Some 69 drugs for the treatment of rare diseases are now available to patients in Europe, compared with just eight in 2000, the year in which the European Union orphan drug regulation was adopted, a new study reveals.

Moreover, during 2000-2008, R&D investment in rare diseases in the EU rose more than 200%, while the number of company employees working on orphan drugs increased from about 2,000 to over 5,000, says the study, which was commissioned by industry groups the European Biopharmaceutical Enterprises (EBE) and the regional bioindustry association EuropaBio to assess the impact of the EU Orphan Medicinal Products (OMP) Regulation since its adoption.

The Regulation has been “one of the most successful EU healthcare policies overall,” according to Office of Health Economics (OHE) Consulting, which carried out the assessment for the industry groups.

Incentives provided in the legislation have “greatly fostered innovation and entry into market of therapies addressing hitherto unmet medical needs,” it says, also noting that the Regulation has not only provided support to companies investing in such treatments but, importantly, has helped to establish new companies in Europe focused on researching new treatments for rare diseases.

Welcoming the findings, Erik Tambuyzer, chairman of the EBE-EuropaBio joint task force which released the assessment, said that this “is a clear example of how the right legislation can drive forward European healthcare innovation, delivering numerous benefits to individuals, to society and, at the same time, to the development of a sustainable and competitive economy.” 

Individual rare diseases - which include certain cancers, metabolic conditions, diseases of the nervous system and musculoskeletal disorders – affect fewer than five in every 10,000 people, but in combination they may affect, directly or indirectly, around 30 million people in Europe, say the industry groups.

The study finds that R&D focused on finding new treatments for rare diseases represents an increasingly significant proportion of the biopharmaceutical industry’s total R&D investment. Moreover, for nearly all of the companies which have been created to focus exclusively on researching and developing OMPs since the Regulation was adopted, all their R&D activities and staff are located in the EU.

“Given long lead times in biopharmaceutical R&D, we can expect that the EU OMP Regulation will have an even greater impact over the next years,” it adds.

Companies surveyed for the report primarily target Europe and the US to seek orphan indications, and their products are predominantly launched in the two regions. However, the research also found that some firms focus these activities in Europe only, and that, for these companies, the most important element of the EU legislation is market exclusivity, followed by access to the centralised procedure.

However, the biggest challenge following centralised marketing approval remains the continued inequality of access to OMPs for patients across EU member states. These large differences can be linked to demographic and economic factors but also to the application of health technology assessment (HTA) methodologies which, it says, can lead to high rates of rejection and significant delay to access to new orphan drugs.

“The increasing demand for HTA to inform health care decisions will therefore represent a major challenge in terms of access to OMPs, which are unlikely to meet standard HTA requirements,” says the report. However, it cautions that: “ensuring access to orphan drugs in national health care systems in a timely and effective way is important to maintain the positive impact of the OMP developers on the economy and, ultimately, to continue delivering life-saving therapies for patients.”