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Excellence in Rare Diseases and Orphan Drugs

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Highly Commended

Advancing Science in a Rare Disease – A Cost Effective Clinical Decision Support Programme for Cystinosis

by Raptor, Horizon and Chiesi with support from Lucid Group

Summary of work

Cystinosis, a rare disease, causes amino acid, cysteine, to accumulate in multiple organs. Without treatment, children with cystinosis develop end-stage kidney failure at approximately age nine. At least 2,000 individuals worldwide have cystinosis, perhaps more, because it is often undiagnosed.

With such small numbers, patients themselves often know more than their treating physicians. Management is suboptimal, reimbursement issues exist, and QoL for patients often a minor consideration in prescribing decisions.

Procysbi – developed originally in response to patient demand, was granted authorisation in 2013. The arrival of this second-generation, cysteine-controlling therapy gave a new impulse to treatment. It was clear that with limited data, treatment was organised on personal experience. Access to the collective knowledge of the entire community would enable tremendous benefits for both patients and physicians.

Lucid proposed uniting the expert community and facilitating a set of clinical recommendations through consensus. We developed a bespoke online consensus tool that enabled the creation of a set of clinical recommendations, at reasonable cost and in a good time frame. As traditional models require high levels of investment, with live meetings involving international travel, this tool provides multiple contact, on-demand access for experts, and lowers the barrier for non-native English speakers.

Judges' comments

The Cystinosis campaign supported an under-served area with clear reference to the need within it. It had lots of multi nodal learning, was insightful and took the time to gather feedback at all events. An insightful lesson learnt.

Highly commended

Highly commended

Infantile Onset Pompe Disease Schools Pack - by Sanofi Genzyme with support from Aurora Healthcare Communications


Key dates

Entry deadline 26 August 2022
Extended entry deadline 2 September 2022*
*additional fee applies
Judging Day 6 October 2022
Company/Team of the Year Interviews 21 October 2022
PMEA Event 23 November 2022