Preventing an innovation blackhole: Finding ways to optimize and accelerate regulatory pathways for orphan drugs in the EU

By Jane Byrne

- Last updated on GMT

© GettyImages/Pict Rider
© GettyImages/Pict Rider

Related tags Orphan drug Rare disease Ema

A new multi-stakeholder group of experts has been set up to provide input and ideas in the context of the ongoing evaluation of the orphan medicinal products (OMP) regulation in Europe.

The European Expert Group on Orphan Drug (OD) Incentives will also look at the environment for the research and development of rare diseases therapies in Europe.

In the driving seat of the project is EURORDIS, the non-governmental rare diseases patient-driven alliance, and EUCOPE, the European association for small to medium-sized companies in the field of pharmaceuticals and medical technologies, many of which focused on rare diseases.

Steering the group’s activities, along with the two lead organizations, are the co-chairs: former MEP, Renate Sommer, and Professor Maurizio Scarpa, coordinator of MetaBERN and chairman of the European Reference Networks Board of Coordinators (ERN-BC).

Six EUCOPE member companies are providing expertise and financial resources to support this initiative: Alexion, Biogen, Bristol Myers Squibb, Chiesi, PTC Therapeutics and Takeda.

The initiative is focusing on three areas for which to develop concrete policy proposals around, including:

  • Prioritization and optimization: Addressing therapeutic areas with currently no treatment and to support delivery of continued innovation for rare disease where treatments exist;
  • Regulatory pathways: Finding ways to optimize and accelerate regulatory pathways for orphan drugs;
  • Development incentives: Actions tailored to support OD development process, based on other international experience and ideas to trigger collaboration between academia, industry and regulators in Europe.

Preventing an innovation blackhole

The EU OMP legislation was introduced in 2000 specifically to address the challenge of regulating medicines that treat patients with rare diseases.

Marking the 20th anniversary of the regulation coming into force, and in the lead-up to the OMP evaluation, EUCOPE commissioned a study​ that concluded that regulation had successfully incentivized companies to invest in the development of OMPs.

The review found that the number of medicines approved in Europe to treat rare diseases since 2000 has increased from 8 to 167, while the number of clinical trials focused on rare diseases have grown by 88% in a decade.

However, the initial progress seen since the introduction of the regulation has dwindled in recent years, with a decrease in a number of designations and approvals in the EU over the past four years. Currently, 95% of rare diseases conditions remain without treatment.

Alexander Natz, EUCOPE’s secretary general, elaborating on EUCOPE’s priorities in this respect, in July 2020, commented: “The OMP Regulation is crucial to stimulate R&D, bring new treatments to patients and incentivize companies to invest in OMPs. While the regulation has done a great deal to foster the development of OMPs, competitiveness in Europe is decreasing which might lead to postponing innovation, which will be detrimental to patients, especially those living with a rare disease. The EU simply cannot afford this innovation blackhole.”

Regulatory hurdles

The EU's OMP regulation has incentivized investment in R&D of treatments for rare diseases. However, a large number of development projects are still abandoned along the development path, said the stakeholders.

Only around 17% of OD projects reach market approval and even fewer succeed in pricing and reimbursement negotiations. “This high attrition rate is due to both failures at different stages of the development process and abandonments,​” they reported.

Abandonments may in part be linked to the fact that EU regulatory pathways are slow, cumbersome and not flexible enough to accommodate all challenges of OD development, they say.

“This is particularly relevant for small companies with fewer funds and experience in gaining market access, for innovative therapies and treatments for ultra-rare diseases.

“Simplifying and accelerating regulatory pathways for orphan drugs can contribute to reducing the perceived up-front risk of OMP development and decrease the share of abandoned or failed projects ultimately increasing the availability of treatments for rare diseases.”

The initiative’s focus group on regulatory pathways will analyze the strengths and weaknesses of the current system and suggest measures to improve flexibility, predictability and speed of the regulatory pathways to incentivize development and access to OMPs for rare disease patients.  

A look at rare disease stats in Europe

In the EU, a rare disease is one that affects no more than 1 person in 2,000. This means that between 6,000 and 8,000 different rare diseases affect or will affect an estimated 30 million people in the EU, said the European Medicines Agency (EMA).

Some 80% of rare diseases have identified genetic origins and affect between 3% and 4% of births. Other rare diseases are due to degenerative and proliferative causes.

Symptoms of some rare diseases may appear at birth or in childhood, including spinal muscular atrophy, lysosomal storage disorders, patent ductus arteriosus (PDA), familial adenomatous polyposis (FAP) and cystic fibrosis. More than half of rare diseases appear during adulthood, such as renal-cell carcinoma, glioma and acute myeloid leukemia, according to the EU agency.

Medical and scientific knowledge about rare diseases is lacking. The number of scientific publications about rare diseases continues to increase, with an average of five new diseases described every week in the medical literature. However, fewer than 1,000 diseases benefit from even minimal amounts of scientific knowledge. These tend to be the rare diseases that occur most frequently, said the EMA.

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