hrp0082p3-d3-690 | Bone (2) | ESPE2014

Prospective Evaluation of Bone Mineralization, PTH Regulation, and Metabolic Profile in Adult Patients with Hereditary Hypophosphatemic Rickets

Boros Emese , Rothenbuhler Anya , Haidar Hazar , Prie Dominique , Harvengt Pol , Vija Lavinia , Brailly-Tabard Sylvie , Chanson Philippe , Linglart Agnes , Kamenicky Peter

Background: Hereditary hypophosphatemic rickets (HHR) is a rare genetic disease characterized by renal phosphate wasting, caused by elevated circulating FGF23. Despite the current available treatment complications include short stature, hyperparathyroidism, pseudofractures, bone pain, bone demineralization and osteoporosis, nephrocalcinosis and enthesopathies. Elevated circulating FGF23 was recently involved in glucose metabolism and cardiovascular function.<p class="abste...

hrp0084p3-655 | Bone | ESPE2015

A Longitudinal, Prospective, Long-Term Registry of Patients with Hypophosphatasia

Linglart Agnes , Hogler Wolfgang , Langman Craig , Mornet Etienne , Ozono Keiichi , Rockman-Greenberg Cheryl , Seefried Lothar , Bedrosian Camille , Fujita Kenji P , Cole Alex , Kishnani Priya

Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterised by bone mineralisation defects and osteomalacia, and systemic manifestations, including seizures, respiratory insufficiency, muscle weakness, nephrocalcinosis, and pain. The biochemical hallmark of HPP is low serum alkaline phosphatase activity, resulting from loss-of-function mutations in the gene encoding tissue non-specific alkaline phosphatase. HPP presents a broad spectrum of disease s...

hrp0094p1-12 | Bone A | ESPE2021

Real-world clinical profiles of children with hypophosphatasia (HPP) from the Global HPP Registry

Martos-Moreno Gabriel , Linglart Agnes , Petryk Anna , Kishnani Priya , Rockman-Greenberg Cheryl , Dahir Kathryn , Seefried Lothar , Fang Shona , Ozono Keiichi , Hogler Wolfgang ,

Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by deficient activity of tissue non-specific alkaline phosphatase (TNSALP). In children, HPP has a heterogeneous clinical presentation, frequently with nonspecific musculoskeletal and systemic manifestations, often leading to misdiagnoses and substantial delays in diagnosis. Data from 323 children with confirmed HPP diagnosis (aged <18 years, ALP activity below the reference range and/or ALPL mut...

hrp0095fc2.6 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Pseudohypoparathyroidism Type 1A (PHP1A): Growth patterns under growth hormone therapy for short stature

Ertl Diana-Alexandra , Mantovani Giovanna , Perez de Nanclares Guiomar , Gleiss Andreas , Hanna Patrick , Marta Elli Francesca , Pereda Arrate , Rothenbuhler Anya , Audrain Christelle , Berkenou Jugurtha , Linglart Agnes

Background: Pseudohypoparathyroidism 1A, newly classified as inactivating PTH/PTHrP signaling disorder type 2 (iPPSD2), is defined by resistance to parathyroid hormone, short stature and early-onset obesity. Short stature is caused by skeletal dysplasia and additionally, in some cases, also by the coexistence of growth hormone deficiency, as other hormonal resistances might be present (e.g. thyroid-stimulating hormone, growth hormone releasing hormone (GHRH), ...

hrp0086fc2.6 | Bone &amp; Mineral Metabolism | ESPE2016

Effect of KRN23, a Fully Human Anti-FGF23 Monoclonal Antibody, on Rickets in Children with X-linked Hypophosphatemia (XLH): 40-week Interim Results from a Randomized, Open-label Phase 2 Study

Linglart Agnes , Carpenter Thomas , Imel Erik , Boot Annemieke , Hogler Wolfgang , Padidela Raja , van't Hoff William , Whyte Michael , Chen Chao-Yin , Skrinar Alison , Agarwal Sunil , Martin Javier San , Portale Anthony

Background: In XLH, high circulating FGF23 causes hypophosphatemia, rickets, and short stature.Objective and hypotheses: To evaluate KRN23 effects on serum phosphate (Pi) level and rickets severity in XLH children in a Phase 2 study.Method: 52 XLH children (ages 5–12 years, ≤Tanner 2) received KRN23 subcutaneously biweekly (Q2W) or monthly (Q4W). Serum Pi was measured at 2-week intervals. KRN23 dose was titrated (maximum...

hrp0082p2-d3-310 | Bone (2) | ESPE2014

Outcomes of Vitamin D Analogues and Phosphate Supplements in Patients With Hereditary Hypophosphatemic Rickets , Comparison With Non-Treated Patients

Boros Emese , Rothenbuhler Anya , Heinrichs Claudine , Brachet Cecile , Esterle Laure , Kamenicky Peter , Harvengt Pol , Brailly-Tabard Sylvie , Haidar Hazar , Gaucher Celine , Silve Caroline , Gossiome Charles , Wicart Philippe , Duplan Martin Biosse , Courson Frederic , Chaussain Catherine , Linglart Agnes

Background: Hereditary Hypophosphatemic Rickets (HHR) is caused by persistently elevated FGF23 resulting in renal phosphate wasting and decreased 25 vitamin D hydroxylation. Treatment with vitamin D analogues (VDA) has been added to phosphate supplements in the late seventies.Objective and hypotheses: Our objective was to evaluate the outcomes of VDA and phosphate supplements in adult patients with HHR in comparison with patients who did not receive VDA ...

hrp0094p1-58 | Bone B | ESPE2021

AAV liver gene therapy-mediated inhibition of FGF23 signaling as a therapeutic strategy for X-linked hypophosphatemia

Zhukouskaya Volha , Jauze Louisa , Charles Severine , Leborgne Christian , Hilliquin Stephane , Sadoine Jeremy , Slimani Lotfi , Baroukh Brigitte , Wittenberghe Laetitia van , Daniele Natalie , Rajas Fabienne , Linglart Agnes , Mingozzi Federico , Chaussain Catherine , Bardet Claire , Ronzitti Giuseppe ,

Adeno-associated virus (AAV) gene therapy reached the maturity and a liver-targeting approach is currently used as a replacement treatment for rare hepatic and muscular diseases. X-linked hypophosphatemia (XLH) is a rare disease associated with hyperfunction of fibroblast growth factor 23 (FGF23) in bone and characterized by severe skeletal deformities and short stature. The current medical therapies for XLH requires life-long repeated treatment presenting major limitatio...

hrp0094p1-138 | Growth Hormone and IGFs A | ESPE2021

Safety and effectiveness of pediatric growth hormone therapy: Results from the full cohort in KIGS

Maghnie Mohamad , Ranke Michael B , Geffner Mitchell E , Vlachopapadopoulou Elpis , Dorr Helmuth G , Wikland Kerstin Albertsson , Ibanez Lourdes , Carlsson Martin , Cutfield Wayne , Rooman Raoul , Gomez Roy , Wajnrajch Michael P , Linglart Agnes , Stawerska Renata , Polak Michel , Grimberg Adda ,

Objective: KIGS (Pfizer International Growth Survey) was a large, international database of pediatric patients who received recombinant human growth hormone (rhGH) as prescribed in real-world clinical settings. This analysis evaluated the long-term safety and efficacy data from all participants until KIGS close in 2012.Methods: Children with growth disorders and treated with rhGH (Genotropin® [somatropin]...

hrp0094p2-98 | Bone, growth plate and mineral metabolism | ESPE2021

BUR-CL207: An Open-label, Multicenter, Non-randomized Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Pediatric Patients from Birth to Less than 1 Year of Age with XLH.

Padidela Raja , Cheung Moira , Allgrove Jeremy , Bacchetta Justine , Semler Oliver , Heubner Angela , Schnabel Dirk , Emma Franceso , Nilsson Ola , Hogler Wolfgang , De La Cerda Ojeda Francisco , Quattrocchi Emilia , Linglart Agnes ,

Background: X-linked hypophosphatemia (XLH) is caused by mutations in PHEX which increases serum Fibroblast Growth Factor 23 (FGF23) concentrations leading to phosphate wasting and osteomalacia. Burosumab is a recombinant fully human IgG1 monoclonal antibody which selectively inhibits the activity of FGF23. In clinical trials burosumab demonstrated significant clinical improvements in radiological rickets severity, growth, and biochemistry among XLH c...

hrp0086fc2.2 | Bone &amp; Mineral Metabolism | ESPE2016

From Pseudohypoparathyroidism to Inactivating PTH/PTHrP Signaling Disorder (iPPSD), a Novel Classification Proposed by the European EuroPHP-Network

Thiele Susanne , Mantovani Giovanna , Barlier Anne , Bordogna Paola , Elli Francesca M , Freson Kathleen , Garin Intza , Grybek Virginie , Hanna Patrick , Izzi Benedetta , Hiort Olaf , Lecumberri Beatriz , Pereda Arrate , de Sanctis Luisa , Silve Caroline , Turan Serap , Usardi Alessia , Saraff Vrinda , de Nanclares Guiomar Perez , Linglart Agnes

Background: Disorders related to an impairment in parathyroid hormone (PTH) signaling pathway are historically classified under the term pseudohypoparathyroidism (PHP), that now encompasses rare, related but highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and an in vitro assay of Gs&#9...