ASSOCIAZIONE ANGELMAN FUNDS THE CREATION OF THE ANGELMAN SYNDROME ITALIAN REGISTRY
The Registry will be created in collaboration with Fondazione From and its operations manager Eleonora Sfreddo at the Papa Giovanni XXIII hospital in Bergamo. It will collect data about Italian patients affected by the Syndrome, thanks to the voluntary participation of parents and caregivers.
This is the first project of its kind in Italy. It will provide a precious tool to unveil the true number and stories of patients affected by this rare disease, to share the most advanced research strategies and, hopefully, to identify new therapeutic approaches.
The main aim of the Registry is to record, also here in Italy, anagraphic, genetic and clinical data on children and adults suffering from the disease -using standardised and homogeneous criteria in line with those used internationally- and to make them available to the researchers who are studying new therapeutics.
Other important expected goals are the following: the Registry will grant a better understanding of the natural course of the disease and of the impact the Syndrome has throughout the patient’s life; it will lead to the production of new studies and inform families and caregivers of the patients on the progress in research, particularly for what concerns new available therapies. This initiative will have a significant impact on a territorial level as well, encouraging the creation of facilities for the study of the disease.
The Registry will be active starting from February 2018, in the occasion of the World Angelman Day.
The project will be of international scope. The precious cooperation with professor Ype Elgersma and doctor Marie-Claire de Wit of the Erasmus Medical Center (EMC) in Rotterdam, leading hospital and research centre for the study and treatment of the Syndrome, add to the scientific value of the project itself.
The agreement between Associazione Angelman and From was sealed last August. Communication initiatives will be promoted by the end of 2017 to inform and involve families and caretakers of the patients. A fund-raising campaign will also support the project financially, involving private and public actors.
Why is it important to have a national registry?
At the moment there is no complete and detailed picture of the number of Italian patients affected by the Syndrome and on their clinical conditions.
Carlo Nicora, From chairman and executive director of the ASST Papa Giovanni XXIII: “There can be no research without a collection of data which is significant in number and in the possibility to be analysed. This is why the creation of a database is the first, fundamental step to increase knowledge of the disease and to support clinical, epidemiological and basic medical research”.
Luca Patelli chairman of the Associazione Angelman Onlus, project creator and promoter: “The access to such data is essential to doctors and researchers who are working on the development of future therapeutics: the larger the data, the bigger the possibility to get to a successful clinical research which is what we families hope all hope and work for.
It is a project we have been working on for a long time and we are extremely happy to see it happen. All our volunteers, donors and sponsors have been fundamental in reaching this goal and I want to thank them for this.”
ASSOCIATION MAIN INITIATIVES
BIRTH OF ASSOCIATIONE ANGELMAN
FIRST RESEARCH PROJECTS ARE FUNDED BY ERASMUS MC
FIRST FOUR YEAR SCHOLARSHIP IS FUNDED
PRESENTATION OF THE PLAY MAT "AL BAR SCELGO IO"
FIRST ITALIAN A.S. DATABASE IS FUNDED