• Sat. Oct 16th, 2021

Noonan syndrome, the first liquid somatropin approved in Italy

Byeditorial

May 12, 2021

Important news for children with Noonan Syndrome, a rare genetic disease that is estimated to affect one newborn for every 1,000-2,500 live births, even if it is often not diagnosed: the liquid somatropin (growth hormone / Gh) drug (Norditropin *) of Novo Nordisk has been approved in Italy for the treatment of statural deficit secondary to the disease. The Syndrome – a note details – was first described in 1963, and is part of the family neuro-cardio-facio-cutaneous (Ncfc) syndromes known as ‘RASopathies’, which is a group of developmental diseases caused by genetic mutations that they profoundly affect embryonic development, organs, nervous system and growth. It presents various somatic manifestations that deeply affect the psychophysical development of children and the short stature is, together with the congenital heart anomaly, the most common feature. Other typical manifestations are feeding difficulties, coagulation defects, pterygium of the neck or short and wide neck, a characteristic facial appearance with drooping of the eyelids, wide-set eyes, large and posteriorly turned ears, hearing problems, chest malformations and cognitive deficits , hearing problems, cryptorchidism and scoliosis. “Noonan Syndrome presents itself clinically in a very heterogeneous way, and precisely because of the variability and different intensity of the symptoms, these are often treated in isolation without a diagnosis of the disease”, explains Marco Cappa, director of the Complex Unit of Endocrinology of the Bambino Gesù Hospital in Rome. “It is important that children receive multidisciplinary support from different specialists, some symptoms may improve normally with growth, while for others, such as delays in growth in terms of stature, which occur during childhood, it is necessary to intervene. early to allow better development and positively affect the future quality of life “continues Cappa. “Postnatal short stature is a typical feature of Noonan Syndrome, so much so that up to 70% of affected children have a significantly shorter stature. The GH / IGF-I axis, which is the complex of mechanisms that regulate secretion of growth hormone and somatomedin, is crucial for normal growth in children, which is why it is important to start growth hormone therapy as early as the prepubertal age “, adds Mohamad Maghnie, full professor of Pediatrics, head of the Pediatric Clinic and Endocrinology of the ‘Istituto Giannina Gaslini of Genoa. “Treatment with hGH has been shown to stimulate skeletal and somatic growth with an increase in the growth rate of the treated children and a pronounced influence on the body’s metabolic processes, with a reassuring safety profile long-term “he concludes. HGH therapy can begin in patients aged 4 to 5 years, and continue until the closure of growth cartilages and end of body growth. An easy-to-use injection pen was designed precisely for the age of the patients, also available in a version with a non-visible needle to make the administration more psychologically acceptable to children. “The possibility that today is offered to us to have an effective therapy such as that with growth hormone (GH) for the short stature of our children, already used in other rare conditions, as well as for early osteoporosis and to strengthen their muscles, is for us an important success “, says Isabella Tessari, president of the National Association of Noonan Syndrome and RASopathies. “We believe it is very useful that the need to have the molecular diagnosis of Noonan Syndrome is included in the note relating to the prescription of GH so that, being a condition with genetic heterogeneity, it is possible to implement a management and careful follow personalized periodic multidisciplinary up that can guarantee early identification of the onset of health problems and provide adequate therapeutic opportunities. We also hope – he concludes – that the same guidelines will soon be made for all the Reference Centers scattered throughout the territory “, he concludes. “As an association, we have been following growth hormone treatment patients since 1993, mainly children and adolescents with chronic and rare diseases characterized by growth problems” states Cinzia Sacchetti, president of AFaDOC – Association of families of individuals with growth hormone deficiency and other diseases rare. “Our main purpose is to support these patients and their families morally and psychologically, helping them to overcome the emotional impact of the diagnosis and moments of difficulty, accompanying them throughout the course of therapy with specific activities based on different needs and groups. of age “, he concludes.