Understanding retinal blood vessel changes in Fabry disease
Characterizing the Retinal Microvasculature in Patients with Fabry Disease: a Prospective Observational Study
This study is trying to see how changes in the tiny blood vessels in the eyes of people with Fabry disease can help predict heart problems and track how well treatments are working.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 63 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Technical University of Munich Academic / other |
| Locations | 1 site (München, Bavaria) |
| Trial ID | NCT06758648 on ClinicalTrials.gov |
What this trial studies
This observational study aims to explore endothelial dysfunction in patients with Fabry disease by analyzing the retinal microvasculature. It will assess both dynamic and static parameters of retinal vessels to determine how they differ from healthy individuals and whether they can predict cardiovascular events related to Fabry disease. The study will utilize non-invasive techniques such as dynamic retinal vessel analysis, optical coherence tomography, and patient-reported outcomes to gather comprehensive data on disease severity and cardiovascular risk. The findings may help in monitoring the effectiveness of enzyme replacement therapy and improving patient outcomes.
Who should consider this trial
Good fit: Ideal candidates for this study are adults over 18 years old diagnosed with Fabry disease through genetic testing or specific enzyme activity.
Not a fit: Patients with active infections, cancer, or other specified exclusions such as glaucoma or epilepsy may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide a non-invasive method to assess disease severity and cardiovascular risk in patients with Fabry disease.
How similar studies have performed: While there have been studies on biomarkers in Fabry disease, this specific approach focusing on retinal microvasculature is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Age \> 18 years * Diagnosis of Fabry disease by genetic testing or GB3 activity in leukocytes. * Signed informed consent form Exclusion Criteria: * Active infection or cancer * Surgery less than 2 weeks prior to inclusion in the study * Known glaucoma * Lack of capacity to give consent; lack of informed consent. * Known epilepsy
Where this trial is running
München, Bavaria
- Department of nephrology, Klinikum rechts der Isar — München, Bavaria, Germany (Recruiting)
Study contacts
- Principal investigator: Roman Günthner, PD Dr. — Abteilung für Nephrologie
- Study coordinator: Christoph Schmaderer, Prof. Dr.
- Email: christoph.schmaderer@mri.tum.de
- Phone: 089 4140 5053
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.