GSK and Italian Telethon enter historic partnership

Turning gene therapy research into treatment

It has been called a breakthrough for gene therapy in rare diseases: the Italian Telethon and GlaxoSmithKline (GSK) have entered into a strategic alliance to research and develop novel treatments to address rare genetic disorders.

The GSK-Italian Telethon alliance marks the first time a global pharmaceutical company has become directly involved in the area of gene therapies applied to rare diseases. It is also the first time that GSK has entered into partnership with a not-for-profit organisation such as the Italian Telethon.

Under the terms of the agreement, the Italian Telethon will receive an upfront 10 million euro payment from GSK to develop and commercialise a gene therapy developed by a team of researchers, funded by donations from the Italian Telethon, based on the generosity of the Italian people. The gene therapy in question has the potential to restore long-term immune function and protect against severe infections in children with ADA Severe Combined Immune Deficiency (ADA-SCID), one form of severe immunodeficiency, commonly known as ‘bubble boy disease.’

In addition, GSK will co-develop with the San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), other therapeutic leads to treat the following rare disorders:

• Metachromatic leukodystrophy (MLD)
• Wiskott-Aldrich Syndrome (WAS)
• Beta-thalassemia
• Mucopolysaccharoidosis type I (MPS I)
• Globoid leukodystrophy (GLD)
• Chronic granulomatous disorder (CGD)

According to GSK and other sources, a therapy for ADA-SCID disease could obtain market authorisation within two years.

“This project is an excellent example of translational research. The Telethon has done a fantastic job so far of taking the product through the orphan designation process and all the way to the first studies in patients. GSK will now take it to the next level, scaling-up the production beyond clinical studies and driving the regulatory strategy to have it authorised,” explains Dr Philippe Monteyne, Head of Development and Chief Medical Officer for GSK Rare Diseases. “However this would not have been possible without the solid and high-quality research supported by the generosity of the donors of Telethon Italia. Good science pays off whatever the stage of development. Patient organisations should always support quality research if they stand a chance of seeing that research translated into effective treatments,” says Dr. Fabrizia Bignami, Research & Therapeutic Development Director at EURORDIS.

“We expect that this partnership with GSK will improve the image of the Telethon, since we have kept our promise to develop a cure for genetic diseases,” says Francesca Pasinelli from Fondazione Telethon. “However, a significant amount of work and investment is still needed to further the clinical development of this promising new technology. There are thousands of other rare genetic diseases that will be studied thanks to Italian Telethon investigations and we continue to need the financial support of our donors.”

The gene therapy employed in the case of ADA-SCID is particularly promising because it is carried out on stem cells taken from the patient’s bone marrow. This means that the corrected gene is transferred to the patient’s own stem cells, considerably reducing the risk of immune rejection compared with a donor’s bone marrow transplant.

“This agreement gives credibility to gene therapy and opens up the way for other clinical applications for a number of rare diseases that can be treated by correcting the gene in the stem cells of the bone marrow,” explains Dr. Serge Braun, Scientific Director at the French Muscular Dystrophy Association (AFM-Telethon). “The AFM-Telethon has been committed, early on, alongside the Italian Telethon, to enabling the HSR-TIGET team to conduct its immunodeficiency gene therapy program with success. We managed a joint Italian Telethon (Fondazione Telethon) / French Telethon (AFM) call for projects and directly supported the program. It is thanks to this long-term commitment that a research program and clinical trials of this kind were able to demonstrate their effectiveness and to attract an industrial player like GSK. The two French and Italian organisations have led concerted efforts to achieve this resounding success.”

“It is important to underline that the constant financial support of a charity organisation such as Italian Telethon allowed researchers to reach excellent clinical results for ADA-SCID. However, for the final stage of translation into a manufactured medicinal product for patients, we need the experience and knowledge of a well-committed pharmaceutical company,” explains Michele Lipucci, EURORDIS patient representative at the EMA’s Committee for Advanced Therapies (CAT). “This example could become a new model to develop advanced therapeutic medicinal products through partnership between industry and charity organisations.”

Other rare disease patient advocates agree. “We need to learn how to work constructively with the pharmaceutical industry. This agreement is the result of the Telethon strategy to seek out commercial drug companies to translate research outcomes into effective drugs. It rewards years of painstaking research, which has achieved amazing results for ADA-SCID children in particular,” argues Simona Bellagambi from UNIAMO, the Italian National Alliance for Rare Diseases. “We hope that the initial 10 million euros will be followed by further investment to treat more people and more rare diseases”.

“This is the right time to get involved in rare diseases,” says Dr Philippe Monteyne, "Recognising the size of the challenge, but also the opportunity to deliver innovative medicines to patients with severe conditions and high unmet medical needs, GSK created a dedicated Rare Diseases Unit in February 2010.  We are focused on urgently moving rare disease research to the next level - drawing on our heritage and expertise to turn molecules into medicine quicker and more effectively than ever before,"

For more information:
Read the press release
Read Dr Serge Braun’s comments in the AFM Blog

Read more about :
Fondazione Telethon
Fondazione San Raffaele
San Rafaelle Telethon Institute for Gene Therapy (HSR-TIGET)
GSK Rare Disease Strategy

This article was first published in the January 2011 issue of the EURORDIS newsletter

Author: Paloma Tejada
Photo credits: © Fondazione Telethon & INSERM Depardieu, Michel