ESPE Abstracts

In a randomized open-label phase 3 trial in 62 children (1–12 years) with X-linked hypophosphatemia (XLH) (NCT 02915705), switching from conventional therapy (oral phosphate plus active vitamin D) to burosumab, a monoclonal antibody targeting fibroblast growth factor 23, significantly improved serum phosphate concentration, rickets, lower-extremity deformities, growth, mobility, and patient-reported outcomes (PROs) at 64 weeks. Children in Europe, USA, Canada, and Australia wh...

Type 1 diabetes (T1D) is a chronic disease characterized by the autoimmune destruction of pancreatic β cells. This destruction is mediated by lymphocytes T helper and cytotoxic, and by the action of the pro-inflammatory cytokines IL1β, IFNγ and TNFa inside the islets of Langerhans. We propose a new approach to alleviate islet inflammation by targeting pro-inflammatory cytokine receptors. Our hypothesis is that the downregulation of inflammatory pathways ma...

Presently, the autoimmune character of T1D is challenged, but it is indisputable that inflammation plays a key role in its development. We hypothesized that glucotoxicity could contribute to β-cell mass destruction through maintenance of inflammation. Here, we aimed to evaluate, after diabetes onset, the potential of empagliflozin (EMPA) to protect β-cell mass against glucotoxicity, in monotherapy or in association with GABA, tested for its potential to increas...

Background: Pancreatic epithelial cells represent an attractive cell source for replacement therapy of type 1 diabetes. Previously, we designed a protocol for expansion of human pancreatic duct-derived cells (HDDCs) and showed their β-cell engineering potential.Objective and hypotheses: In this study, we reprogrammed HDDCs into β-cell-like lineage by over-expressing mRNAs of key pancreatic transcription factors (TFs).Meth...

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...

Background: What initiates pubertal process in humans and other mammals has remained elusive.Objective and hypotheses: We hypothesize that gene(s), whose products trigger the GnRH pulse generator to restart ticking at the usual time of puberty, can be identified via autozygosity mapping together with whole exome sequencing in patients with idiopathic hypogonadotrophic hypogonadism (IHH).Method: We studied a cohort IHH cases. Functi...