A validated disease severity scoring system for Fabry disease.
Edward H Giannini, Atul B Mehta, Max J Hilz...
https://pubmed.ncbi.nlm.nih.gov/19951842Actively Recruiting
Age: 18Years +
All Genders
ID06758648
Characterizing the Retinal Microvasculature in Patients with Fabry Disease: a Prospective Observational Study
Led by Technical University of Munich · Updated on 2025-01-06
63
Participants Needed
1
Research Sites
217 weeks
Total Duration
On this page
Sponsors
T
Technical University of Munich
Lead Sponsor
T
Takeda
Collaborating Sponsor
AI-Summary
What this Trial Is About
This research aims to better understand endothelial dysfunction in patients with Fabry disease by studying the retinal microvasculature. Fabry disease is a rare genetic disorder that causes harmful buildup of certain substances in cells, leading to damage in the heart, brain, and kidneys. This damage increases cardiovascular risk, and researchers want to find non-invasive markers to assess disease severity and predict related health events during follow-up. Participants will undergo various non-invasive tests including dynamic and static retinal vessel analyses to measure retinal blood vessel responses and structures. Blood samples will be collected for biochemical and immune studies, and imaging tests such as cardio MRI, optical coherence tomography, and echocardiography will be performed. Additionally, questionnaires will assess quality of life, pain, and gastrointestinal symptoms. Measurements will be taken at enrollment and repeated annually for up to four years. Throughout the study, participants will have yearly assessments of retinal vessel diameters and vessel function along with monitoring for any cardiovascular or Fabry-related events. Researchers will also examine correlations between retinal markers and clinical symptoms, genetic factors, and cardiac damage. The study includes safety monitoring and aims to provide better tools to track Fabry disease progression and cardiovascular risk over time.
CONDITIONS
Brief Title
Characterizing the Retinal Microvasculature in Patients with Fabry Disease: a Prospective Observational Study
Who Can Participate
Age: 18Years +
All Genders
Eligibility Criteria
You may qualify if you...
- Age > 18 years
- Diagnosis of Fabry disease by genetic testing or GB3 activity in leukocytes
- Signed informed consent form
You will not qualify if you...
- 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
AI-Screening
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1
2
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Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - Baseline assessments at enrollment
Participants undergo a series of non-invasive diagnostic tests to evaluate retinal microvasculature, cardiac structure and function, and other clinical and laboratory parameters relevant to Fabry disease. These include dynamic and static retinal vessel analysis, cardio MRI, echocardiography, 24-hour pulse wave and blood pressure measurements, 1 hour ECG, optical coherence tomography, ophthalmological consultation, blood sample collection for biochemistry and immune phenotyping, and patient-reported outcome questionnaires.
1 baseline visit (in-person)
Long-term Monitoring
Duration - Up to 4 years
Participants are observed with annual assessments to monitor changes in retinal vessel parameters and other clinical outcomes related to Fabry disease over an estimated period of up to 4 years.
Annual visits for up to 5 years including enrollment plus 4 yearly follow-ups
Trial Site Locations
Total: 1 location
1
Department of nephrology, Klinikum rechts der Isar
München, Bavaria, Germany, 81675
Actively Recruiting
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Research Team
C
Christoph Schmaderer, Prof. Dr.
C
Claudia Regenbogen
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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Published Research Related To This Trial
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.
Derralynn A Hughes, Daniel G Bichet, Roberto Giugliani...
https://pubmed.ncbi.nlm.nih.gov/36543533Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation.
Timon Wallraven, Claudia Regenbogen, Roman Günthner...
https://pubmed.ncbi.nlm.nih.gov/41545379