EUROPEAN ADTKD-REGISTRY

An ADTKD registry is currently being established in Europe. Coordination is being handled by Charité – Universitätsmedizin Berlin. The project has been running since mid-2024 and will run for three years. The consortium is funded by the European Joint Programme for Rare Diseases (EJO RD JTC 2023).

HOW CAN I TAKE PART IN THE REGISTRY STUDY?

ADTKD patients can be included in the European ADTKD.net registry following appropriate information and consent. Participation is voluntary and the data is anonymised to such an extent that the original individual cannot be traced. Every ADTKD patient can support research and, in turn, the development of treatments in this way. If you are interested, you or your doctor are welcome to send an email to Charité: paulina.richter-pechanska(at)charite.de or contact one of the European experts.

DIAGNOSING MUC1 IS A CHALLENGE

The main objective is to establish a European registry for ADTKD patients. Autosomal dominant tubulointerstitial kidney disease is a rare inherited condition characterised by progressive kidney scarring. As affected patients have few symptoms, the diagnosis is often missed or misdiagnosed and is frequently delayed. Genetic testing is essential for an accurate diagnosis, but proves difficult in the case of the very common ADTKD-MUC1 subtype.

There are currently no specific treatment options available. However, experimental studies have raised hopes for potential therapeutic options, which are to be tested in clinical trials in the future.

FIRST EUROPEAN OBSERVATIONAL STUDY FOR ADTKD

As part of ADTKD-Net, existing national cohorts from several European countries are being brought together and expanded through the established platform of the European Reference Network for Rare Kidney Diseases (ERKNet). The standardised dataset will contain information on the manifestation and progression of the disease, imaging procedures, genetic testing, and blood and urine analyses. The ADTKD registry is an important foundation for clinical trials.

IMPULSE FOR BIOMARKER RESEARCH
A second objective of ADTKD-Net is to improve the unsatisfactory situation regarding the diagnosis of ADTKD. Therefore, new biomarkers based on urine, histology and imaging (MRI) are being investigated for their suitability in reflecting the severity and progression of the disease. This is of the utmost importance for the planning of study designs. Non-invasive biomarkers such as urine, blood and imaging techniques should be preferred over invasive procedures such as biopsies.