ESPE Abstracts

Background: Severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare condition for which replacement therapy with recombinant human insulin-like growth factor-1 (rhIGF 1; mecasermin [Increlex®]) is approved for treatment in Europe and the USA. SPIGFD is defined as a height standard deviation score (HtSDS) ≤-3, and baseline IGF-1 <2.5th percentile (European indication) or ≤-3 SDS (USA indication) for age and gender, desp...

Congenital hyperinsulinism (CHI) is a complex heterogeneous disease affecting 1 in 40.000 newborns. Recurrent hypoketotic hypoglycaemia led to permanent mental and motor disabilities in 30-40% of children. Histologically three types had been differentiated: focal, diffuse and atypical. Up to now, only focal-type CHI can be permanently cured by focus removal. Focal-type CHI is characterized by paternal inherited mutation of ABCC8 or KCNJ11 mutations. Therefore mutation anal...

Background: In Europe, Increlex® (mecasermin) is approved for treatment of growth failure in children with severe primary insulin-like growth factor-1 deficiency (SPIGFD). We present 10-year data (up to October 2018) from the European Increlex® Growth Forum Database (EU-IGFD) registry (NCT00903110) on the frequency, predictive factors, and the potential impact of hypoglycaemia on efficacy outcomes....

Background: In the European Union, Increlex® (mecasermin) is approved for the treatment of growth failure in children with severe primary insulin-like growth factor-1 deficiency (SPIGFD).Methods: The European Increlex® Growth Forum Database (EU-IGFD) registry (NCT00903110) is an ongoing, multicentre, open-label, observational study monitoring the safety and efficacy of mecasermin in childr...

Objectives: Limited information is available on how very young children with growth hormone deficiency (GHD) respond to growth hormone (GH) replacement. We compared response to 1 year of GH therapy in children aged <2 years and prepubertal children aged ≥2 years.Methods: The two non-interventional, multicentre studies, NordiNet® International Outcome Study (IOS) (NCT00960128) and the ANSWER Prog...

Introduction / aim: Neonatal diabetes owned to potassium channel mutation can be successfully treated by sulfonylureas (SU). No study has reported SU efficiency according to the genotype.Method: Review of literature conducted in accordance with the control criteria of Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA). Search engine used: PubMed and the Cochrane Library database. Selection of clinical report, case reviews and met...

Background: NordiNet® International Outcome Study ([IOS]; NCT00960128), a non-interventional study (2006–2016), assessed the effectiveness and safety of real-world treatment with Norditropin®. Outcomes were assessed in children with growth hormone deficiency (GHD), born small for gestational age (SGA), Turner syndrome (TS), chronic renal disease (CRD), idiopathic short stature (ISS), Noonan syndrome (NS) and Prader-Willi syndrome (PWS)....

Background: Traumatic brain injury (TBI) is common in childhood and can induce pituitary defects. Long-term endocrine consequences are missing.Objective and hypotheses: To determine in a prospective way if pediatric patients with a personal history of TBI developed long term pituitary deficiency independently of the results of the early hormonal investigation.Method: Prospective follow-up of an initial cohort of subjects (0–15...

Background: Congenital hyperinsulinism (CHI) is a rare disease mostly due to loss-of-function mutations of the ABCC8 or KCNJ11 genes, encoding the two subunits of the KATP channel. Gain-of-function mutations in glutamate dehydrogenase 1, encoded by the GLUD1 gene, are the second most common cause of CHI.Objective and hypotheses: The majority of patients with a GLUD1 CHI respond to diazoxide, but little is kn...

Background: PATRO Children is an international, open, longitudinal, non-interventional study of the long-term safety and efficacy of Omnitrope®, a biosimilar recombinant human GH (rhGH).Objective and hypotheses: The primary objective of PATRO Children is to assess long-term safety of Omnitrope® (particularly the diabetogenic potential of GH in short children born small for gestational age, the risk of malignancies, and oth...