ClinicalTrials.gov record NCT06758648
Characterizing the Retinal Microvasculature in Patients with Fabry Disease: a Prospective Observational Study
Characterizing the Retinal Microvasculature in Patients with Fabry Disease: a Prospective Observational Study
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This prospective observational case-control study enrolls adults with Fabry disease and compares them with age- and sex-matched healthy controls. Participants undergo non-invasive retinal imaging (dynamic and static vessel analysis, OCT/OCT-A), blood tests, cardiac imaging and monitoring, and questionnaires. Retinal and other markers are measured at enrollment and then annually for up to four years to test relationships with disease severity and cardiovascular or Fabry-related events.
What it is studying. Whether non-invasive retinal microcirculation measurements (static and dynamic retinal vessel analysis, OCT/OCT-A) differ from healthy controls, whether those measurements correlate with established clinical and laboratory measures (for example LysoGb3 levels, DS3 disease severity score, cardiac imaging and endothelial/inflammatory markers), and whether retinal measures predict Fabry-related or cardiovascular events during follow-up.
What the researchers hope to learn. Scientific goals: validate non-invasive retinal microcirculation markers and compare them with established clinical, laboratory (including LysoGb3), cardiac and genetic measures. Assess whether retinal measurements correlate with disease severity and can predict Fabry-related or cardiovascular events.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
This study aims to gain a deeper understanding of endothelial dysfunction in patients with Fabry disease through a prospective study of the retinal microvasculature and to identify an objective, non-invasive marker to assess disease severity and cardiovascular risk in patients. The main questions addressed are: Do dynamic and static retinal vessel analysis parameters differ from those in healthy individuals? Can these parameters predict cardiovascular and/or Fabry-related events during follow-up? Do these parameters change during follow-up in patients with a non-stable disease?
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Diagnostic test
- Dynamic retinal vessel analysis (DVA)
- Biochemistry and immune phenotyping
- Questionnaires (Patient reported outcomes)
- Cardio MRI
- Optical coherence tomography (OCT)
- Echocardiography
- 24 hour pulse wave analysis
- 24-hour blood pressure measurement
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Show the detailed description from the registry
Fabry disease is a rare genetic disorder characterized by the pathological accumulation of glycosphingolipids, specifically globotriaosylceramide (Gb3), within lysosomes in various cells of the body. This accumulation leads to damage in the cardiovascular, cerebrovascular, and renal systems and is characterized by dysfunction of endothelial cells. This dysfunction results in disturbances in the microcirculation and damage to the supplied systems, leading to a significantly increased cardiovascular risk in patients with Fabry disease. Studies have shown that these patients have a higher risk of premature death due to these risk factors compared to the general population. Early diagnosis and adequate monitoring of enzyme replacement therapy (ERT) are crucial in reducing the risk of cardiovascular events associated with Fabry disease. Currently, LysoGb3 (lysosphingolipid globotriaosylceramide) is considered a biomarker for the diagnosis and monitoring of Fabry disease. Elevated levels of LysoGb3 have been observed in the blood of patients with Fabry disease, and its measurement has been proposed as a diagnostic tool. Additionally, measuring LysoGb3 levels before and after treatment with ERT can be used as a tool to monitor the effectiveness of the therapy in reducing the accumulation of glycosphingolipids in cells and improving symptoms and outcomes in patients with Fabry disease. However, the performance of LysoGb3 as a predictor of cardiovascular events in patients with Fabry disease is not well understood, and more research is needed to confirm its utility in this regard. Therefore, there is a need for additional reliable measurements of the microcirculation that can be performed non-invasively and represent a low burden for participants. The use of non-invasive markers of microcirculation can aid in the early diagnosis and monitoring of Fabry disease, which is crucial for the effective use of ERT. In summary, this study aims to validate new microcirculation markers that can be measured non-invasively in a prospective cohort of patients with Fabry disease and to correlate these markers with established clinical and laboratory parameters. By validating these markers, the study seeks to improve the management of Fabry disease, reduce the burden on participants, and ultimately reduce the incidence of cardiovascular events associated with the disease.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Participants will have eye tests including dynamic retinal vessel analysis (measuring vessel responses to brief flicker light) and static retinal imaging (OCT and OCT-A). They will give blood samples for clinical chemistry and immune-cell analyses, complete questionnaires about quality of life, pain and gastrointestinal symptoms, and undergo heart tests (cardio MRI, echocardiography, 24-hour blood pressure and pulse-wave monitoring, and a one-hour ECG) plus an eye clinic consultation. Most procedures are non-invasive imaging or monitoring; blood draws and the brief flicker-light eye test may cause minor discomfort. Measurements are taken at enrollment and then yearly, with follow-up planned for up to about four years.
How the study is structured. A prospective observational case-control study. Adults with Fabry disease have diagnostic tests only (retinal vessel analysis, OCT/OCT-A, blood sampling for biochemistry and immune phenotyping, cardio MRI, echocardiography, 24-hour blood pressure and pulse-wave analysis, a 1-hour ECG) and complete questionnaires. Results are compared with matched healthy controls and key tests are repeated annually for up to four years. No experimental treatments are given.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in Germany. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Fabry disease
Important dates
- Study start
- Jun 25, 2020
- Primary completion
- Sep 1, 2021
- Study completion
- Nov 1, 2025 (estimated)
- Target enrollment
- 63 participants (estimated)
- Last updated on registry
- Jan 6, 2025
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Technical University of Munich
- Principal investigator
- PD Dr. Christoph Schmaderer, Principal Investigator
Technical University of Munich - Collaborators
- Takeda
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Christoph Schmaderer, Prof. Dr. 📞 089 4140 5053 ✉ christoph.schmaderer@mri.tum.de
- Claudia Regenbogen 📞 0894140 5644 ✉ claudia.regenbogen@mri.tum.de
Participating sites (1)
- Department of nephrology, Klinikum rechts der IsarRecruiting
München, Bavaria, 81675 · Germany
- Christoph Schmaderer, PD.Dr. · 0049-89-4140 ext. 5231 · christoph.schmaderer@mri.tum.de
- Claudia Regenbogen, M.D. · 0049-89-4140 ext. 5231 · claudia.regenbogen@mri.tum.de
- Christoph Schmaderer, Prof.Dr.
- Matthias Braunisch, PD. Dr.
- Roman Günthner, Dr.
- Timon Kuchler, Dr
Terms used on this page · explanations by MedicalUpdates.ai
- follow-up
- The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
- informed consent form
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- biomarker
- Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
- prospective cohort
- A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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