Autoimmune and Inflammatory Response Biomarkers in Fabry Disease (Bio-FAIR)

August 18, 2023 updated by: Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal

The goal of this observational study is to understand the immune response in Fabry disease (FD). We want to find out how the immune response is related to the severity of FD and how it affects patients' quality of life and pain.

Main Questions the Study Aims to Answer:

  • How are immune response markers linked to the health of FD patients?
  • How is the immune response different between FD patients and healthy individuals?

Participants:

We will include 20 patients who have FD and are older than 18, and do not have other autoimmune or autoinflammatory diseases. We'll also include a comparison group of the same size who don't have FD, but are similar in age and sex to the FD group.

Participants with Fabry disease will be asked about their medical history and complete questionnaires. We will measure their vital signs and collect blood samples to study immune response markers. We'll also look at specific biomarkers related to FD.

Healthy participants will do similar tasks for comparison.

Comparison: Researchers will compare the immune response markers and other measurements between FD patients and healthy individuals to understand the differences and similarities.

Duration: The study will take place over 18 months to gather comprehensive information.

Study Overview

Status

Recruiting

Conditions

Detailed Description

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:

  1. 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).
  2. To characterize the immune response profile by circulating biomarkers of subjects with Fabry disease (FD) compared to healthy subjects.
  3. To compare circulating biomarker values with those measured in PBMC (Peripheral Blood Mononuclear Cells) culture supernatant from patients with FD.
  4. To evaluate the relationship between biomarkers of the immune response and the concentration of specific Fabry disease markers (Lyso-Gb3).
  5. 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

Study Type

Observational

Enrollment (Estimated)

40

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Population of consecutive patients with Fabry Disease (FD) under follow-up in the Internal Medicine Department of the Hospital Universitario Ramon y Cajal.

In addition, a Control group of subjects without Fabry disease will be included, among those who come to donate blood at the Hospital Universitario Ramón y Cajal.

Controls will be matched for age (± 5 years) and sex with FD patients.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Fabry Disease
Patients with Fabry disease, older than 18 years, and without autoimmune or autoinflammatory diseases.
Control
Subjects without Fabry disease or autoimmune/autoinflammatory diseases, matched for age (± 5 years) and sex.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
High-sensitivity C-reactive protein (hsCRP)
Time Frame: Day 1 (one cross-sectional examination only)
High-sensitivity C-reactive protein (hsCRP), measured in mg/L.
Day 1 (one cross-sectional examination only)
Tumor necrosis factor (TNF)
Time Frame: Day 1 (one cross-sectional examination only)
Tumor necrosis factor (TNF), measured in pg/mL.
Day 1 (one cross-sectional examination only)
Interleukin 6 (IL-6)
Time Frame: Day 1 (one cross-sectional examination only)
Interleukin 6 (IL-6), measured in pg/mL.
Day 1 (one cross-sectional examination only)
Interferon gamma (IFN-γ)
Time Frame: Day 1 (one cross-sectional examination only)
Interferon gamma (IFN-γ), measured in pg/mL.
Day 1 (one cross-sectional examination only)
Vascular cell adhesion protein 1 (VCAM-1)
Time Frame: Day 1 (one cross-sectional examination only)
Vascular cell adhesion protein 1 (VCAM-1), measured in ng/mL.
Day 1 (one cross-sectional examination only)

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Globotriaosylsphingosine (Lyso-Gb3)
Time Frame: Day 1 (one cross-sectional examination only)
The globotriaosylsphingosine (Lyso-Gb3), the deacylated derivative of Gb3, measured in plasma (ng/mL).
Day 1 (one cross-sectional examination only)
Brain natriuretic peptide (BNP)
Time Frame: Day 1 (one cross-sectional examination only)
Brain natriuretic peptide (BNP), measured in pg/mL.
Day 1 (one cross-sectional examination only)
N-terminal prohormone of brain natriuretic peptide (NT-proBNP)
Time Frame: Day 1 (one cross-sectional examination only)
N-terminal prohormone of brain natriuretic peptide (NT-proBNP), measured in pg/mL.
Day 1 (one cross-sectional examination only)
Cystatin C
Time Frame: Day 1 (one cross-sectional examination only)
Cystatin C, measured in mg/dL.
Day 1 (one cross-sectional examination only)
EuroQol Health-Related Quality of Life (EQ-5D-5L)
Time Frame: Day 1 (one cross-sectional examination only)

EQ-5D-5L is a standardised measure of health-related quality of life. The EQ-5D-5L essentially consists of a descriptive system that comprises five dimensions: mobility, self-care, usual activities, pain and discomfort, and anxiety and depression, and five levels in these dimensions, and EQ-5D visual analogue scale (EQ VAS).

A numerical value will be derived for each EQ-5D-5L health state (ranges from 1 representing full health to 0 representing dead) to reflect how good or bad a health state is according to the preferences of the general population in Spain.

EQ VAS ranges from 0 (the worst health you can imagine) to 100 (the best health you can imagine).
Day 1 (one cross-sectional examination only)
11-point numerical rating scale (NRS-11) score of neuropathic pain
Time Frame: Day 1 (one cross-sectional examination only)
The Numeric Pain Rating Scale is a unidimensional measure of pain intensity in adults. The 11-point numerical rating scale (NRS-11) scores neuropathic pain ranging from '0' representing "no pain" to '10' representing "pain as bad as you can imagine".
Day 1 (one cross-sectional examination only)
Mainz Severity Score Index (MSSI)
Time Frame: Day 1 (one cross-sectional examination only)

The Mainz Severity Score Index (MSSI) is an instrument for quantifying the overall severity of the signs and symptoms of Fabry disease. The MSSI assigns scores based on the presence and severity of signs and symptoms in four areas: general, neurologic, cardiovascular, and renal. Each of the signs and symptoms is weighted in accordance with its relationship to morbidity.

MSSI scoring ranges from 0 (healthy) to 76 (maximum severity), and it is divided into severity bands of mild (<20), moderate (20-40), and severe (>40) affliction.
Day 1 (one cross-sectional examination only)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal

Collaborators

Fundación Mutua Madrileña

Investigators

  • Principal Investigator: Monica A Lopez Rodriguez, MD PhD, Hospital Universitario Ramon y Cajal

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 20, 2022

Primary Completion (Estimated)

September 30, 2023

Study Completion (Estimated)

December 31, 2023

Study Registration Dates

First Submitted

August 11, 2023

First Submitted That Met QC Criteria

August 18, 2023

First Posted (Actual)

August 23, 2023

Study Record Updates

Last Update Posted (Actual)

August 23, 2023

Last Update Submitted That Met QC Criteria

August 18, 2023

Last Verified

August 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 284/21

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

Deidentified data will be made available for sharing upon reasonable request at the discretion of the Principal Investigator.

IPD Sharing Time Frame

Data will be made available one year after publication of the main results, during 5 years.

IPD Sharing Access Criteria

Data will be available for sharing with investigators seeking to verify analyses or to conduct additional analyses that are appropriate to the nature of these data. Data will be made available for sharing upon request.

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • ICF

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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