GSK details rare diseases strategy

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GlaxoSmithKline (GSK) has provided further details concerning its new unit dedicated to rare diseases, which was launched in February.

GlaxoSmithKline (GSK) has provided further details concerning its new unit dedicated to rare diseases, which was launched in February. According to the company, the new unit provides the necessary resources to create new medicines or approaches to tackling rare diseases. With more than 6000 rare diseases, however, Marc Dunoyer, Global Head of GSK Rare Diseases, explained in a statement that the unit’s efforts will be very focused.

“We will target those diseases where we realistically believe we can make a significant contribution; ideally, we will be creating new medicines, but importantly by adding to the weight of scientific knowledge into rare disease to the benefit of all working in this area.”

A systematic approach will be used to select which diseases to target. According to Dunoyer, the aim is to create a list of approximately 200 priority diseases for the unit to target, although this list will probably change over time in light of new knowledge. “Other factors that will also influence our decision-making process will include our belief about the potential for a treatment to help manage a disease, its complications or even offer a cure,” said Dunoyer. “Not all rare disease are ‘reversible’ or can be significantly improved by therapeutic interventions and it will be vital that we are science-led in making these decisions.”

To ensure the right molecules are selected for development, the company has said it will leverage medicinal chemistry and biology expertise. “If we make the right decisions upfront, then ultimately the risk associated with discovery and development is generally lower as the conditions are often well defined and clinical development programmes tend to be small with robust endpoints. In most cases, the molecular target is known, making it easier for treating physicians to diagnose patients,” said Dunoyer.

GSK’s rare disease portfolio also received a further boost earlier this week with the announcement of an alliance with Fondazione Telethon and Fondazione San Raffaele, two institutes in Italy that have been collaborating in biomedical research. The alliance will research and develop treatments for rare genetic disorders using gene therapy carried out on stem cells taken from patients’ bone marrow. Under the terms of the agreement, GSK will gain an exclusive license to develop and commercialize an investigational gene therapy for ADA severe combined immune Deficiency, which affects approximately 350 children worldwide.


The company will also co-develop with the two institutes six further applications of ex vivo stem cell therapy using a new gene transfer therapy that has the potential to treat a range of rare disorders.

In a statement, Philippe Monteyne, Head of Development and Chief Medical Officer for GSK Rare Diseases, described the alliance as an “important addition” to the company’s portfolio of rare diseases.