Rare diseases are no unicorns and orphan drugs are no fairytales

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BLOG - 26 februari 2021

Rare diseases are conditions that affect fewer than 1 in 2,000 citizens. They are complex conditions that are most often either life threatening or chronically disabling. 70% of rare diseases are caused by genetic disorders. 75% affect children, of which 1 in 3 will die before the age of 5 if not treated.

Despite their name, rare diseases are not rare (RaDiOrg had a great campaign about this). About 6,100 rare diseases are known. Though each of those affects a small group of patients, their combined impact is significant. 5% of the world’s population is affected by a rare disease. That means 30 million people in Europe, 500,000 in Belgium (See the report of the European Medicines Agency).

Developing innovative therapies is not straightforward. This is true for any drug, and orphan drugs present specific challenges. The limited number of patients present a challenge for clinical research. Researching new modes of action is highly expensive – most drugs starting development do not make it to market. New drugs that do make it to market may face complex and time-consuming production processes. And those companies most invested in the orphan drug space are often small companies with a limited commercial portfolio having to generate sufficient return on their considerable investments with therapies aimed at a small group of patients.

These challenges led to the development of specific European and Belgian policy efforts such as the development of a Belgian National Plan for Rare Diseases in 2014, designed to incentivize orphan drug R&D. Those policy initiatives have and are continuing to pay off: between 2000 and 2019, the European Medicines Agency has granted 169 initial orphan marketing authorizations and 27 extensions of indication (MORSE report 2020).

This increase in the number of orphan drugs available comes with its own set of challenges. For one thing, orphan drugs are often associated with a higher cost per patient. Though the budget per indication may be low, the combined impact of orphan drug therapies has steadily been increasing. Between 2011 and 2018, net RIZIV expenditure on orphan drugs has increased from a little over 200M€/year to just over 500M€/year (MORSE report 2020). The increasing pressure on budgets coupled to the specific context of orphan drugs – with typically more limited clinical evidence, more uncertainty on population size, natural disease history or real-life use - means price and reimbursement is not straightforward. In 2019, only 59% of orphan drugs were reimbursed in Belgium, with an additional 8% currently being evaluated (MORSE report 2020). 22% have never been submitted, 11% were denied reimbursement.

At Hict, we are right in the middle of these issues. Our direct involvement in the reimbursement request of 16 Orphan Medicinal Products through health economic support and/or strategic market access advice gave us a front seat view on the complexity of preparing and evaluating an orphan drug reimbursement request. We are also actively co-designing constructive solutions, initiating multi-stakeholder debate on the use and usefulness of innovative managed entry agreements and proactively developing guidance and the use, limitations, and potential extension of cost-effectiveness in orphan drug indications.

Rare disease patients are not rare. You may very well personally know a rare disease patient. These individuals are no unicorns. Fortunately, for an increasing number of those patients, effective drugs are no fairytales. We owe those patients to continue to work together to bring safe and effective therapies to market in an affordable and sustainable way.

How can we help?

Whether you are looking to improve patients’ lives, work on optimizing healthcare, invest in developing new treatments or improve market access – we are always looking for constructive debate and opportunities to work together.

Contact us