Approximately 90% of rare diseases do not have any approved treatments. Credit: Pexels.

Rare diseases are defined in the European Union (EU) as those that affect less than one in 2,000 people. There could be as many as 7,000 rare diseases, meaning the aggregate number of patients they actually impact is huge; it is estimated to be around 30 million across Europe, representing one in 17 people.

Although rare diseases have moved higher up the pharma industry’s agenda over the past few years – as well as updated regulation and approval pathways for these conditions – unfortunately 90% of rare diseases have no effective treatments, beyond those that manage symptoms. Clearly, there are still significant challenges facing rare disease developers.

Clinical trial and data-related challenges

Regulators and reimbursing agencies still view large, randomised, placebo-controlled trials as the gold standard for measuring safety and efficacy; this was noted by Roche rare conditions franchise lead Richard Eaton at a recent Westminster Health Forum policy conference focusing on orphan diseases and commissioning.

But in rare diseases, because of the small patient populations, multiple disease sub-types and diagnosis challenges as clinicians may never have seen this disease before, it is difficult to identify and recruit enough patients with similar disease states into a randomised clinical trial.

It is also common for regulators to want to see clinically appropriate endpoints that can be compared to placebo groups, but because there have been few previous clinical trials in certain diseases, there is a lack of established endpoints.

Placebo groups for rare diseases, particularly those that primarily affect children, are largely viewed as unethical. There is a call for a patient’s natural history to be used as a comparator.

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Barriers to reimbursement

There has been a gradual improvement in the biological understanding of the largely genetic causes of these complex conditions. This, combined with significant scientific and technical progress, has made it possible for advanced therapies to be developed that actually address the underlying genetic causes. However, these advanced therapies bring their own challenges, particularly linked to pricing and reimbursement.

Cell and gene therapies can bring long-term, durable, and potentially curative benefit to patients, but they are incredibly expensive to manufacture and complicated to administer. This causes challenges for reimbursement agencies who need to weigh up safety and efficacy factors against value for money in terms of improvement in patients’ quality of life and the practicalities of rolling out these therapies into routine commissioning.

Bringing hope for patients

Better understanding of these challenges, helped by strong patient advocacy, has led to new approaches to clinical trial design, data and reimbursement barriers.

One example is the UK’s Conservative Party manifesto pledge to create a £500m Innovative Medicines Fund. This builds on the success of the UK’s National Institute of Health and Care Excellence (NICE) Cancer Drugs Fund, which provides funding and early access to promising oncology drugs while additional data is collected.

At the Westminster Health Forum conference, NICE Technology Appraisals and Highly Specialised Technologies programme director Helen Knight noted the keenness within NICE to get this programme underway. Knight also spoke about the huge success of CDF reimbursement for two chimeric antigen receptor-T cell (CAR-T) therapies, which are some of the most expensive drugs in the world.

This creates optimism that it will be possible to find ways to give patients access to these breakthrough therapies that can genuinely bring them benefit and improve their quality of life.

Cell & Gene Therapy Coverage on Pharmaceutical Technology supported by Cytiva.

Editorial content is independently produced and follows the highest standards of journalistic integrity. Topic sponsors are not involved in the creation of editorial content.