New evidence on cystinosis – foundation for the SELECT-S3 guideline

Cystinosis is a rare disorder with severe consequences if not diagnosed and treated early. A new article in the Orphanet Journal of Rare Diseases systematically reviews the current evidence on diagnosis and management.

Analysis of 56 studies revealed:

• Only a few questions are backed by robust evidence
• Most results are based on very low certainty
• Early cysteamine therapy benefits kidney function
• Delayed-release formulations show no clear advantage

The findings highlight the urgent need for stronger research – and provide the evidence base for the new SELECT-S3 guideline on cystinosis.

Read the publication: Link