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Telethon Italy A future free from genetic diseases, for everyone We support excellent research to develop effective treatments to cure rare genetic diseases, because even caring for the lives of a few means making a commitment to the wellbeing of all
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A WORLD LEADER IN bIOmEDIcAL RESEARcH Telethon is a major Italian charity founded in 1990, thanks to the encounter between former Foreign Minister of the Italian Government, Susanna Agnelli, and the Italian Union for the Fight Against Muscular Dystrophy (UILDM). Born as a promise to a community of patients, from the beginning its ultimate goal has been to cure rare genetic diseases, through investments in excellent biomedical research. The inspiring principle of Telethon’s mission is to value every single human life and to challenge any quantitative reasoning which would lead to the establishment of priorities that discriminate between improving the quality of life of a very small community of patients versus that of larger groups. During the course of Telethon’s first twenty years of activity, significant milestones and promising breakthroughs have been achieved in the fight against rare genetic diseases. These results, along with its uncompromising commitment to outstanding biomedical research, highlight the leading role acknowledged worldwide that Telethon plays in the fight against genetic diseases.
We’ve been working since 1990 to ensure that being born with a genetic disease will no longer be a condemnation. Today, thanks to Telethon research, the quality of life and life expectancy of many patients has increased.
NURTURING HOPE FOR mILLIONS OF LIVES Several thousand genetic diseases are known today and their list is constantly growing, due to the discovery of new disease-causing genetic defects. Altogether, genetic disorders involve virtually every organ of the body and affect people of all ages. Around 50% of them affect children and most of them are still without a definitive cure. Taken individually, genetic diseases are rare and therefore neglected by major private and public funding. However, taken as a whole they represent a health and social burden that affects the lives of millions. It is estimated, for example, that eight million children worldwide are born every year with a severe defect whose origin is totally or partially genetic (March of Dimes Global Report, 2008). According to the Center for Arab Genomic Studies, in the Arab world rare genetic diseases represent a major public health problem, accounting for 30% of pediatric hospital admissions and 50% of childhood deaths. The high prevalence of these disorders in Arab countries — sometimes magnified by positive environmental selection, as is the case of thalassemia and Glucose-6-phosphate dehydrogenase deficiency — explains why many of the patients potentially helped by Telethon’s research on rare genetic diseases are of Arab descent.
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FOSTERING EXcELLENcE IN ScIENcE
THE FIRST DISEASE cURED bY TELETHON
With the aim of pursuing the most promising avenues towards the cure of genetic diseases, Telethon has developed a rich and diverse research portfolio that ranges from basic to clinical science. Thousands of projects, selected in the last twenty years through highly competitive calls, have led Telethon-funded investigators to unravel fundamental mechanisms at the bases of various genetic disorders. These globally recognized achievements are constantly moving Telethon research closer to the cure. Diverse therapeutic strategies are being developed for a growing number of diseases, including pharmacological and gene-therapy approaches.
Ada-Scid is a severe congenital immunodeficiency that exposes affected children to the constant risk of contracting life-threatening infections and prevents them from leading a normal life, because every interaction with the environment — at home, at school, even with their own families — could be fatal. A bone marrow transplant from a matched donor is currently the best treatment option available to patients. Unfortunately, suitable bone marrow donors cannot always be found for all patients. In some cases, patients are treated with a pharmacological approach (i.e. supplying the body with an enzyme missing in Ada-Scid patients), but this therapy requires frequent injections and it is not a cure. This rare condition, affecting about 350 infants born every year worldwide, was the first genetic disease in the world to be cured through gene therapy, the ultimate therapeutic avenue in today’s innovative medicine.
TELETHON ITALY IN NUmbERS 323
Million Euros invested in projects
1421
Researchers funded
2261
Telethon projects
454
Diseases studied
18 7363
Promising therapeutic approaches Scientific articles published
On the left, a group photo of children cured of Ada-Scid together with their families during the televised marathon which has been a regular date for 20 years for millions of television viewers.
Telethon scientists at the Milan institute have optimized a novel protocol whereby the patient’s own blood stem cells are harvested, cured of the genetic defect, and re-infused into the patient’s body. This self-transplant approach entails much less risk of immune rejection compared to a bone marrow transplant from a donor and, most importantly, provides an effective chance of a cure for all patients, especially those for whom a suitable donor could not be found.
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DEVELOPING INNOVATIVE STRATEGIES The Ada-Scid breakthrough has put the Telethon Institute for Gene Therapy among the major players in biomedical research globally. The team of Telethon scientists and clinicians engaged in this endeavor is at the forefront of innovative research in gene therapy and its leadership is being further expressed in the development of promising therapeutic strategies for other severe genetic diseases, ranging from immune deficiencies to neuro-degenerative to metabolic and blood disorders such as beta-thalassemia. All of these are global challenges, like the one Telethon faced in the case of Ada-Scid.
THE FIRST SUccESSFUL GENE THERAPY IN THE WORLD Through an international network of cooperation among doctors and health institutions, fourteen children from all over the world were referred to Telethon’s clinical trial for Ada-Scid in Milan, where they could be cured. They came from a number of countries, including Brazil, Canada, Switzerland, the US, etc.; six of them are living in Arab countries or are of Arab descent. The cure was developed at the Telethon Institute for Gene Therapy in Milan and its first success came in 2002. Since then, thanks to this therapy, the fourteen affected children have been completely cured within a pivotal clinical trial. At present the protocol for the cure is being registered with international regulatory authorities and, thanks to a collaborative effort with a major pharmaceutical company, it will be available as the ‘gold standard’ for all the patients in need of this treatment.
THE FUTURE: PROmISING RESEARcH DEVELOPmENTS
In 2009, all the children cured within the Ada-Scid trial and their families were received by the President of the Italian Republic. That was one of the most touching moments among many occasions celebrating the success of this charity, which, though relatively small in the global context, still has such a broad impact.
The cure for Ada-Scid was only the beginning. In 2010 the Telethon Institute for Gene Therapy in Milan went on to challenge another devastating metabolic disease, initiating a promising gene therapy trial for metachromatic leukodystrophy. The first child involved in this study is from Lebanon.
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Abdul Rahim - Qatar Born in 2005. Treated in 2007.
Aleyna - Turkey
Azuz - Saudi Arabia
Born in 2001. Treated in 2004.
Born in 2004. Treated in 2006.
Nicholas - Switzerland
Parker - Canada Born in 2005. Treated in 2007.
Rafael Enrique - Venezuela Born in 2000. Treated in 2002.
Valerio - Italy
Widad - Morocco
Born in 1998. Treated in 2004.
Born in 2005. Treated in 2008.
Born in 2004. Treated in 2005.
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Enrico - Brazil
May - Saudi Arabia
Born in 2004. Treated in 2007.
Lucas - Germany Born in 2004. Treated in 2006.
Born in 1999. Treated in 2002.
Salsabil - Palestinian Territories
Sebastian - United States of America
Valentina - Colombia
Born in 1999. Treated in 2000.
Born in 2000. Treated in 2008.
Born in 1997. Treated in 2001.
On these pages, the 14 children cured of Ada-Scid. Destined to live short lives in complete isolation, today they lead normal lives, thanks to the genetic research carried out by Telethon.
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Telethon Foundation Via Carlo Spinola, 16 00154 Rome (Italy) Tel.: (+39) 06 440151 e-mail: info@telethon.it website: www.telethon.it