Recently, from 6,000 to 8,000 rare diseases have been registered, of which over 1,000 are inherited metabolic diseases.
In Slovakia, a nationwide newborn screening for phenylketonuria − an inherited metabolic disease that occurred frequently in our country − has been performed over the last 40 years. Special workplaces in Bratislava, Banská Bystrica and Košice were set up to provide optimal availability of treatment for patients with phenylketonuria. Today, Inherited Metabolic Diseases Centre in Children's Faculty Hospital in Bratislava uses the laboratories at the Department of Laboratory Medicine and Molecular Genetics at the 2nd Paediatrics Department. When finalizing the diagnosis, we cooperate with the Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital in Bratislava. However, international cooperation is needed. Clinical and ambulatory care of patients with inherited metabolic diseases is in the centre distributed to the paediatric and neurological departments.
In recent years, the problem of inherited metabolic diseases has no longer been just a paediatric problem. While in past the majority of patients did not live to adulthood, today, thanks to new drugs and therapeutic procedures, it has been changed. Improving the knowledge of the pathogenesis, diagnosis and especially substitution therapy, patients can reach the age of adulthood and they can even be diagnosed in adulthood. The paper provides personal experience with the treatment of inherited metabolic diseases in Slovakia, mainly the substitution therapy.
Orphan drugs used for treatment in pediatric patients in the slovak republic
Due to the enormous success of scientific research in the field of paediatric medicine many once fatal children's diseases can now be cured. Great progress has also been achieved in the rehabilitation of disabilities. However, there is still a big group of diseases defined as rare, treatment of which has been traditionally neglected by the drug companies mainly due to unprofitability.
Since 2000 the treatment of rare diseases has been supported at the European level and in 2007 paediatric legislation was introduced. Both decisions together support treatment of rare diseases in children.
In this paper, we shortly characterise the possibilities of rare diseases treatment in children in the Slovak republic and bring the list of orphan medicine products (OMPs) with defined dosing in paediatrics, which were launched in the Slovak market. We also bring a list of OMPs with defined dosing in children, which are not available in the national market. This incentive may help in further formation of the national plan for treating rare diseases as well as improvement in treatment options and availability of rare disease treatment in children in Slovakia.
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders with mainly mild cutaneous manifestations. Some patients with NF1, however, develop severe complications such as progressive optic pathway glioma, plexiform neurofibroma or malignant peripheral nerve sheath tumour. Due to potentially progressive and asymptomatic course of the disease, patients with NF1 require a regular multidisciplinary follow-up in coordination with various specialties and early intervention. In this article, we summarise our long-term experience with multidisciplinary follow-up of NF1 patients in the Centre for Neurofibromatosis Type 1 patients at the Children's University Hospital in Bratislava.