Raising awareness of Rare Disease

Each year, Rare Disease Day aims to raise awareness of rare diseases and encourage positive change to patients’ lives. A disease is considered rare when it affects fewer than 1 in 2,000 people and there are 300 million people with rare diseases across the world.1 On Rare Disease Day 2023, we want to celebrate the work of our clients and how they are helping patients with rare diseases.  


Alchemab Therapeutics is harnessing a revolutionary way of finding new drug targets by understanding the unique features of the antibody response of resilient individuals. Alchemab has discovered a panel of antibodies through its platform and hopes that this will lead to a disease modifying therapy for Huntington’s Disease. Huntington’s Disease is a devastating neurodegenerative disorder for which there is no cure or treatment to slow or stop disease progress, only treatments to help manage the symptoms. 

iOnctura is a clinical-stage biotech developing selective cancer therapies against targets that play critical roles in multiple tumor survival pathways. IOA-244, its lead cancer drug, is in development for solid and hematologic malignancies including uveal melanoma, a rare cancer originating in the tissues of the eye and causing symptoms such as blurred vision or a dark spot on the iris. When the cancer metastases, which it does in approximately 50% of patients, there are limited treatment options and projected overall survival is only a year. 

Calliditas Therapeutics is a commercial stage biopharma company based in Stockholm, focused on identifying, developing and commercializing novel treatments in orphan indications, with an initial focus on renal and hepatic diseases with significant unmet medical needs. Calliditas is dedicated to identifying and developing novel treatments for diseases that affect fewer than 200,000 individuals in the United States and establishing new standards of care for people with rare diseases. 

F2G is a clinical-stage biopharmaceutical company focused on the discovery and development of novel therapies to treat life-threatening invasive fungal infections. Olorofim (formerly F901318) is F2G’s leading candidate from this class and has fungicidal activity against a broad range of mould infections, including a variety of rare and resistant moulds that cause life-threatening infections for which current therapies have limitations or are ineffective. 

Novo Holdings manages the assets and wealth of the Novo Nordisk Foundation. Among its Life Sciences investments are many that seek to provide therapeutic relief to rare diseases. We have had the privilege of advising a number of its portfolio companies including: 

  • Amolyt Pharma – working on rare endocrine and related diseases, such as hyperparathyroidism and acromegaly.  
  • Galecto Biotech – currently in phase 2 trials of its Idiopathic Pulmonary Fibrosis programme.  
  • HEMAB Therapeutics – focused on bleeding and thrombosis disorders. 
  • Muna Therapeutics – working on neurodegenerative diseases.  
  • NMD Pharma – developing novel treatments for neuromuscular diseases including Myasthenia gravis (phase 3) and Spinal Muscular Atrophy Type 3 (received IND clearance to start a phase 2 trial).  
  • Verona Pharma – working on several respiratory diseases, including Cystic Fibrosis.  Currently in phase 2 trials using Ensifentrine, a first-in-class, inhaled, dual inhibitor. 

The BioInnovation Institute Foundation (BII) is an international enterprise foundation with a non-profit objective, which operates an incubator to accelerate world-class life science innovation. It supports innovation that drives development of new solutions by early life science start-ups for the benefit of people and society. An example of one of the BII early incubate companies is BOOST Pharma, a novel cell therapy company developing treatment solutions for Osteogenesis Imperfecta (OI), or Brittle Bone Disease. 

Bionical Solutions is a leading provider of technology enabled engagement and healthcare services to global pharmaceutical, biotech, healthcare companies and the NHS to deliver better access to medicines and improve patient adherence with prescribed treatments. MED Select™, Bionical’s proprietary tech-enabled software for the US, UK and international Pharma clients, supports healthcare providers’ education and decision making and assists with identifying patients with complex rare diseases. 


Thanks to the amazing work carried out by these companies and others, advancements in the treatments needed for these diseases are constantly being made.