Understanding the NAXCARE Registry: A Global Effort to Study a Rare Genetic Disease
“Naxos disease” is a rare inherited condition that affects both the heart and the skin. It is called after the Greek island of Naxos where it was discovered first and most people with this rare disease live. People with Naxos disease often have unique skin and hair features—like woolly or sparse hair and thickened skin on the palms and soles—along with serious heart muscle disease that can lead to life-threatening arrhythmias and heart failure. Because this disease is so rare and complex, physicians around the world often struggle to diagnose and treat it effectively.
To address this challenge, an international team of experts launched the NAXCARE registry. NAXCARE stands for: NAXos disease and Cardiocutaneous Assessment and Registry for Evaluation). It is a global project to collect and analyze medical information from people with Naxos disease and similar conditions. These diseases are known collectively as cardio-cutaneous (heart-skin) syndromes (CCS). The goal of this registry is to better understand how these diseases develop, improve diagnosis and treatments, and ultimately improve patients’ lives.
The registry includes patients of all ages—from infants to adults—who show signs of both heart and skin abnormalities. Doctors and researchers from many medical centers worldwide support and participate in this project. They will collect both old and new patient data, with strict oversight to protect patient privacy. The information gathered includes family history, physical symptoms, lab tests, imaging scans, genetic findings, and treatment outcomes. It also includes a “virtual biobank” where researchers can see whether specific samples (blood, skin, hairs) are stored and are availbale for research. A secure online system ensures that data is stored safely and can be shared for analysis.
Diagnosis relies on a combination of tools of whose results are collected. Electrocardiograms (ECGs) and Holter monitors are used to detect abnormal heart rhythms. Echocardiograms and cardiac MRI help to see the structure and function of the heart. Genetic testing results are another part of the registry, as it helps identify the specific gene variants linked to the disease.
The NAXCARE registry also collects information about treatment, including medications that control arrhythmias, use of implanted defibrillators, and heart failure therapies. It follows patients over time to see how disease develops, how they respond to treatment, and how the disease affects quality of life and ability to work or go to school.
NAXCARE also aims to use machine learning—a type of artificial intelligence—to analyze the complex data that are being gathered. This can help detect patterns and predict disease outcomes, which may lead to more personalized and effective care strategies in the future.
Finally, the registry follows strict international ethical standards. All patients (or their guardians) must give informed consent before joining, and all personal data is pseudonymized to ensure privacy. Data is protected under European data protection laws (GDPR).
In short, the NAXCARE registry is an international effort to bring together scattered information about a poorly understood and very rare group of diseases. By combining data from around the world, researchers hope to facilitate research into disease, improve diagnosis and therapy, therby giving patients with Naxos disease and related diseases a better chance at a healthy life.
Tsatsopoulou A, Abrahms DJ, Anastasakis A, Antoniades L, Arbello E, Arbustini E, Ashley EA, Asimaki A, Basso C, Bossone E, Cadrin-Turigny J, Calkins H, Carbone A, Elliott PM, Efthimiadis G, Franzese M, Frogoudaki A, Gimeno JR, McGrath J, Ingles J, Kaski JP, Keren A, Kohiadakis G, Lazarou E, Lazaros G, Lerakis S, Limongelli G, Meditskou S, Mestroni L, Metaxa I, Monda E, Papatheodorou E, Parharidou D, Patrianakos A, Pilichou K, Protonotarios A, Protonotarios I, Rega S, Rigopoulos A, Saffitz J, Syrris P, Taylor M, Tintelen JPV, Vlachopoulos C, Xylouri Z, McKenna WJ. NAXCARE: A Clinical Outcome Registry for Naxos Disease and Related Cardio-cutaneous Syndromes. Hellenic J Cardiol. 2025 Apr 30:S1109-9666(25)00102-2. doi: 10.1016/j.hjc.2025.04.004. Epub ahead of print. PMID: 40316016.
Prepared by Adalena Tsatsopoulou and Ruth Biller