IAGSA 2014
INSTITUTIONAL ACTIVITIES IN 2014
1) Participation in the project entitled “DETERMINAZIONE RARA” funded by the Italian Ministry of Labour and Social Policies and by UNIAMO FIMR.
The modules held at AIFA, on 10-11 January and 7-8 February, dealt with the transition from scientific research to accessible medication, and the risk/benefit assessment that this process involves. It also dealt with Exploration of a gene therapy protocol, discussing and highlighting the key aspects of the relative knowledge and decision-making processes:
• design
• safety
• inclusion and exclusion criteria
• risks and benefits
And explaining the therapeutic scenario it opens up.
Rome, AIFA, 10-11 January, 7-8 February 2014
2) Participation in the project entitled “DETERMINAZIONE RARA” funded by the Italian Ministry of Labour and Social Policies and by UNIAMO FIMR.
The modules of 7-8 March and 4-5 April, held at the Italian National Institute of Health (Istituto Superiore di Sanità - ISS), were devoted to a meeting with the institutions. The meeting dealt with the following topics: rare disease registers: a virtuous cycle between data and scientific knowledge and participation in RD-Connect for the sharing of data at European level in order to increase the synergies necessary for an integrated process of scientific knowledge; associations at the forefront in the collecting of information for care and research; and the role and potential of rare disease patient associations in the development of research and scientific knowledge.
Rome, ISS, 7-8 March, 4-5 April 2014
3) Participation in the project entitled “DETERMINAZIONE RARA” funded by the Italian Ministry of Labour and Social Policies and by UNIAMO FIMR.
Final event including a presentation, to the press and the institutions, of the results of the “DETERMINAZIONE RARA” project
Aspects covered during the event:
For their very complexity, the frontiers of advanced research and care raise new considerations from an ethical and regulatory perspective, and also in terms of scientific validation, which are naturally of particular relevance to those affected by rare diseases.
The impact, both on society and at individual level, of the choices and decisions involved in areas such as biomolecular research, cell therapies and early access to experimental drugs is such that the choices involved raise the clearly unavoidable need for direct and active involvement of patients, and their representatives, so that they may help to orient, assess, decide and monitor the unfolding of research and the implementation of its results.
The frontiers of research are starting to face a challenge of which all those involved (patients, researchers, clinicians, regulatory bodies) are increasingly aware, and which is making us ask whether the time has not come for a new “covenant” on research – for an anticipatory debate designed to ensure that research itself is ethical, sustainable and citizen oriented.
In the light of various developments (the joint work done in the ambit of “DETERMINAZIONE RARA”, workshops on quality information as a springboard for patients and associations wanting to be active in and/or activators of research, the new, shared informed consent model, and proposals to involve associations in the evaluation and monitoring of requests to conduct research using biological materials from biobanks), biobanking was identified, in agreement with the associations, as an exemplary framework for discussing the work done, and still to be done, with a view to this new covenant on research – under which patients with rare diseases, and the relative associations, will be involved as valid, but also necessary, partners.
Rome, Ministry of Health, 20 June 2014
4) Participation, at the UMIAMO federation headquarters (Rome), in the Carosello project aiming to contribute to a guide on the "due rights and benefits in the workplace for people with rare diseases”
Rome, federation headquarters, 26-27 September 2014
5) At SANIT 2014, IAGSA took part in the meeting “Piano Nazionale delle Malattie Rare 2013-2016” (National Plan for Rare Diseases 2013-2016) presenting a poster on the ongoing scientific activity of the participating patient associations.
Rome, Palazzo dei Congressi, 17 December 2014
6) Participation in research projects. IAGSA endeavours to ensure that there is contact between families and research projects. A major difficulty in managing research into a rare disease is finding and obtaining the collaboration of patients affected by it. Thanks to IAGSA’s involvement, it has been possible:
- to obtain funding, given that, through our efforts, an adequate number of samples could be assured
- to promote direct exchanges of medical information between researchers and families
- to have, for the families, more detailed information on the outcome of research and studies conducted - to ensure that the “patient’s point of view” is heard within the research setting.
7) On the initiative of IAGSA, and with the collaboration of the Military Chemical and Pharmaceutical Institute (Florence) and AIFA, the active ingredient of niaprazine (which has not been available in Italy for some time) has been reproduced, in order to solve the sleep problems of many of our youngsters and of numerous other patients with “rare diseases”. It is now available to all.
8) Fundraising: several fundraising activities have been undertaken: raising awareness of the “5 per Mille” instrument, organisation of events, dinners, sports galas.
9) Fundraising through the “5 per Mille” instrument
10) Management and reorganisation of the website: the association has begun to review and revise the content of the website, starting with an updating of the bibliography. The texts and scientific information are soon to be updated.
11) Membership campaign (the membership fee is still €25.00)
SCIENTIFIC ACTIVITIES IN 2014
Ongoing projects and initiatives:
1) Participation in the European project known as NIMBL:
“Nuclease Immune Mediated Brain and Lupus-like conditions (NIMBL): natural history, pathophysiology, diagnostic and therapeutic modalities with application to other
disorders of autoimmunity” (the families’ representative is a member of the Steering Advisory Group)
2) Researcher devoted to Aicardi-Goutières syndrome at Spedali Civili, Brescia, Chair of Child Neuropsychiatry, Department of Clinical and Experimental Science, University of Brescia
3) “Applicazione di protocolli preventivi e terapeutici per la Sindrome in modelli pre-clinici” (Application of preventive and therapeutic protocols for the syndrome in pre-clinical models), project, in collaboration between IAGSA and the University of Genoa
4) “Processing of RNA:DNA hybrid molecules by RNaseH in the pathogenesis of the Aicardi-Goutières syndrome and other autoimmune diseases” – research project in collaboration between IAGSA and the Department of Biomolecular Sciences and Biotechnology, University of Milan
Projects under preparation:
1) “Nuove strategie per la prevenzione e il trattamento di patologie neurologiche degenerative immunomediate ad esordio in età evolutiva: il modello della sindrome di Aicardi-Goutières (AGS)”(New strategies for the prevention and treatment of immune-mediated neurodegenerative disorders with onset in childhood: the model of Aicardi-Goutières syndrome) – collaborative project between IAGSA and the Unit of Neurology and Child and Adolescent Psychiatry, Spedali Civili, Brescia, and the Child Neuropsychiatry Unit, C. Mondino National Institute of Neurology Foundation (IRCCS), Pavia
2) “Creazione di un Network per la Sindrome di Aicardi-Goutières: un modello di lavoro per migliorare la diagnosi, la conoscenza della storia naturale, la ricerca e la cura di una malattia rara” (Creation of a Network for Aicardi-Goutières syndrome: a working model for improving the diagnosis, knowledge of the natural history, research and treatment of a rare disease), in collaboration with C. Mondino National Institute of Neurology Foundation (IRCCS), Pavia, and Spedali Civili, Brescia
3) “Studio sullo stress ossidativo (SO) nella Sindrome di Aicardi-Goutières (AGS)” (Study of oxidative stress in Aicardi-Goutières syndrome), collaborative project between IAGSA, University di Bologna – Alma Mater Studiorum and the Department of Experimental, Diagnostic and Specialty Medicine, and C. Mondino National Institute of Neurology Foundation (IRCCS), Pavia