Nominated by: Sobi, Swedish Orphan Biovitrum 

Organisations in nomination: DevelopAKUre Consortium

AKU is a serious, multi-system disorder affecting approximately 1 in 250,000 people, first described as early as 1902 by Archibald Edward Garrod.

Morbidity is caused by inability to metabolise the amino acid tyrosine, resulting in increased levels homogentisic acid (HGA). This leads to early onset, severe arthritis, with disability and significant need of health care interventions such as multiple joint replacements as a result.  Patients report constant pain, difficulty with daily living activities, poor sleep, depression, poor quality of life, and unemployment and isolation is common.

In 2012, a European Union project called DevelopAKUre (FP7, Grant number 304985) brought together scientists, patient organisations, regulatory and clinical trial experts, to improve the understanding of alkaptonuria, and deliver a clinical development programme for the first ever treatment (Orfadin®, nitisinone).  The collaborative project was a paradigm-shift for joint efforts across multiple parties as a model for rare disease advances for patients.

For the first time, studies identified the appropriate dose needed in AKU as well as demonstrating improved clinical parameters and Orfadin® was approved by the EMA in 2020.

The unique consortium further provided clinical development innovation in rare disease, sharing lessons learned and best practice with the wider community on collaboration across academia-patients-industry.

References:

• FP7 project: Clinical Development of Nitisinone for Alkaptonuria
• Efficacy and safety of once-daily nitisnone for patients with alkaptonuria 5SONIA 2): https://www.thelancet.com/journals/landia/article/PIIS2213-8587(20)30228-X/fulltext
• First treatment for rare metabolic disorder alkaptonuria: https://www.ema.europa.eu/en/news/first-treatment-rare-metabolic-disorder-alkaptonuria