9/11/2017 Ospedale Papa Giovanni XXIII di Bergamo. Nasce il Registro Italiano dei malati Angelman

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.”

HOW DO I REGISTER?

To register – explains Luigi Carriero, project manager of the Italian Angelman Registry – families and caretakers will have to enter the website, sign, sign the informed consent and, after being given a password, fill in the forms required. The procedure can be followed autonomously. Different forms of support will be provided for helping families through registration. Data will later be verified and validated to grant correction of the information provided”.
If compared to more “traditional” Registries, like those produced by researchers or Research centres, this tool grants a higher level of participation (patients are more likely to share data and information if they maintain an active role and receive periodical feedbacks from the Registry) and it offers more possibilities to access resources for its development and its long term maintenance (patients organisation are highly motivated to raise funds and to pour resources into the Registry if the tool remains under their responsibility and serves the needs and purposes of their community).

WHO CAN PARTICIPATE IN THE PROJECT?

All parents and caregivers of children and adults with a diagnosis, even if only clinical, of Angelman Syndrome (in 5%-26% of the patients the genetic defect has not been identified), who are resident in Italy. In order to make the procedure easier for families and caregivers, the Registry will be created using an innovative database which they will be able to fill in autonomously with the patient’s data.

DATA PROTECTION

“A scientific committee will supervise the Registry activities to grant data protection and fairness of procedures – states Tiziano Barbui, From scientific manager -. All data provided by patients will be registered in the database following a procedure which protects privacy according to strict criteria”.

ANGELMAN SYNDROME

1900
The disease was first described by British paediatrician Harry Angelman who observed it on three children in 1965.
0
The majority of AS cases are caused by deletions on the maternal copy of Chromosome 15. (15q11-q13).
14500
It is estimated that Angelman Syndrome affects on average 1 child of 15000 newborns. In Italy there are an average of 20 to 40 new cases every year.
0 months
First symptoms of the disease, such as hypotonia and eating disorders, usually become evident by age 6 months. e disturbi dell'alimentazione. Between age 6 months and 2 years seizures and a developmental disability can be appreciated
0 %
The 22%-25% of the individuals affected by the disease do not have a clear genetic framework.
1 %
It is estimated that in case of UBE3A mutations there is a 50% chance of AS cases for the siblings.

ASSOCIATION MAIN INITIATIVES

  • JANUARY 2012

    BIRTH OF ASSOCIATIONE ANGELMAN

  • SEPTEMBER 2013

    FIRST RESEARCH PROJECTS ARE FUNDED BY ERASMUS MC

  • JULY 2015

    FIRST FOUR YEAR SCHOLARSHIP IS FUNDED

  • APRIL 2016

    PRESENTATION OF THE PLAY MAT "AL BAR SCELGO IO"

  • NOVEMBER 2017

    FIRST ITALIAN A.S. DATABASE IS FUNDED

PRESS CONFERENCE

OUR PARTNERS IN THE PROJECT

HOW TO SUPPORT THE REGISTRY

Everyone can support the Project

You can support the registry by:
– making a donation by bank transfer to “Associazione Angelman onlus” IBAN IT15P0521653990000000008000, Reason of payment “Registro Italiano Angelman”
– making a donation by bank transfer to “From – Fondazione di ricerca dell’Ospedale di Bergamo” IBAN IT73E0335901600100000009519, Reason of payment “Registro Italiano Angelman”
– Keep in touch with us, follow our Facebook page.

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