Dr Marc Martinell had spent several years in drug discovery and biotech, notching up his share of patents and publications along the way, when he decided it was time for a new challenge. The field of rare diseases, where there is significant unmet need, was of personal and professional interest. It was then, in 2011, that he founded Minoryx Therapeutics.

‘My desire to work in rare diseases prompted me to quit my job and create a company,’ he recalls. ‘Today we have a team of 25 in Spain and Belgium developing a promising small molecule in several rare CNS [central nervous system] conditions.’

The company’s clinical trials, including a registration enabling phase 2/3 trial in adult men with a rare spinal cord disorder (AMN), had been progressing well with results expected by the end of 2020. ‘The AMN study had recruited 116 patients which is a lot for an orphan medicine; we had 39 patients with ataxia in another trial; and we were recruiting children for a paediatric study,’ Marc explains.

However, their carefully planned clinical programme was suddenly jeopardised by COVID-19. For smaller companies, advancing research while managing cash flow can be a balancing act. The pandemic threatened this delicate equilibrium.

‘We prioritised patient safety and arranged for nurses to visit patients’ homes to avoid hospital visits,’ Marc explains. ‘In a trial that had not yet started, we postponed recruitment until there were clear guidelines from regulators for us to follow on how to manage these studies safely.’

Despite the rapid response needed – from a team that had abruptly switched to remote working – Minoryx adapted without delaying the clinical timeline. The company still expects to conclude a key study in December which could set them up for a big year in 2021.

‘These are lengthy and expensive studies because recruitment takes a year, the treatment regimen takes two years, and then patients may move into an extended study,’ says Marc. ‘Ensuring patient safety is the priority, so site visits have been affected. Nonetheless, we managed to implement measures such as home nurses and we do not expect major delays in the expected results of ongoing studies.’

SMEs vs rare diseases

Smaller biotech companies, like Minoryx, have a big role to play in tackling rare diseases. More than 30 million Europeans are living with a rare disease, but there are no licensed treatments for 95% of these conditions.

The number of individuals affected by a rare disease can be small, making it more challenging to conduct clinical trials and to raise funding. In the EU, a number of incentives have been developed to address this.

In 1999, the Committee for Orphan Medicinal Products (COMP) was created at the European Medicines Agency (EMA) and market exclusivity is available for authorised orphan products. The number of new orphan medicines, and the number of products in the pipeline, has increased significantly in the wake of these policy interventions.

‘These incentives are very valuable for SMEs,’ says Marc. ‘They give some security once you reach the market. Without this, it would be more difficult to build a business. Orphan drug designation is part of our initial fundraising pitch, along with having well-designed studies and an innovative potential treatment that would address a clear unmet patient need.’

Patient's need

With clinical work still on track, Minoryx is looking to the future. While smaller companies may struggle if trials are delayed or fundraising efforts are disrupted, next year holds great promise for the young company.

‘The pandemic generated another layer of uncertainty that nobody expected at the start of the year,’ says Marc. ‘But the team adapted to the new reality and now we are optimistic that our clinical results in December will be a transformative moment for us. We are beginning to talk to partners about a path to the market – because, in the end, we want a treatment that reaches patients.’

Minoryx’s story illustrates the perilous path small companies must take to the market, but highlights SMEs’ flexibility as they strive to meet the needs of people with rare diseases.