Scientific results

The figure shows the nineteen diseases for which Telethon has obtained very important achievements such as cure, clinical trials, therapeutic strategies soon to be tested in clinical trials and promising results from experimental work in the laboratory.

The diseases for which Telethon research has reached the highest steps are:

The first disease treated

Ada-Scid

This is the first genetic disease in the world to be treated through gene therapy. The cure has been developed at Hsr-Tiget in Milan and its first success is dated 2002. Since then fourteen affected children have been succesfully treated through this therapy. In October 2010 a deal has been made between Telethon and the multinational pharmaceutical company GlaxoSmithKline: the aim of this alliance  is to allow gene therapy for Scid-Ada to become available for all who need it.

The clinical trials

Metachromatic Leukodystrophy and Wiskott-Aldrich Syndrome

In 2010, thanks of the positive results obtained in the animal model,  the first gene therapy trials of for these two serious diseases have started at Hsr-Tiget. A deal between Telethon and the multinational pharmaceutical company GlaxoSmithKline has also been made to support development of these studies. It’s been a year and a half since the trials started and the first treated children are doing well, this allows to be optimistic on  the trials’ outcome. 

Leber congenital amaurosis

A gene therapy trial at the Children's Hospital of Philadelphia has been running since 2007 for one of the forms of this type of hereditary blindness (due to a mutation in the RPE65 gene). The trial also involves Tigem and the Second University in Naples. As of today, the results obtained in 12 patients (5 of which are Italian) are very positive; the treatment is safe and able to restore part of the visual capacity of the patients, especially if started early.  The second phase of the trial, consisting in treating the second eye of these very same patients, started in 2011.

Marfan syndrome

A clinical study was started in 2008 to evaluate the efficacy of a new combination of drugs in the prevention of the principal risk for those suffering from this genetic disease which affects the scaffolding of the body leading to the breakage of the aorta. Preventing the breakage of the body’s most important blood vessel could have an enormous impact on the quality of life of these patients. 

Pompe Disease

At Tigem in Naples a new therapeutic approach has been developed for this serious metabolic disease of genetic origins which affects muscles, in particular the heart; it has been demonstrated in the animal model that adding “helper” drugs to the substitutive enzymatic therapy, which has been available for a few years, notably improves its efficacy. In light of these results, an experiment of this combined therapy in man has started in 2011. 

Ethylmalonic encephalopathy

First success for a pharmacological treatment of this severe mitochondrial disease: the test was carried out on five children at the Institute of Neurology  Besta  in Milan. The therapy, relatively simple and cheap, was able to mitigate the serious effects of this metabolic disease. The very same research group who developed the treatment, is now studying a definitive treatment  for the disease.

Duchenne muscular dystrophy

A clinical trial of cellular therapy started in 2011, the first study of the kind for the treatment of Duchenne muscular dystrophy. The most important goal of the study is to demonstrate that cellular therapy is safe in man, since it has already proved to be effective in the animal model. Even if no definitive cure is to be expected, the hope is for the cellular therapy to be safe and to be able to strengthen the muscles of children affected by the disease.

Stargardt syndrome

A clinical trial was started in 2011 in order to test whether saffron uptake can treat this hereditary form of macular degeneration leading to blindness. Saffron has in fact previously been shown to be effective in treating an eye disease typical of elder people. Furthermore, a study is currently being performed at the Telethon Institute in Naples (Tigem) to develop a therapeutic strategy for this syndrome based on gene therapy. The pre-clinical phase of the study (in the laboratory, on experimental models) has produced promising results.

Therapeutic strategies soon to be tested in clinical trials

Beta-thalassemia

At Hsr-Tiget in Milan a gene therapy strategy based on the use of lentiviral vectors has been proved to be effective in blood cells derived from patients affected by thalassemia. A deal between Telethon and the multinational pharmaceutical company GlaxoSmithKline has also been made to promote these studies.

Mucopolysaccharidosis, type I

This disease has been completely cured in the animal model at Tigem in Naples through gene therapy based on lentiviral vectors. A deal between Telethon and the multinational pharmaceutical company GlaxoSmithKline has also been made to promote these studies. The first clinical trial in men is expected in 2012.

Bethlem myopathy, Ullrich congenital muscular dystrophy

The administration of cyclosporin A, a drug which has been proved effective to cure this disease in the animal model, has generated promising results. In a pilot study, the drug stimulated the muscular regeneration in a small number of patients. At present the researchers are working on the design of a clinical study; a drug analogous to cyclosporine A has been demonstrated in the laboratory to have the same therapeutic effect, but without the side effects. A clinical trial in man is moving closer.

Promising results in laboratory experimental models

For the following genetic diseases Telethon has obtained very promising results in a laboratory setting. It can be said that, in this phase of the research, the therapeutic strategies identified seem effective in mitigating, or even curing, the effects of the disease in experimental models (such as animals or cells derived from patients). In the years to come the research on these diseases will be focused in covering all the steps needed to test the efficacy of these therapies in patients. 

Cronic granulomatous disease

Globoid cell leukodystrophy

Factor VII deficiency

Spinal muscular atrophy

Facial scapular humeral dystrophy

Mucopolysaccharidosis, type II

Mucopolysaccharidosis, type VI