ESPE Abstracts

Background: Disruption of the melanocortin-4 receptor pathway by genetic variants in POMC/PCSK1 or LEPR can result in hyperphagia and severe early-onset obesity. In the primary analyses of 2 pivotal Phase 3 trials, the melanocortin-4 receptor agonist setmelanotide was associated with significant reductions in body weight and hunger in patients with obesity due to proopiomelanocortin (POMC) or leptin receptor (LEPR) deficiency. These ...

Background: Rare genetic causes of obesity include variants in genes within the melanocortin-4 receptor (MC4R) pathway, a principal regulator of energy balance. Weight and hunger reductions following treatment with the MC4R agonist setmelanotide have been demonstrated in patients with obesity due to variants in multiple genes, including POMC, LEPR, SRC1, and SH2B1. We describe a trial design of setmelanotide in patients with addition...

Background: Variants in SH2B1 or a 220–kilobase pair distal deletion of chromosome 16p11.2, including SH2B1, are associated with severe, early-onset obesity and hyperphagia. The melanocortin-4 receptor (MC4R) agonist setmelanotide is being investigated in individuals with rare variants in genes in the MC4R pathway.Methods: This ongoing, Phase 2 study (NCT03013543) enrolled individuals aged ≥6...

Background: Rare genetic diseases of obesity can be caused by genetic variants leading to disrupted activity of the melanocortin-4 receptor pathway (MC4R). Setmelanotide, an MC4R agonist, is being investigated in a basket study of populations with rare variants in different genes in the MC4R pathway who have early-onset, severe obesity and hyperphagia.Methods: This ongoing, Phase 2, open-label study (NCT03013543) enrolle...

The gold standard for the treatment of Type 1 diabetes in children and adolescents is the intensified insulin therapy using either multiple daily injections (MDI) or continuous subcutaneous insulin infusion (CSII) pump according to the basal-bolus-principle. Blood glucose measurement is the mainstay of diabetes management, guiding insulin dosing decisions and monitoring glycemic control. New technological advances including subcutaneous continuous glucose monitoring (CGM), eit...

Global growth in the use of mobile phones, the so-called smartphones, makes them a powerful platform to help provide tailored health, delivered conveniently to patients. These devices are developing rapidly mainly with regard to information processing, design, features and connectivity with other devices. Modern treatment and monitoring of type 1 diabetes is being supported by rapid evolving technology as pumps for continuous subcutaneous insulin infusion and sensors for conti...

Background: The results of several studies suggest that vitamin D could possibly decrease the risk of autoimmune diseases.Objective: To evaluate the efficiency of the vitamin D in adolescents with Hashimoto’s thyroiditis (HT).Methods: The study included 32 adolescents (aged 12–17 years, mean age was 14.4±1.3 years) with HT (normal range TSH, fT3, fT4 and elevated antibodies). HT was diagnosed on...

Background: Self-monitoring of blood glucose is an essential tool in the optimal management of childhood and adolescent diabetes. In the last 15 years, an extraordinary development of reliable devices for real-time continuous glucose monitoring (CGM) has taken place. Meanwhile, several trials in adults and children showed that CGM can be associated with improved glycaemic control, significant reduction of hypoglycaemia and better quality of life, particularly in those patients...

Background: Congenital adiptical diabetes insipidus is rare condition in infancy. Immediate diagnosis and treatment is required to ensure normal development.Case report: A boy, from the 2nd pregnancy, 1st term delivery was born with weight 4480 g. Bottle feeding from the 1st months. Weight at 1st months – 4500 g, at 2nd – 5000 g. Until the first 2 months mother complained on child’s apathia, feeding problems, vomiting, weight stagnation. A...

Hyperglycemia in newborns is most common in premature infants. At present, in clinical practice, the attitude towards this type of metabolic disorders is not well defined and controversial.Objective: To determine the feasibility of prescribing insulin for hyperglycemia in premature newborns.Patients and Methods: We observed 68 newborns with a birth weight of 1326 ± 119.8 g and a gestational ag...