Fabry DiseaseBio-FAIRNCT06007768
Autoimmune and Inflammatory Response Biomarkers in Fabry Disease
An observational study of Fabry Disease, run by Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal at 1 site in Spain.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Fabry Disease
- How many people
- 32 participants
- Where
- 1 siteSpain
- Study dates
- 20 Sep 2022to 27 Apr 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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.
Who may be able to join
- Age ≥ 18 years.
- Diagnosis of Fabry disease (enzymatic or genetic).
- Having signed the informed consent, after having received all the information concerning the study.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
About this study
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:
Read more
- 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.
Read the 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:
- 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
- Conditions
- Fabry Disease
- Keywords
- Fabry Disease, Immune response, Biomarkers, Quality of life, Inflammation
- Medical subject headings
- Fabry Disease, Inflammation
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
High-sensitivity C-reactive protein (hsCRP)
High-sensitivity C-reactive protein (hsCRP), measured in mg/L.
Measured: Day 1 (one cross-sectional examination only)
Tumor necrosis factor (TNF)
Tumor necrosis factor (TNF), measured in pg/mL.
Measured: Day 1 (one cross-sectional examination only)
Interleukin 6 (IL-6)
Interleukin 6 (IL-6), measured in pg/mL.
Measured: Day 1 (one cross-sectional examination only)
Interferon gamma (IFN-γ)
Interferon gamma (IFN-γ), measured in pg/mL.
Measured: Day 1 (one cross-sectional examination only)
Vascular cell adhesion protein 1 (VCAM-1)
Vascular cell adhesion protein 1 (VCAM-1), measured in ng/mL.
Measured: Day 1 (one cross-sectional examination only)
Secondary outcomes (7)
Globotriaosylsphingosine (Lyso-Gb3)
The globotriaosylsphingosine (Lyso-Gb3), the deacylated derivative of Gb3, measured in plasma (ng/mL).
Measured: Day 1 (one cross-sectional examination only)
Brain natriuretic peptide (BNP)
Brain natriuretic peptide (BNP), measured in pg/mL.
Measured: Day 1 (one cross-sectional examination only)
N-terminal prohormone of brain natriuretic peptide (NT-proBNP)
N-terminal prohormone of brain natriuretic peptide (NT-proBNP), measured in pg/mL.
Measured: Day 1 (one cross-sectional examination only)
Cystatin C
Cystatin C, measured in mg/dL.
Measured: Day 1 (one cross-sectional examination only)
EuroQol Health-Related Quality of Life (EQ-5D-5L)
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).
Measured: Day 1 (one cross-sectional examination only)
11-point numerical rating scale (NRS-11) score of neuropathic pain
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".
Measured: Day 1 (one cross-sectional examination only)
Mainz Severity Score Index (MSSI)
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.
Measured: Day 1 (one cross-sectional examination only)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Aug 2023
- Study start20 Sep 2022
- Primary completion27 Apr 2023
- Study completion27 Apr 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (11)Papers the sponsor has linked to this study.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 32 participants (actual)
Sponsor and investigators
- Lead sponsor
- Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal
- Sponsor type
- University, hospital or other
- Collaborators
- Fundación Mutua Madrileña
- Responsible party
- Sponsor
- Investigators
- Monica A Lopez Rodriguez, MD PhD, Principal investigator, Hospital Universitario Ramon y Cajal
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06007768
- Sponsor's protocol ID
- 284/21
- Acronym
- Bio-FAIR
- Status last verified
- Mar 2025
- First submitted
- 11 Aug 2023
- Last updated
- 17 Mar 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Deidentified data will be made available for sharing upon reasonable request at the discretion of the Principal Investigator.
Publications
Rozenfeld P, Feriozzi S. Contribution of inflammatory pathways to Fabry disease pathogenesis. Mol Genet Metab. 2017 Nov;122(3):19-27. doi: 10.1016/j.ymgme.2017.09.004. Epub 2017 Sep 13.
PubMed 28947349De Francesco PN, Mucci JM, Ceci R, Fossati CA, Rozenfeld PA. Fabry disease peripheral blood immune cells release inflammatory cytokines: role of globotriaosylceramide. Mol Genet Metab. 2013 May;109(1):93-9. doi: 10.1016/j.ymgme.2013.02.003. Epub 2013 Feb 13.
PubMed 23452955Mauhin W, Lidove O, Masat E, Mingozzi F, Mariampillai K, Ziza JM, Benveniste O. Innate and Adaptive Immune Response in Fabry Disease. JIMD Rep. 2015;22:1-10. doi: 10.1007/8904_2014_371. Epub 2015 Feb 18.
PubMed 25690728Ge W, Li D, Gao Y, Cao X. The Roles of Lysosomes in Inflammation and Autoimmune Diseases. Int Rev Immunol. 2015;34(5):415-31. doi: 10.3109/08830185.2014.936587. Epub 2014 Jul 30.
PubMed 25075736Simonetta I, Tuttolomondo A, Daidone M, Pinto A. Biomarkers in Anderson-Fabry Disease. Int J Mol Sci. 2020 Oct 29;21(21):8080. doi: 10.3390/ijms21218080.
PubMed 33138098Loso J, Lund N, Avanesov M, Muschol N, Lezius S, Cordts K, Schwedhelm E, Patten M. Serum Biomarkers of Endothelial Dysfunction in Fabry Associated Cardiomyopathy. Front Cardiovasc Med. 2018 Aug 15;5:108. doi: 10.3389/fcvm.2018.00108. eCollection 2018.
PubMed 30159316Shen JS, Meng XL, Moore DF, Quirk JM, Shayman JA, Schiffmann R, Kaneski CR. Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab. 2008 Nov;95(3):163-8. doi: 10.1016/j.ymgme.2008.06.016. Epub 2008 Aug 15.
PubMed 18707907Weidemann F, Beer M, Kralewski M, Siwy J, Kampmann C. Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study. Mol Genet Metab. 2019 Feb;126(2):169-182. doi: 10.1016/j.ymgme.2018.11.005. Epub 2018 Nov 12.
PubMed 30594474Chimenti C, Scopelliti F, Vulpis E, Tafani M, Villanova L, Verardo R, De Paulis R, Russo MA, Frustaci A. Increased oxidative stress contributes to cardiomyocyte dysfunction and death in patients with Fabry disease cardiomyopathy. Hum Pathol. 2015 Nov;46(11):1760-8. doi: 10.1016/j.humpath.2015.07.017. Epub 2015 Aug 4.
PubMed 26362204Yogasundaram H, Nikhanj A, Putko BN, Boutin M, Jain-Ghai S, Khan A, Auray-Blais C, West ML, Oudit GY. Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction. J Am Heart Assoc. 2018 Nov 6;7(21):e009098. doi: 10.1161/JAHA.118.009098.
PubMed 30571380Chen KH, Chien Y, Wang KL, Leu HB, Hsiao CY, Lai YH, Wang CY, Chang YL, Lin SJ, Niu DM, Chiou SH, Yu WC. Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy. Can J Cardiol. 2016 Oct;32(10):1221.e1-1221.e9. doi: 10.1016/j.cjca.2015.10.033. Epub 2015 Nov 10.
PubMed 26919792
Study at a glance
From the registry record, last updated by the sponsor on 17 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Autoimmune and Inflammatory Response Biomarkers in Fabry Disease
- ClinicalTrials.gov ID
- NCT06007768
- Acronym / sponsor ID
- Bio-FAIR / 284/21
- Conditions
- Fabry Disease
- Keywords
- Fabry Disease, Immune response, Biomarkers, Quality of life, Inflammation
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 32 participants (actual)
- Lead sponsor
- Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y CajalUniversity, hospital or other
- Collaborators
- Fundación Mutua Madrileña
- Study start
- 20 Sep 2022 (actual)
- Primary completion
- 27 Apr 2023 (actual)
- Study completion
- 27 Apr 2023 (actual)
- First posted
- 23 Aug 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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:
- 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
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- Age ≥ 18 years.
- Diagnosis of Fabry disease (enzymatic or genetic).
- Having signed the informed consent, after having received all the information concerning the study.
Key exclusion criteria (5 listed)
- 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.
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Tumor necrosis factor (TNF)
Time frame: Day 1 (one cross-sectional examination only)
Tumor necrosis factor (TNF), measured in pg/mL.
Interleukin 6 (IL-6)
Time frame: Day 1 (one cross-sectional examination only)
Interleukin 6 (IL-6), measured in pg/mL.
Interferon gamma (IFN-γ)
Time frame: Day 1 (one cross-sectional examination only)
Interferon gamma (IFN-γ), measured in pg/mL.
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.
7 secondary outcomes
Globotriaosylsphingosine (Lyso-Gb3)
Time frame: Day 1 (one cross-sectional examination only)
Brain natriuretic peptide (BNP)
Time frame: 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)
Cystatin C
Time frame: 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)
11-point numerical rating scale (NRS-11) score of neuropathic pain
Time frame: Day 1 (one cross-sectional examination only)
Mainz Severity Score Index (MSSI)
Time frame: Day 1 (one cross-sectional examination only)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Mar 2025.
- Background: PubMed 28947349Rozenfeld P, Feriozzi S. Contribution of inflammatory pathways to Fabry disease pathogenesis. Mol Genet Metab. 2017 Nov;122(3):19-27. doi: 10.1016/j.ymgme.2017.09.004. Epub 2017 Sep 13.
- Background: PubMed 23452955De Francesco PN, Mucci JM, Ceci R, Fossati CA, Rozenfeld PA. Fabry disease peripheral blood immune cells release inflammatory cytokines: role of globotriaosylceramide. Mol Genet Metab. 2013 May;109(1):93-9. doi: 10.1016/j.ymgme.2013.02.003. Epub 2013 Feb 13.
- Background: PubMed 25690728Mauhin W, Lidove O, Masat E, Mingozzi F, Mariampillai K, Ziza JM, Benveniste O. Innate and Adaptive Immune Response in Fabry Disease. JIMD Rep. 2015;22:1-10. doi: 10.1007/8904_2014_371. Epub 2015 Feb 18.
- Background: PubMed 25075736Ge W, Li D, Gao Y, Cao X. The Roles of Lysosomes in Inflammation and Autoimmune Diseases. Int Rev Immunol. 2015;34(5):415-31. doi: 10.3109/08830185.2014.936587. Epub 2014 Jul 30.
- Background: PubMed 33138098Simonetta I, Tuttolomondo A, Daidone M, Pinto A. Biomarkers in Anderson-Fabry Disease. Int J Mol Sci. 2020 Oct 29;21(21):8080. doi: 10.3390/ijms21218080.
- Background: PubMed 30159316Loso J, Lund N, Avanesov M, Muschol N, Lezius S, Cordts K, Schwedhelm E, Patten M. Serum Biomarkers of Endothelial Dysfunction in Fabry Associated Cardiomyopathy. Front Cardiovasc Med. 2018 Aug 15;5:108. doi: 10.3389/fcvm.2018.00108. eCollection 2018.
- Background: PubMed 18707907Shen JS, Meng XL, Moore DF, Quirk JM, Shayman JA, Schiffmann R, Kaneski CR. Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab. 2008 Nov;95(3):163-8. doi: 10.1016/j.ymgme.2008.06.016. Epub 2008 Aug 15.
- Background: PubMed 30594474Weidemann F, Beer M, Kralewski M, Siwy J, Kampmann C. Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study. Mol Genet Metab. 2019 Feb;126(2):169-182. doi: 10.1016/j.ymgme.2018.11.005. Epub 2018 Nov 12.
- Background: PubMed 26362204Chimenti C, Scopelliti F, Vulpis E, Tafani M, Villanova L, Verardo R, De Paulis R, Russo MA, Frustaci A. Increased oxidative stress contributes to cardiomyocyte dysfunction and death in patients with Fabry disease cardiomyopathy. Hum Pathol. 2015 Nov;46(11):1760-8. doi: 10.1016/j.humpath.2015.07.017. Epub 2015 Aug 4.
- Background: PubMed 30571380Yogasundaram H, Nikhanj A, Putko BN, Boutin M, Jain-Ghai S, Khan A, Auray-Blais C, West ML, Oudit GY. Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction. J Am Heart Assoc. 2018 Nov 6;7(21):e009098. doi: 10.1161/JAHA.118.009098.
- Background: PubMed 26919792Chen KH, Chien Y, Wang KL, Leu HB, Hsiao CY, Lai YH, Wang CY, Chang YL, Lin SJ, Niu DM, Chiou SH, Yu WC. Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy. Can J Cardiol. 2016 Oct;32(10):1221.e1-1221.e9. doi: 10.1016/j.cjca.2015.10.033. Epub 2015 Nov 10.
- Individual participant dataSharing planned: Yes. Deidentified data will be made available for sharing upon reasonable request at the discretion of the Principal Investigator.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Monica A Lopez Rodriguez, MD PhD principal investigator
Hospital Universitario Ramon y Cajal
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal at 1 site in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 17 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
High-sensitivity C-reactive protein (hsCRP) (time frame: Day 1 (one cross-sectional examination only)). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06007768, which also lists 11 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Mar 2025.