Regulatory Focus™ > News Articles > Initiative Hopes to Boost Development of Rare Disease Therapies

Initiative Hopes to Boost Development of Rare Disease Therapies

Posted 24 January 2013 | By

A new EU initiative will pour tens of millions of Euros into an attempt to develop new diagnostic tools, treatments and development networks for patients with rare diseases, researchers have announced.

The initiative-as yet unnamed-will involve 70 research institutions and €38 million and the development of a "central global rare disease hub… that will allow scientists to share data from their genomics research projects," the group said.

A Boon to Industry?

The effort could be of particular interest to the pharmaceutical industry, which is increasingly looking to rare disease areas as a source of profit. Despite the relatively small number of patients-defined as being fewer than 200,000 in the US and fewer than one in 2,000 patients in the EU-the absence of clinically meaningful therapies on the market means companies have an easier time commanding relatively high prices for treatment. In the US, some therapies cost well in excess of $100,000, with some analysts predicting prices could soon exceed a million dollars per patient per year for select diseases.

The other benefit to the industry is that while rare diseases are individually rare, they collectively affect huge numbers of patients around the world. In the EU alone, between 6,000 and 8,000 known rare diseases affect an estimated 30 million patients. That means thousands of opportunities to develop, market, and potentially profit from new products.

But getting those products to market remains difficult; and part of the effort seems geared toward making it easier for companies to show regulators that a product is effective. In 2012, the US Food and Drug Administration (FDA) approved a cystic fibrosis medication, Kalydeco (ivacaftor), which was approved based on evidence that it was effective in a small subset of patients with a specific gene defect.

Genomic Medicine

Researchers with the project, while not mentioning Kalydeco specifically, indicated that a similar philosophy will be underpinning their work.

"Being able to sequence a person's entire genetic code is an important advance, particularly for people living with the many rare genetic disorders, but it has also shown us that sequencing is only the first part of the story," explained Professor Hanns Lochmuler of Newcastle University, leader of the initiative. "It doesn't replace clinical expertise - in fact, being able to combine genetic data with clinical data is more important than ever."

"Sequencing produces a vast amount of information, but in most cases it will find hundreds of genetic changes in each person," added Ségolène Aymé, emeritus director of research at INSERM, the French Institute of Health and Medical Research. "We now need to collate the data internationally to discover which change-or combination of changes-actually causes the disease."

The initiative, which is being awarded grants through the International Rare Diseases Research Consortium (IRDiRC), also noted that at least 80% of these rare diseases have a genetic component, and with the falling cost of genome sequencing technologies, the time is ripe to pool research data.

Matching diseases with genetic diagnostic tools could go a long way toward ensuring that future rare disease products-the next Kalydeco, if you will-have an easier time getting the stamp of approval from European Medicines Agency and FDA regulators.

For now, the funding will be divided into four project areas. A German team at Heidelberg University will focus on rare kidney disorders, while another at the University of Tübingen will assess rare neurodegenerative and neuromuscular disorders using whole-exome sequencing. In the UK, a third team will look at the development of infrastructure needed to share the research data, while the fourth team at INSERM will look at ways to support international collaboration.


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