Not so rare… How an increasing focus on rare diseases is driving innovation in pharma

As 28th February marks Rare Disease Day, we take a look at what used to be seen as a niche area of medical research.

The EU defines a rare disease as one that affects less than 5 in 10,000 people. There are 7,000 known rare diseases that affect 350 million people worldwide. With one in twenty people suffering from a rare disease, rare diseases are not actually that rare at all.

80% of rare diseases have a genetic element and include rare childhood cancers, cystic fibrosis, Huntingdon’s disease and muscular dystrophy. Shockingly, 95% of rare diseases don’t have an approved treatment.

You would think that, by their very definition, rare diseases would be difficult to treat or cure. Pharma companies are increasingly focusing their research and development expertise in this area, however. So why has the spotlight been turned on this area of drug development and what’s in the pipeline?

Incentives driving innovation

Incentives offered in both Europe and the USA in the form of tax cuts, additional funding, market exclusivity and relatively low marketing costs, are driving the increase in the development and manufacture of so-called “orphan drugs,” designed to treat rare diseases that sponsors would otherwise be hesitant to take on.

This in turn reduces the overall cost of the final product to the healthcare provider, making it more commercially viable. With the usual risks associated with drug development minimised by incentives, it’s not difficult to see why pharmaceutical companies are investing in this increasingly lucrative sector.

What rare disease developments are we seeing today?

Earlier this month, Sanofi announced that its speciality care division Genzyme, which focuses on rare diseases, achieved a 37.4% increase in sales. It aims to improve on this growth with its rare blood disorders treatment portfolio, tackling haemophilia, sickle cell and cold agglutinin disease (CAD).

Sanofi has also just been granted FDA approval for the use of the Cablivi injection to treat acquired thrombotic thrombocytopenic purpura (aTTP) — a life-threatening blood clotting disorder, which was given EU approval in September last year.

AstraZeneca was also granted Orphan Drug Designation (ODD) this month by the FDA to Fasrena, used to treat hypereosinophilic syndrome (HES) — a potentially fatal group of diseases which can cause progressive organ damage over time.

Fasrena is also AstraZeneca’s first respiratory biological product, with respiratory diseases being one of the company’s primary areas of drug development.

In January, Novartis’s Kymriah CAR-T therapy was used to treat its first NHS patient with a rare type of leukaemia, where more conventional treatments have failed. Using the body’s own immune response, the CAR-T therapy identifies the patient’s immune T cells, which are then modified to target the cancer, duplicated and injected back into the patient.

NHS England has also agreed to fund another CAR-T treatment, Gilead’s Yescarta, for advanced lymphoma.

It’s not just multinationals and large corporations getting involved in the rare disease sector. A team of scientists from the University of Oxford and the University of Munich founded Intrabio, a biopharmaceutical company focusing on novel treatments for genetic and neurodegenerative diseases.

This month, it received approval to begin a clinical trial of its compound in the US, with plans to conduct further trials in Europe.

If successful, it will be the first FDA approved therapy for the treatment of Tay-Sach’s and Sandhoff Disease, a fatal condition affecting children resulting in the neurodegeneration in the brain and spinal cord for which there is no treatment currently available.

Can artificial intelligence find drugs for rare diseases?

Healx certainly this so. The company has developed the “most comprehensive AI platform for rare diseases” – HealNet. The platform uses machine learning to identify existing drugs which could be used to treat rare diseases. It has already found a potential drug for Fragile-X Syndrome which was ready for the clinic in less than 15 months.

Having raised £10 million in Series A funding last year, Healx’s approach could have a huge impact on getting much needed therapies to patients, and fast.

Med Tech start-up Mendelian has just received a grant of over £500,000 from Innovate UK to help implement its screening software within GP surgeries, using AI to identify patients with potential rare or difficult-to-diagnose diseases.

The trial will run for two years and it is hoped it will be rolled out to other parts of the UK. At the same time, the Rare Diseases Sprint Exemplar Innovation Project, working across five NHS trusts, has won a £400,000 grant from UK Research and Innovation. The project aims to develop a secure cloud research platform, potentially transforming the understanding of rare genetic disorders — improving and speeding up diagnosis.

What jobs are we likely to see in the world of rare diseases?

Given the technical, clinical and medical specialism required for rare diseases, it should be no surprise that we are seeing a demand for pharmacologists, scientists (particularly with cell and gene therapy expertise), statisticians, Medical Directors and Medical Science Liaisons.

With the application of AI, we predict that the need for software engineers and data analysts will increase too. Though accurately predicting how the market is going to play out is difficult right now, one thing’s for sure, we’re going to see a lot of movement in clinical and science over the next few years.

For more fascinating insights into the ever-changing world of the life sciences sector, stay tuned to all SRG Blogs.

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