Functional Capacity in Anderson-Fabry Disease Patients

Launched by IRCCS POLICLINICO S. DONATO · Mar 17, 2025

Keywords

ClinConnect Summary

This clinical trial is studying Anderson-Fabry Disease, a genetic condition that can affect how well the heart and other organs work. The main goal of the study is to understand how exercise affects heart function and overall health in patients with this disease. Researchers will use various tests, including exercise tests and heart imaging, to gather information about how these patients respond to physical activity and how their hearts perform under stress.

To participate, individuals must have a confirmed genetic diagnosis of Anderson-Fabry Disease and be able to provide informed consent. This means they understand what the study involves and can agree to be part of it. Patients will go through several evaluations, including assessments of their quality of life, heart function, and exercise capacity, both at the start of the study and again within the next three years. The study is open to all genders and will continue to follow participants for up to seven years. It’s important to know that some people may not be eligible if they have certain health issues or if they are pregnant or breastfeeding.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Patients with a genetic diagnosis of AFD, according to current guidelines;
• • Informed written consent with the understanding that consent may be withdrawn by the patient at any time without prejudice to future medical care (for patients age \<18 years old, written consent from a caregiver is mandatory).
• Exclusion Criteria:
• • eGFR \<30 ml/min and other contraindications for CMR (relative controindication: patients with implantable device);
• • Musculoskeletal limitation for exercise test on the cyclo ergometer;
• • Pregnant or breastfeeding women;
• • Any serious medical or psychiatric illness that could, in the investigator's opinion, potentially interfere with a full comprehension of the written consent form.