Guideline project: SELECT – S3 Guideline for Cystinosis

After our project application for the development of an evidence-based S3 guideline for the treatment of cystinosis was approved by the Innovation Fund, the project officially started on October 1, 2022. Following two years of intensive work, the project was successfully completed on September 30, 2024.

The goal of the guideline was to improve and standardize diagnostics, therapy, and prevention in cystinosis, as well as to provide evidence-based recommendations for all age groups in both outpatient and inpatient settings.

At the beginning of the project, relevant medical societies in Germany and internationally, as well as more than 80 experts were involved. The International Pediatric Nephrology Association (IPNA) and patient advocacy groups, for example from Germany, Europe, and the United States, also actively participated in the process. Danube University Krems was responsible for the systematic preparation of the evidence, while the AWMF (Association of the Scientific Medical Societies in Germany) provided advisory support.

Over the course of the project, key clinical questions were defined, followed by an extensive systematic literature review. Based on these findings, recommendations were developed within several working groups across multiple meetings. In a final two-day consensus conference, the guideline recommendations were refined and formally agreed upon.

The guideline has now reached consensus and the recommendations have been finalized. The text is currently undergoing editorial revision and preparation for publication. With this guideline, we are closing an important gap in care, as until now only English-language recommendations and no evidence-based guidelines for the treatment of cystinosis have been available.