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Rare Diseases February 2019

Are we on the cusp of a rare disease treatment revolution?


Dirk Moritz PhD

Principal, Rare Diseases Blue Matter Consulting

Continued innovation and collaboration are key if we are to see a major breakthrough in the treatment of rare diseases.

Individual rare diseases may impact just a handful of people. Collectively, however, a large number of people – 30 million in the EU and 350 million worldwide – have a rare disease. According to Dirk Moritz from Blue Matter Consulting, this makes it a huge public health issue.

“There are an estimated 7,000 rare diseases,” says Moritz. “Most are undiagnosed, and only about 5% have an approved treatment. Sadly, since most are of genetic origin, they manifest early and predominantly affect children.”

The sheer number of rare diseases, the complex nature of many and the fact that patients are rare and spread across the globe, pose specific challenges to biopharmaceutical companies. These challenges must be overcome to support the millions of people living with these often life-threatening conditions.  

Finding patients can be challenging

The first step to finding a treatment is to understand as much about the condition as possible. With rare diseases this can be immensely challenging, as the relatively few patients are typically dispersed globally and may present with different symptoms and levels of progression. Similarly, the specialist academics and medical professionals working on those diseases are scattered internationally. Except among a few experts, awareness of a given condition is generally low. Getting a definitive diagnosis can take years.

“Companies must define the diagnostic criteria, search for and identity patients. If there are only a handful, it’s difficult,” continues Moritz. “For companies, developing rare disease treatments remains risky and challenging. The required investment is high, and there’s no guarantee of success.”

Government regulations and incentives for rare diseases have led to the development of new treatments. This has helped, but as Moritz points out, “We now have about 500 treatments for only 5% of all rare diseases.” Due to small patient numbers, prices are typically high with treatments often costing between US$300,000 and US$750,000 per year, according to the Rare Disease Report. “It’s critical that rare disease companies demonstrate the value of novel treatments and evolve current payer models,” adds Moritz.

Breakthroughs in gene and cell therapy research in treating rare diseases

The challenges are real, but not insurmountable. Moritz believes that innovation is key to driving development and that collaboration between companies and key rare disease players will make that happen. In recent years, there have been huge developments and Moritz is excited about the future.

Decades of research into gene therapy are now paying dividends with recent breakthroughs for conditions such as spinal muscular atrophy (SMA), thalassemia, and rare eye diseases. Moritz cites more than 1,000 ongoing gene and cell therapy studies in development and expects to see some key regulatory approvals in 2019.

“Gene therapy potentially offers the promise of a cure,” he enthuses. “It is clear that gene therapies work; the key question now is whether companies can find a way to successfully commercialise them. I believe we will witness in our lifetime a complete transformation of the treatment of rare diseases.”

Moritz is excited about the future but points out that innovation mustn’t stop here. Novel thinking, regarding not just research and development, but also commercial aspects of how therapies are provided to patients, is essential to realise this promise.

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