Rare Diseases and Orphan Drugs

Summary of work

Hereditary type 1 tyrosinaemia (HT-1) is an ultra-rare genetic disorder in which the body cannot metabolise the amino acid tyrosine. It typically presents in infancy and left untreated can lead to significant complications and death. Little was known about the self-management needs of families living with HT-1. There was a paucity of high-quality information and support, leaving families feeling isolated, unsupported and under-informed.

To address these unmet needs, Let’s Talk Tyrosinaemia (LTT) - a global suite of free support tools - was developed by Atlantis Healthcare and Sobi for HT-1 families and healthcare professionals (HCPs). The tools were shaped by our qualitative and quantitative research, published in the Journal of Inherited Metabolic Disease, which highlighted barriers to adherence (low-tyrosine diet and medication). It was co-created with clinical psychologists, specialist nurses, dietitians and carers to provide practical and psychoeducational support. Comprehensive guides were designed to empower and support HT-1 families and HCPs to optimally manage the disease. The guides deliver health-psychology techniques within engaging consumer-style content and design.

To date, LTT has been implemented in UK, France, Spain, Italy, Germany and USA and has received unprecedented feedback from families and HCPs alike. Launched in October 2014, over 1,100 copies have been distributed worldwide.

Judges' comments

The Let’s Talk Tyrosinaemia programme obviously had an impact thanks to its holistic approach. The comprehensive execution received good feedback and provided excellent materials to drive its message home. The work was well-researched and robustly reviewed, and consequently generated good customer insight.