ESPE Abstracts

Background: Caregivers of patients with Bardet Biedl syndrome (BBS) face substantial burden from highly prevalent features of the disease, namely hyperphagia, or uncontrollable hunger, and obesity. However, the burden experienced by caregivers of individuals with BBS is not well characterized.Methods: A multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to quantify the burden experien...

Background: Hyperphagia, or pathologic insatiable hunger, and early-onset obesity are prevalent clinical features of Bardet-Biedl syndrome (BBS), a rare genetic disorder. While hyperphagia and obesity have broad impacts on individuals with BBS and their caregivers, the extent of this burden is not well characterized.Methods: This multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to q...

Background: Vitamin D deficiency has been associated with chronic diseases, such as diabetes mellitus, obesity and autoimmune disease. However, There are only a few studies about the correlation between Vitamin D levels and precocious puberty in girls.Objective and hypotheses: In the previous study, vitamin D levels may be associated with precocious puberty. We also aimed to re-evaluate the relationship between serum 25-hydroxyvitamin D (25(OH)D) and pre...

Introduction: Achondroplasia is caused by a pathogenic mutation in the FGFR3 gene, leading to impaired endochondral bone growth and multiple medical complications. Vosoritide, a modified recombinant human C-type natriuretic peptide (rhCNP), was approved by the European Medicines Agency (EMA) in August 2021 for treating genetically confirmed achondroplasia in patients aged ≥2 years until closure of epiphyses. Acorn is the first treatment-based registry for a...