Dr Nick Sireau

Chair & CEO, AKU Society; Chair, Beacon for Rare Diseases

Nick Sireau

Nick is the father of two boys with the ultra-rare genetic disease Alkaptonuria (AKU) and a passionate advocate for rare diseases.

Nick Sireau, PhD, is the CEO and Chair of Trustees at the AKU Society, a patient group that helps people with AKU, a rare genetic disease affecting both his children. The AKU Society and Nick are the winners of the 2021 Members Award by EURORDIS (the European Organisation of Rare Diseases) because of their work on successfully developing a new treatment for AKU. Nick is co-founder and Chair of Beacon, an organisation that helps all rare disease patient groups. He is the editor of ‘Rare Diseases: Challenges and Opportunities for Social Entrepreneurs’ (Greenleaf 2013) and of the ‘Patient Group Handbook: A Practical Guide for Research and Drug Development’ (Beacon 2016).

KU (also called Alkaptonuria, or Black Bone Disease) was the first disease ever to be shown to be inherited, in 1901, and hence has a place in all the medical history books. It is an ultra rare genetic disease that causes severe joint deterioration, spinal collapse and many other devastating symptoms.

The AKU Society has spearheaded over the past 20 years a global movement that has successfully developed a drug called nitisinone as a highly effective treatment for this disease. The European Medicines Agency approved the drug in September 2020, following a seven year clinical development programme with phase 2 and phase 3 studies – the latter being the largest ever clinical study of an inborn error of metabolism ever carried out.

Yet the story does not end there. The AKU Society – working closely with a team of world-class scientists and clinicians from the University of Liverpool and the Royal Liverpool University Hospital – is now at the forefront of several initiatives to take this work forwards:

  1. Developing new therapies, including mRNA, gene and small molecules to completely restore the metabolism of AKU patients to normal, avoid the side effects of nitisinone, and then translate these therapies to numerous other rare genetic diseases such as PKU, Hereditary Tyrosinaemia Type 1 and others.
  2. Growing a global movement of AKU patient groups: we have already helped set up AKU societies across Europe, North America and the Middle East and are now setting our sights on Asia and the Pacific to ensure AKU patients everywhere can access treatment.
  3. Helping develop nitisinone as a way of combating malaria. AKU Society co-founder and world AKU expert Prof Ranganath is working with a team originally from the Liverpool School for Tropical Disease to develop nitisinone as a way of killing disease-bearing mosquitoes in developing countries.

Come to our session to find out more!

Rare Research and Funding

Rare Disease researchers take part in a poster and pitch session to share their novel approaches to engaging patients in research. Then joined by a panel of research funders to explore the challenges, opportunities and novel approaches to funding this vital research.

My three wishes for rare disease are: much more funding for research; better diagnosis and care for patients; and more funding for patient groups.