Non-profit alliance aims to advance treatments for rare diseases

It is now more than a year and a half since Erik Tambuyzer, former Genzyme senior vice president, got together with other experts to launch a not-for-profit consortium to promote the translation of new understanding of disease biology into treatments for rare diseases.

The aim of the BioPontis Alliance is to fill a gap in the discovery and development pathway by raising money from charities, companies and individuals to fund preclinical discovery projects in rare diseases and advance programmes to the point where they are de-risked and can be fed into the end of the clinical development pipelines of pharma companies.

“It is the first non-profit organisation to work on preclinical research on rare diseases,” Tambuyzer, told Science|Business.  “It’s a new drug development model, and there isn’t a similar model anywhere else in the world,” he claimed.

In effect, BioPontis will fill the gap between the typical outputs of grant-funded academic research and a project that is ready for clinical development.

The Alliance, first launched in the US in 2014, is chaired by Tambuyzer, with Marlene Haffner, the former Director of the Orphan Products Development Office at the US Food and Drug Administration (FDA) as vice chair.

In this position Haffner oversaw the implementation of the US Orphan Drug Act, which put in place incentives for companies to develop treatments for rare diseases and formed the model for similar legislation in the EU.

“She has the regulatory expertise that is essential in drug development, especially for funding pre-clinical research and translating results to industry,” says Tambuyzer.

In 2015, a separate foundation was set up in Brussels, run by the same board and management, forming the European base of the BioPontis Alliance.

The CEO of BioPontis is Barbara Handelin, a veteran molecular geneticist. Richard Basile, a biopharmaceutical executive who was in charge of a $1.2 billion international biologics unit at Bayer AG, is in charge of business operations. 

Rare diseases and the treatment gap

There are an estimated 7,000 to 8,000 rare diseases, covering a wide range of pathologies. In many cases, so little is known about a specific condition that people cannot even get a diagnosis.

More patients are affected by a rare disease than HIV and cancer combined, Tambuyzer notes. “But only 5 per cent have any treatment, while new research in genetics and biology brings a watershed of discoveries and capabilities.”

Orphan drug incentives put in place by the European Union have spurred increased pharma interest in the area and as a result more drugs are being developed – figures released this week show the European Medicines Agency approved 18 new rare disease therapies in 2015.

But this still leaves huge unmet medical need, with Tambuyzer pointing in particular to rare diseases of the brain and central nervous system, which are not sufficiently addressed by current approaches. “In this area there is the highest need for alternative drug development models,” he says.

Drug development is long and very expensive. Much promising academic research never makes the cut because grant funding does not provide the resources to advance projects to the point where there is solid in vivo preclinical data. Pharma companies will only start investing when this de-risking is done and many of them are not doing any preclinical research of their own, argues Tambuyzer. “They are not often willing to take risks for rare diseases, especially in the preclinical stage when the risks run very high.”

A non-profit model is one way of doing what traditional models cannot. “We [aim to] fill this gap and fund projects that are in the translation stage, between basic science and [preclinical] proof of concept,” Tambuyzer says.

To do this, the BioPontis Alliance draws on a world-class contract research network, assembling a team of experts for each rare disease project it funds. Scientists plan and manage the discovery research, working closely with patients’ organisations to identify and vet research that looks promising.

The Alliance is establishing partnerships with patients’ organisations and academic research centres in the formation of Rare Disease Joint Venture-partnerships, allowing patients and academic and industry scientists, to collaborate.

Once programmes are ready for commercialisation, products may be licensed to pharma companies, spun-off into new start-ups, or taken forward by the BioPontis Alliance. Any financial returns will be reinvested into research projects.

Part of something noble

Financing such high risk, long term research is not easy. The Alliance believes companies, foundations and individual investors will see the social value of getting involved.  “They will feel they are part of something noble,” said Tambuyzer.

To get the ball rolling, BioPontis recently received a major gift from Baillet Latour Fund (BLF), one of the biggest philanthropic organisations in Belgium, founded by a former shareholder of the brewer Stella Artois. The funding enables BioPontis to start working on a potential treatment for the neurological disease, Charcot-Marie Tooth (CMT), its first target.

Tambuyzer anticipates that BioPontis will underwrite several CMT research projects, each taking approximately four years to complete. “We have already started a research project focusing on CMT, and are identifying others” he says.

BioPontis has also found its first corporate sponsor, Dublin-based Shire plc, which this week announced the takeover of the US company Baxalta Inc, in a $32 billion deal that will create the largest rare diseases specialist in the world.

And Tambuyzer added, “We have recently received the first large individual donation.”

From a fundraising and operational point of view, BioPontis is “off to a good start,” Tambuyzer said. “But more money is needed as we are planning to support four to five projects in the next few years and hire more people.”