Cystinosis Diagnosis and Management Advice Service

Description

Cystinosis is a very rare inherited lysosomal storage disease presenting in infancy (95% of cases) with severe kidney disease but subsequently involving multiple organs (eyes, thyroid, liver, diabetes, muscle deterioration). Patients often present to paediatric nephrology services although multi organ disease requires multi-speciality input. Effective drug therapy and renal transplantation now allows survival into the fifth decade. This project comprises a market engagement exercise to ascertain the competition and capacity within the market including potential collaboration opportunities amongst providers. Following this, where there is a single provider expressing an interest in a Lot who would be able to meet the requirements, direct awards may be made. Where there are several providers within a lot, a further ‘light-touch’ one stage provider selection approach will be required.