Dissertation committee:
Εμμανουήλ Καναβάκης, Ομότιμος Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Σοφία Κίτσιου-Τζέλη, Ομότιμη Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Roser Pons, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Ιωάννα Ραχήλ Συνοδινού Traeger, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Ασπασία Τσέζου, Καθηγήτρια, Ιατρική Σχολή, Πανεπιστήμιο Θεσσαλίας
Παναγιώτα Περβανίδου, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Μαρία Τζέτη, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Summary:
Neuromuscular diseases are the focus of interest of many medical specialties due to their great heterogeneity, clinical symptoms and difficulty in their diagnosis and treatment. With the rapid development of molecular genetics there has been an explosion of knowledge on these diseases, which allowed accurate genetic diagnosis, especially for the atypical cases of the disease and ensured the better understanding of their pathophysiology. At the same time, the prompt identification of asymptomatic carriers and implementation of prenatal testing, in at least some of these diseases, has promoted prevention.
Additionally, the detection of specific genetic changes allowed the correlation of genotype with the patient’s phenotype, while laying the foundations for genetic therapeutic approaches, through the modification of the expression of pathological genes, at least for certain neuromuscular diseases. Rapid developments in the treatment of certain neuromuscular diseases in recent years has raised the expectations for a more effective treatment in the near future.
The classification and epidemiology of neuromuscular diseases presents several difficulties, mainly due to their high heterogeneity in clinical expression and etiology, with the most common clinical characteristic being muscle weakness. The purpose of this doctoral thesis is to develop and evaluate an organized program to record all hereditary cases with neuromuscular diseases, an effort being implemented for the first time in our country. Detailed collection of information in an electronic database has significant benefits for the patients and their families, the scientific community, but also the society, as a whole. More specifically, patients and their parents can be benefited from receiving information about the genetic disease, while at the same time, have the opportunity to participate in research programs and treatment protocols, as they become available.
At the same time, through the thorough recording of cases, i.e. the collection of clinical characteristics, but also their genetic details, scientific research is promoted, whilst data collection facilitates conduction of clinical studies and research treatment protocols. The ultimate goal is to have an in-depth understanding of the pathogenesis of neuromuscular diseases. Additionally, the creation of a registry may assist in the thorough information of government agencies on issues related to neuromuscular diseases, while establishing an open channel of communication between clinicians, geneticists, researchers and database participants. All these can reinforce the magnitude of the problem in Greece and can possibly lead to a more effective strategy. For this purpose, a dedicated Website and an Electronic Database were created, where data from 50 patients with Dystrophinopathy and 68 patients with Spinal Muscular Atrophy were entered, following their written consent or that of their parents, on a pilot basis. It is worth noting that these patients participated voluntarily, while they have the right to withdraw at any time they wish.
In conclusion, a patient registry can be a powerful tool for detailed monitoring of the course of the disease, the understanding of response to treatment, the investigation of the various factors that affect prognosis and quality of life of patients, and describing the standards of care for neuromuscular diseases.
Keywords:
Neuromuscular diseases, Registries, Dystrophinopathies, Spinal muscular atrophy
