Towards success

Up to June 30, 2013, the Telethon Foundation has invested over € 394 million to fund 2470 research projects, which have yielded 9350 articles in international scientific journals, as well as making a significant contribution to progress towards the treatment and cure of rare genetic diseases. Read more.

Up to June 30, 2013, the Telethon Foundation has invested over € 394 million to fund 2470 research projects, which have yielded 9350 articles in international scientific journals, as well as making a significant contribution to progress towards the treatment and cure of rare genetic diseases.

The most impressive result in the last year regards the clinical studies under way at the Telethon Institute in Milan (Tiget). Two articles, published in July 2013 by Science magazine, document the progress made by the two studies, which have involved a total of 16 patients, six of them sufferers of Wiskott-Aldrich syndrome and 10 of metachromatic leukodystrophy. The results offer concrete hope for children suffering from these severely invalidating conditions, confirming the importance of the work the Tiget research team has been carrying out for some 15 years now.

The first experimentation of the same treatment approach to a rare immune deficiency, Ada-Scid, has already been completed successfully, and is ready to become a treatment accessible to those in need of it.

However, the encouraging prospects for patients do not regard gene therapy alone. A clinical study is under way on cell therapy for the treatment of Duchenne muscular dystrophy, as well as another four on pharmacological therapy (for Pompe disease, Stargardt syndrome, Marfan syndrome and ethylmalonic encephalopathy). A total of over 300 patients have been involved, and this figure is destined to top 4000 if we also take into account those who have taken part in the Telethon-Uildm clinical studies regarding neuromuscular disorders.

Successes like these are a demonstration of the ability of funded research to discover a cure for diseases, but it is also important to bear in mind all those results we might define as "intermediate", which are essential steps towards completing the mission. Progressing from the laboratory to the patient takes years, and involves dozens, sometimes hundreds, of researchers, and each stage is essential to reach the target.

Basic research undoubtedly accounts for the lion's share of the investments made by Telethon every year; identifying the genes responsible, when altered, for causing a disease and understanding how these defects come to cause the symptoms we can observe in patients is the first, fundamental stage in the process.

Together with the prospects for research, the identification of new disease genes immediately offers patients the possibility of a diagnosis and of timely access to the treatments available. The enormous hotbed of ideas generated by basic research has over the years increasingly given rise to hypotheses of potential interest for turning into treatment strategies.

It is interesting to note that the proportion of funds invested in this stage of the process leading to a cure has increased significantly, from 2% in the organisation’s early years to almost 30% today. There are currently 16 treatment approaches that have produced encouraging results.