Rare #diseases: When marketing approval simply isn’t enough

Rare disease patients in Europe got a boost in late December after a European Medicines Agency (EMA) experts’ panel recommended seven medicines for approval, including two orphan drugs, bringing patients closer to new options for alleviating a number of serious conditions.

The panel recommended granting a marketing authorization for Alofisel, which treats a severe complication resulting from Crohn’s disease, and endorsed a conditional authorization for Crysvita, the first treatment for a severe, progressive bone condition known as X-linked hypophosphatemia. Following the initial recommendation, these drugs can expect to receive final marketing authorization early next year.

For Europeans who have been eagerly awaiting the panel’s decision, this development is certainly cause for hope. But it is still too soon to celebrate, since marketing authorization won’t be enough for them to access these treatments. Indeed, their ability to take these medicines rests on whether or not national governments authorize the drug to be included in public health and other insurance schemes, which is no given.

The importance of approving these drugs for coverage is something that spinal muscular atrophy (SMA) patients are all too familiar with. In December 2016, the US Food and Drug Administration (FDA) approved Spinraza, the first drug for SMA – a hereditary disease that affects roughly 1 in 10,000 live births, causes severe muscle weakening, and is the leading genetic cause of death in infants. In June 2017, the EMA granted market access for Spinraza. Today, however, most European SMA patients still cannot access the drug, as they wait to find out whether their governments will approve reimbursement.

The glass walls that continue standing between SMA sufferers and the only drug that can treat their condition is thus a cautionary tale, and a warning to patients who might otherwise praise the EMA’s most recent round of approvals. The estimated total of 30 million rare disease patients in the EU and their families insist that governments need to be more willing to take the final step if they are serious about making medicines available to all.

Of course, debates around these kinds of rare disease medicines are often fraught. On one hand, critics question why Europe’s public health systems should cover treatments for diseases that affect a small portion of the population. On the other, patients are left wondering why they are denied access to drugs that can mean the difference between life and death.

For SMA patients, the stakes are indeed that high. When the US biotechnology company Biogen first started marketing Spinraza, it was hailed as a breakthrough treatment for what has until now been seen as a debilitating illness at best – and a death sentence at worst. Spinraza has been proven to help patients recapture major motor functions such as sitting, standing, and walking independently and dramatically improving survival rates.

Now, SMA patients across Europe are waiting to find out whether their health authorities will integrate the drug into their accepted (and covered) treatments. The current climate of uncertainty has been nerve wracking for many patients: for example, a British toddler was recently denied access to Spinraza due to NHS red tape, even if the drug’s costs were covered by a local hospital.

At present, Italy and Sweden are the only countries that have made Spinraza available to all patients through the national health system, regardless of age, ability to function, or SMA type. Other EU member states, including Spain, France, the UK,  are in the process of deciding whether to approve Spinraza for coverage.  Already, unfortunately, Norway and Denmark have delayed  approving the drug for reimbursement, negatively impacting SMA patients and their families.

Those sceptical of extending approval for the drug focus primarily on cost, asking why health services should fund treatments for diseases that affect relatively few people. But the public health benefits are clear.

For one, such drugs are designated ‘rare disease’ treatments for a reason. For makers, developing drugs intended to treat a relatively small portion of the population has few economic incentives. As a result, the EU – as well as health authorities in the US and other countries – offers subsidies, market exclusivity, and other incentives to encourage pharmaceutical companies to develop treatments for rare diseases. The EU does not mince its words in staking a clear position on this question, stating that “patients suffering from rare diseases deserve the same quality of treatment as other patients within the European Union.”

For another, it’s undeniable that a person can contribute far more to the economy – and draw much more out of life – when they can perform basic functions unassisted. Spinraza – like the recently-approved Alofisel and Crysvita and other rare disease treatments – allows patients to have a shot at a normal existence. Over the course of a lifetime, then, the money saved by making rare disease sufferers more independent far outweighs the one-off cost of these drugs.

We live in an age when science and medicine can do more than ever, but only if European governments can strike the balance between the impact of rare disease drugs and the constraints of social welfare. With more rare disease therapies in the pipeline than ever, public health officials will no doubt face these challenges increasingly often. But the moral obligation for governments is clear: supporting innovative scientific research – and staving off astronomical healthcare costs for those affected by rare illnesses down the road – makes it critical to take the final step and back coverage for these kinds of drugs.

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