Autoimmune and Inflammatory Response Biomarkers in Fabry Disease

Rationale: The immune response could play a relevant role in the pathophysiological mechanisms of Fabry disease (FD), although the relationship between the activated immune pathways and the clinical expression of the disease needs to be clarified. Knowledge of the immune response in FD could help to better understand the progression of the disease, identifying new biomarkers potentially useful in the clinical follow-up of these patients.

Study design: Observational cross-sectional study with a control group. Study subjects: Target group: patients with Fabry disease, older than 18 years and without autoimmune or autoinflammatory diseases. Control group: subjects without Fabry disease matched for age (± 5 years) and sex.

Sample size: n=40 (20 patients with Fabry disease + 20 controls).

Objectives:

• To study the relationship between immune response biomarkers and the clinical status of the patient, as measured by the MSSI scale (Mainz Severity Score Index) or by markers of target organ damage (clinical, biochemical and imaging parameters).
• To characterize the immune response profile by circulating biomarkers of subjects with Fabry disease (FD) compared to healthy subjects.
• To compare circulating biomarker values with those measured in PBMC (Peripheral Blood Mononuclear Cells) culture supernatant from patients with FD.
• To evaluate the relationship between biomarkers of the immune response and the concentration of specific Fabry disease markers (Lyso-Gb3).
• To evaluate the association between immune response biomarkers and quality of life and neuropathic pain in FD patients.

Variables: Demographics, vital signs, anthropometric data, FD medical history, questionnaires, clinical biochemical variables, biochemical markers of autoimmunity, specific markers of FD (Lyso-Gb3), immune response markers and markers of target organ damage.

Duration: 18 months

For the Fabry Disease (FD) group:

Inclusion criteria

• Age ≥ 18 years.
• Diagnosis of Fabry disease (enzymatic or genetic).
• Having signed the informed consent, after having received all the information concerning the study.

Exclusion criteria

• Autoimmune or autoinflammatory disease or patients with transplanted organs (corneal transplant excluded) and under additional immunosuppressive treatment.
• Acute cardiovascular event or major surgery in the 90 days prior to inclusion in the study.
• Serious intercurrent diseases such as HIV, COVID-19, cancer under active treatment, severe anemia, severe hepatic, respiratory or renal failure, or other pathologies that, at the investigator's discretion, could interfere with the objectives of the study.

For the Control group:

• Participants must not meet any of the exclusion criteria applied to the target (FD) population and must sign, prior to inclusion, the informed consent form after having received all the information concerning the study.