With Rare Disease Day falling on 28 February, PharmaBoardroom dedicates this month to exploring the global rare disease landscape, highlighting key trends and developments as well as profiling the most innovative global players in this space. We start the party off with five of the most promising clinical-stage biotech companies developing orphan therapies.
In Europe, a rare disease is defined as a disease that affects fewer than 1 in 2,000 people. An estimated 6,000 to 8,000 rare diseases are said to exist globally, with the vast majority having a genetic origin, being chronic, and more often than not life-threatening. According to the European Commission (EC), an estimated 30 million people in the European Union (EU) suffer from a rare disease.
The EU is widely seen to have played a fundamental catalysis role in the global development of orphan therapies with its landmark European regulation 141/2000 introducing a set of incentives intended to boost industrial development of rare disease therapies, which, until then, had mostly been neglected by the pharma sector due to the challenges of developing and commercializing therapies for the small rare disease patient populations that are also often geographically dispersed.
The impact of this legislation cannot be overestimated. Between 2000 and 2018, 3,210 orphan drug designation applications were submitted, of which just over two-thirds were accepted. However, to illustrate the ongoing challenges associated with rare disease drug development, only 164 – a measly 7.7 percent – of these designated products ultimately resulted in regulatory authorization.
We take a look at five of the most promising orphan drug developers in the region:
Location: Cambridge, UK
Healx touts itself as having created “the world’s most efficient AI platform for rare diseases”. Healx uses artificial intelligence to analyze extensive medical research data with the goal of repurposing existing drugs to treat rare diseases. The company’s most advanced program in fragile X syndrome took less than two years to reach the clinic – versus the average of five to seven years. Healx has also set an ambitious mission to advance a staggering 100 rare disease treatments towards the clinic by 2025. Co-founder and CEO Dr Tim Guilliams is also the co-founder and trustee of the Cambridge Rare Disease Network (CRDN).
The company raised a USD 56 million Series B round in October 2019. A month later, the start-up committed USD 20 million to establish a Rare Treatment Accelerator program, which offers patient advocacy, academic and industry groups the opportunity to work with Healx to develop new treatments for rare diseases.
Location: Cambridge, UK
Founded by Nobel prize winner and University of Cambridge professor Sir Greg Winter, Bicycle Therapeutics has developed a new and unique class of drugs called bicyclic peptides – or Bicycles® – that purports to combine “the pharmacological properties normally associated with a biologic with the manufacturing and pharmacokinetic advantages of a small molecule”. CEO Dr Kevin Lee joined Bicycle Therapeutics from Pfizer where he served as SVP and CSO of the Rare Disease Research Unit, and fittingly, rare disease is one of the priorities of Bicycle Therapeutics.
Their lead candidate, BT1718, is in a Phase I/IIA trial in advanced solid tumours sponsored by Cancer Research UK. It targets Membrane Type 1 Matrix Metalloproteinase (MT1-MMP), also known as MMP-14, which has an established role in cell invasion and metastasis and is linked to poor outcomes in cancer patients.
In 2019, Bicycle Therapeutics raised USD 61 million in a Nasdaq IPO. In February 2020, it announced a strategic collaboration with Genentech to discover, develop and commercialize novel Bicycle®-based immuno-oncology therapies; the biotech received a USD 30 million up front payment, with the total value of the collaboration potentially reaching USD 1.7 billion.
Location: Basel, Switzerland
Spun off from another Basel-headquartered company, Therachon, in 2019, following Therachon’s acquisition by Pfizer, VectivBio has assembled a best-in-disease pipeline in rare disease. Their lead program is a next-generation GLP-2 analog targeting Short Bowel Syndrome; the company recently dosed its first patient in its pivotal Phase III trial.
Founder and CEO Dr Luca Santarelli was co-founder and CEO of Therachon, and previously served as SVP and Head of Neuroscience, Ophthalmology and Rare Diseases, as well as Small Molecule Research at Roche.
In October 2020, it closed a USD 100 million crossover financing round, with proceeds mostly intended to fund Phase 3 clinical operations of its lead program.
Location: Strasbourg, France
Established as a spin-off from the Institute of Genetic and Molecular and Cellular Biology – Unistar/INSERM/CNRS (IGBMC) in Strasbourg, this biotech is focusing on novel therapies to address myotubular and centronuclear myopathies, or CNM, a group of congenital myopathies characterized by severe muscle weakness, genetic heterogeneity, and defects in the structural organization of muscle fibres.
Its lead program, DYN101, an antisense oligonucleotide or ASO, is designed to reduce the expression of dynamin 2 or DNM2, for the treatment of CNM, and is currently in Phase I/II trials. It received US FDA rare pediatric disease designation for DYN101 in July 2020.
CEO Dr Stéphane van Rooijen started his career in strategy consulting at Arthur D. Little before moving to Genzyme and Viropharma, and subsequently founding his own biotech company, Confo Therapeutics.
In April 2020, Dynacure raised USD 55 million in a Series C financing round.
Location: Barcelona, Spain
Catalan biotech company Minoryx Therapeutics has set its sights on developing treatments for multiple orphan CNS disorders. Its lead program is a novel, selective PPAR gamma agonist already in registration-enabling trials for adrenomyeloneuropathy (AMN). It has also been granted Orphan Drug Designation by both the EC and the US FDA.
Co-founder and CEO Dr Marc Martinell previously worked in a number of other biotech companies, including Crystax Pharmaceuticals and Oryzon Genomics.
In October 2020, Minoryx received USD 30 million from the European Investment Bank to support its development of breakthrough therapies.