Workgroup Metabolic nephropathies & stone disorders

New ePAGs
The working group welcomes Mariann Molnár, from Hungary who is a representative of the Primary Hyperoxaluria (PH) community. 

RHINE Project focusing on Stone Forming Diseases
Collaboration between ERKReg, OxalEurope, and Novo Nordisk to analyze diagnostic delays and outcomes in Dent’s Disease, Cystinuria, and Primary Hyperoxaluria. Over 1,500 patients included.

Guideline Updates
MMA guideline accepted in Kidney International Reports; Dent guideline to be published in NDT.

Ongoing Data Collection & Surveys
ERKReg data on Cystinuria and Fabry Disease presented and follow up projects planned. New registry projects proposed for Fanconi Bickel Syndrome, in collaboration with MetabERN.

Change of WG chairs
Francesco Trepiccione will be the new speaker. Aude Servais is stepping down after seven years as chair and speaker of the working group. We would like to thank her very much for her outstanding commitment to the community. Detlef Böckenhauer was elected as the new co-chair.

Fabry Disease & Registry Gaps
Several countries have not yet entered Fabry disease data into ERKReg, and approximately 30% of existing entries lack treatment documentation. A new Working Group initiative has been launched to analyse treatment patterns and improve data completeness.

Joint Efforts with MetabERN
There is strong interest in collaboration between ERKNet and the Metabolic ERN (MetabERN). Plans include joint webinars, shared guideline development, and the harmonisation of registries to streamline data collection and analysis.

KPI Task Force Established
A dedicated KPI Task Force has been formed to review and refine key performance indicators. Focus areas include cystinosis, cystinuria, growth, and Fabry disease, with an emphasis on recent diagnoses and benchmarking across ERKNet centres.

Cystinosis: Data & Subregistry Plans
Only 50% of cystinosis patients in ERKReg have genetic confirmation. A proposal was made to improve classification between infantile and juvenile forms. A new ERKReg subregistry is in planning to support more granular research.

Access Issues for Cystine-Binding Therapies
Around 30% of patients lack access to Tiopronin. Amsterdam UMC is developing a generic version, though regulatory restrictions currently limit cross-border access, highlighting the need for European coordination.

New Collaborative Research Projects
Several exciting research initiatives were introduced:

• A multicentre EUROCYS study on SGLT2i therapy in cystinuria
• An observational study on the link between antenatal hyperechoic colon and disease progression
• A project investigating CLDN16 variants and kidney stone disease, exploring a promising low-cost treatment option.