Leading biotech says Big Pharma could help accelerate market introduction for rare disease drugs

SynaptixBio, the only company developing a treatment for a rare but deadly disease, says smaller biotech companies could partner with Big Pharma to bring new drugs to market

The world’s largest pharmaceutical companies have in recent years become more attracted to developing drugs for rare diseases, known as orphan drugs, partly due to Government incentives and the emergence of new technologies, but also because the market for them is booming.

Meanwhile, smaller biotech companies have tended to focus on developing one or two specific orphan drugs, but according to SynaptixBio, the only company developing a treatment for a rare, deadly and currently incurable disease, this could lead to a mutually beneficial relationship, ultimately to better outcomes for those with a rare disease and their families.

Dan Williams, CEO at SynaptixBio, observed: “Smaller biotech companies like SynaptixBio carry out or sponsor primary research into potential therapies, which can be an expensive, hit-or-miss exercise.

“However, once a candidate orphan drug has passed toxicology tests and gone through clinical trials, Big Pharma’s strengths in navigating regulatory approvals, making deals with Governments and health services, and manufacturing, could then prove vital.”

Dr Williams added; “There are over 7,000 known rare diseases, and that number is growing. However, advances in technologies like gene sequencing have made it easier and cheaper to identify rare genetic disorders, which has made them more attractive for the large drug developers.”

Oxford-based SynaptixBio is the first and only company developing a treatment for TUBB4A leukodystrophy, a rare but deadly neurodegenerative disease that mainly affects babies and young children.

In the UK, a rare disease is defined as a condition that affects fewer than 1 in 2,000 people in the population.

For Big Pharma, Government incentives started in the US in 1983, then in Japan 10 years later and in the EU in 2000; these included periods of market exclusivity, ensuring developers could gain a dominant market share – and enjoy high prices.

But perhaps the size of the opportunity is now the driving factor; the global rare disease treatment market reached more than $195 billion in 2022, according to a report from GMI Insights that also predicts double-digit growth over the next decade.

And it’s largely untapped; with up to 400 million people worldwide affected, and about 90% with no treatment, it’s a big field.

At the other end of the scale, SynaptixBio is a virtual company, employing just one full-time and two part-time staff. It contracts world-leading research and development labs and industry experts to conduct primary studies and prepare for clinical trials. These trials can cost tens of millions of dollars, but the virtual approach can reduce this dramatically.

Dr Williams added; “Relatively new technologies, such as gene therapy and antisense therapy, which we are using to tackle TUBB4A leukodystrophy, have enabled us to target these diseases in a way that would not have been possible just a few years ago.

“The big drugs companies will always have enormous overheads, which can inhibit innovation and investment in orphan drug development, but they can become involved at a later stage in the process, for example in manufacturing.”

With SynaptixBio’s very low overheads, all investment is ploughed into research and development. In addition, all logistics, legal and HR functions are outsourced.

SynaptixBio’s founders planned from the outset with growth in mind. Their business model is innately designed to scale; with the freedom to partner with anyone, the only limitation to growth is the availability of resources.

Disease reseach is carried out by the world's leading centre for leukodystrophy studies, the Children's Hospital of Philadelphia (CHOP), under a sponsored research agreement.

SynaptixBio has signed a worldwide exclusive license to intellectual property from CHOP, enabling commercialisation of a treatment​.

In addition, the company has achieved the prestigious Orphan Drug Designation from the US Food and Drug Administration, which allows tax credits against research costs, as well as exempting them from some regulatory fees.

This adds to the award of a Rare Paediatric Disease designation, with SynaptixBio now setting its sights on a Priority Review Voucher to accelerate market access. It is predicted that in-human clinical trials can begin in 2024.

First identified in 2015, TUBB4A-related leukodystrophy is caused by a mutation in the TUBB4A gene, resulting in disruption to the signals between nerve cells in the brain.

Dr Williams concluded; “The impacts on patients and families affected by a rare disease like TUBB4A are enormous and devastating; it is incumbent upon government, the medical community and drugs developers to work together to help alleviate those impacts.

“The virtual business model shows how smaller biotech companies can create therapies that will make a real difference to the lives of those patients and families.

“It is possible that, in future, small biotech companies could partner with Big Pharma, such that the larger organisations can leverage the work done, to turn ground-breaking research into desperately needed rare disease drugs.”