | (1) | ICCBH2019

Long-term efficacy profile of asfotase alfa in the treatment of patients with hypophosphatasia: a pooled analysis

Hogler Wolfgang , Rockman-Greenberg Cheryl , Petryk Anna , Zhou Shanggen , Whyte Michael P , Bishop Nick

Objectives: Asfotase alfa (AA), an enzyme replacement therapy, is the only approved medical treatment for pediatric-onset hypophosphatasia (HPP), which is caused by deficient tissue-nonspecific alkaline phosphatase activity. We detail the long-term efficacy of AA observed from the pediatric clinical trial program.Methods: Efficacy data collected to study completion were pooled from 3 open-label, multicenter investigations of children who manifested HPP s...

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...

ba0006p063 | (1) | ICCBH2017

Effects of KRN23, a fully human anti-FGF23 monoclonal antibody, on functional outcomes in children with X-linked hypophosphatemia (XLH): results from a randomized, open-label Phase 2 study

Imel Erik , Carpenter Thomas , Linglart Agnes , Boot Annemieke , Hogler Wolfgang , Padidela Raja , van't Hoff William , Portale Anthony , Mao Meng , Skrinar Alison , San Martin Javier , Whyte Michael P

Objectives: In XLH, musculoskeletal outcomes of current treatment with oral phosphate (Pi)/active vitamin D are suboptimal for many patients. In a Phase 2, open-label study, we tested the hypothesis that KRN23 improves rickets and functional outcomes in XLH children.Methods: Fifty-two children with XLH (ages 5–12 years at baseline) received KRN23 subcutaneously biweekly (Q2W) or monthly (Q4W). At study entry, most participants had received oral Pi/a...

ba0007p76 | (1) | ICCBH2019

Safety profile of asfotase alfa treatment of patients with hypophosphatasia: a pooled analysis

Whyte Michael P , Bishop Nick , Hasan Jawad , Hofmann Christine , Hogler Wolfgang , Rockman-Greenberg Cheryl , Sena Veruska , Zhou Shanggen , Kishnani Priya S

Objectives: Asfotase alfa (AA), an enzyme replacement therapy, is the only approved treatment for pediatric-onset hypophosphatasia (HPP). We evaluated the safety profile of AA from the clinical trial program spanning pediatric and adult patients.Methods: Safety data were pooled from 4 open-label, multicenter studies in children aged ≤3 years (study 002/003 [NCT00744042/NCT01205152]; n=11) and ≤5 years (study 010-10 [NCT01176266]; <em...