Fabry's DiseaseNCT04847713
Early Detection and Follow-Up of Patients With Fabry's Disease
An observational study of Fabry's Disease, run by Hospital Clinico Universitario de Santiago at 1 site in Spain.
Trial summary
This research project will serve on the enhancement of early detection, diagnosis and follow-up of patients with Fabry Disease, through new biomarkers identification. This could have straight clinical impact on: 1. Early diagnosis, follow-up, and prediction of treatment response. 2. Read more about this study
- Who is it for?
- Ages 6 to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- Fabry's Disease
- What is being tested?
- extraction of blood samples
- How many people
- 100 participants
- Where
- 1 siteSpain
- Study dates
- 1 Jan 2021to Dec 2022
- 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 6 to 70 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Study Population The study will obtain biological samples (one sample of blood plasma per participant) from patients with diagnosis of FD, treated and non-treated, recruited through the Association of Lysosomal Patients-MPS Spain and Portugal and clinicians from Expert Centres in Spain and Portugal in this disorder. An age and sex-matched group of healthy subjects will serve as controls. Controls will be identified from volunteers and nonmedical staff at the Clinical Hospital University of Santiago. Controls will be required to have a negative family history for lysosomal storage disorders and no clinical signs of FD. The same procedures will be done both control and FD patients.
Who may be able to join
- Age and gender: children and adults male or female between 6 and 70 years old.
- Patients or legal representative will be able to give written informed consent. Parent(s) or guardian(s), for subject under 18 years of age, must be willing and able to provide written, signed informed consent after the nature of the study has been explained and prior to performance of any research-related procedure.
- Patients with diagnosis biochemically confirmed by a decrease in the enzymatic activity of alpha-galactosidase or genetically by the presence of a pathogenic variant in GLA
- Controls: male or female subjects between 6 and 70 years old must be unaffected with Fabry Disease, and considered healthy with no previous history of diabetes mellitus, atherosclerotic vasculopathy or other inflammatory disease.
Who cannot join
- Subject with inconclusive genetic diagnosis (i.e. carriers of variants of unknown significance (VUS) or variants with conflicting interpretations of pathogenicity).
- Subject with any medical or psychological disorder that, in the investigator's opinion, may interfere with the patient's ability to give his/her informed consent.
- Subject or legal representative unable to or unwilling to give informed consent.
- Subject participating in a study with an investigational drug within 3 months before consent.
Trial locations and contacts
1 site in 1 country.
Spain1 site, 1 recruiting
- Recruiting
University Hospital of Santiago de Compostela
Santiago de Compostela, A Coruña, 15706
Maria Luz Couce-Pico, MD, +34 981 950151, maria.luz.couce.pico@sergas.es
Orlando Fernnandez-Lago, +34 981 955498, orlando.fernandez.lago@sergas.es
About this study
Official title: Early Detection and Follow-Up of Patients With Fabry's Disease: New Biomarkers Approach
This research project will serve on the enhancement of early detection, diagnosis and follow-up of patients with Fabry Disease, through new biomarkers identification. This could have straight clinical impact on:
- Early diagnosis, follow-up, and prediction of treatment response.
- Suggestion about the optimal time to start treatment.
- The data obtained will help to deepen our knowledge of the correlation among Lyso-Gb3, genotype and phenotype.
- Better understanding of the pathophysiology of FD. To sum up, the results of the study will make a significant contribution to scientific knowledge providing new evidence with an immediate clinical application in FD patients.
As well as, the project will serve as the basis for a large-scale project implementation to validate the results obtained
Read the detailed description
The overall purpose of the study is to identify biomarkers for FD in order to improve early detection and diagnosis, define pathological phenotypes and facilitate the monitoring of the disease and its response to therapy.
4.1 Primary objective o Identification of biomarkers for FD, mainly linked with phenotype (classic vs late onset); clinical manifestations (renal, cardiac and cerebrovascular FD associated complications) and treatment response.
4.2 Secondary objective o Correlate proteomic and transcriptomic data with geno-phenotype and especially with Lyso-Gb3 levels.
5 Methods
5.1 Study design This clinical study is an international, multicenter, prospective, open, with control group protocol, collecting biological samples (blood plasma) in patients diagnosed with FD (treated and non-treated patients) and healthy subjects. The same procedures will be done both control and FD patients.
All participants will be recruited during 15 months and all procedures will be placed over a single visit. The study will include two groups:
- FD patients (treated and untreated)
- Healthy controls
This study will be carried out with 3'omics analytical platforms (metabolomics, transcriptomics and proteomics) will be applied. Patients will be recruited through the Association of Lysosomal Patients-MPS Spain and Portugal and clinicians from Expert Centers in Spain and Portugal in this disorder. Children and adults of both sexes with a diagnosis of FD are eligible (refer to Section 5.2.1 Inclusion criteria).
This study will be performed in accordance with guidelines approved by the Galician (Spain) and Portuguese Ethics Committees. Expressed consent from patients or legal guardian/legal representative members if available will be written indicating that they understand the purpose and the procedures required for the study and are willing to participate in the study.
The informed consent must be obtained before performance of any study-related activity.
Information related to the following variables will be collected from each subject: age, sex, age at diagnosis, clinical symptoms at diagnosis, time of evolution, concomitant medications and start date, genetic study, lyso-Gb3 levels and α-GalA enzymatic activity. Blood samples (EDTA anti-coagulated, PAXgene Blood RNA, and Serum tubes) from each centre will be sent to our laboratory for proteomic and transcriptomic research assessment. If subjects are under ERT for FD, preinfusion and postinfusion samples will be obtained.
Disease diagnosis and phenotype will be classified as classic or later onset according internationally established criteria [17,18]. Recruited patients can be included in the study without receiving prior treatment or with some of the pharmacological alternatives authorized for commercialization, either replacement enzyme therapy and/or pharmacological chaperones. The same evaluations will also be carried out in healthy agesex matched controls.
5.2 Study Population
The study will obtain biological samples (one sample of blood plasma per participant) from patients with diagnosis of FD, treated and non-treated, recruited through the Association of Lysosomal Patients-MPS Spain and Portugal and clinicians from Expert Centres in Spain and Portugal in this disorder. An age and sex-matched group of healthy subjects will serve as controls. Controls will be identified from volunteers and nonmedical staff at the Clinical Hospital University of Santiago. Controls will be required to have a negative family history for lysosomal storage disorders and no clinical signs of FD.
- Conditions
- Fabry's Disease
- Being tested
- extraction of blood samples
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
extraction of blood samplesOther
Two blood samples (3.5 ml each) will be collected directly into purple K2-EDTA tubes and stored at 4°C for up to 24 hours for analysis
| Study group | Role | What they receive |
|---|---|---|
| Fabry's disease | children and adults male or female between 6 and 70 years old, patients with diagnosis of FD, treated and non-treated Receives: Other: extraction of blood samples | |
| Healthy controls | age and sex-matched group of healthy subjects with a negative family history for lysosomal storage disorders and no clinical signs of FD. Receives: Other: extraction of blood samples |
What is being measured
The primary outcome is the main question the study is designed to answer.
Qualitative proteomic analysis
will identifiy all the proteins expressed in all samples. Functional and quantitative analysis in each group will be performed by FunRich software, String, Reactome and a label free approach (SWATH-MS; Sequential Window Acquisition of all Theoretical Mass Spectra). Information about the change of each protein will be made by MARKERVIEW software
Measured: 3 months
Transcriptomic study
includes sequencing of RNA libraries. FASTQ files will be analyzed by quantification of transcript expression using Salmon algorithm; correlation analysis and number of reads in each group with DESeq2 program obtaining PCA plot, p-value histogram, MA plot, Volcano Plot and correlation heatmap.
Measured: 3 months
Integrative analysis of Omics
will only considere transcripts relatively high-correlated or anti-correlated with proteins of interest in the data. Global Spearman's correlations will be calculated between proteomic and transcript in each group
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Apr 2021
- Study start1 Jan 2021
- Primary completionApr 2021 (estimated)
- Study completionDec 2022 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry's 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
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospital Clinico Universitario de Santiago
- Sponsor type
- University, hospital or other
- Collaborators
- Alvaro Hermida (Co-IP), Susana Belen Bravo, Maria Teresa Cardoso, Cristobal Colon Mejeras, Maria Jose de Castro, Emiliano Gonzalez-Vioque, Elisa Leal Teles, Saida Ortolano, Jose Victor Alvarez
- Responsible party
- Principal investigator, Maria Luz Couce Pico, Hospital Clinico Universitario de Santiago
- Investigators
- Maria Luz Couce-Pico, MD, Principal investigator, University Hospital of Santiago de Compostela
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04847713
- Sponsor's protocol ID
- CouFabry
- Status last verified
- Apr 2021
- First submitted
- 26 Mar 2021
- Last updated
- 19 Apr 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Apr 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Early Detection and Follow-Up of Patients With Fabry's Disease: New Biomarkers Approach
- ClinicalTrials.gov ID
- NCT04847713
- Acronym / sponsor ID
- CouFabry
- Conditions
- Fabry's Disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Hospital Clinico Universitario de SantiagoUniversity, hospital or other
- Collaborators
- Alvaro Hermida (Co-IP), Susana Belen Bravo, Maria Teresa Cardoso, Cristobal Colon Mejeras, Maria Jose de Castro, Emiliano Gonzalez-Vioque, Elisa Leal Teles, Saida Ortolano, Jose Victor Alvarez
- Study start
- 1 Jan 2021 (actual)
- Primary completion
- Apr 2021 (estimated)
- Study completion
- Dec 2022 (estimated)
- First posted
- 19 Apr 2021 (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.
This research project will serve on the enhancement of early detection, diagnosis and follow-up of patients with Fabry Disease, through new biomarkers identification. This could have straight clinical impact on:
- Early diagnosis, follow-up, and prediction of treatment response.
- Suggestion about the optimal time to start treatment.
- The data obtained will help to deepen our knowledge of the correlation among Lyso-Gb3, genotype and phenotype.
- Better understanding of the pathophysiology of FD. To sum up, the results of the study will make a significant contribution to scientific knowledge providing new evidence with an immediate clinical application in FD patients.
As well as, the project will serve as the basis for a large-scale project implementation to validate the results obtained
Detailed description
The overall purpose of the study is to identify biomarkers for FD in order to improve early detection and diagnosis, define pathological phenotypes and facilitate the monitoring of the disease and its response to therapy.
4.1 Primary objective o Identification of biomarkers for FD, mainly linked with phenotype (classic vs late onset); clinical manifestations (renal, cardiac and cerebrovascular FD associated complications) and treatment response.
4.2 Secondary objective o Correlate proteomic and transcriptomic data with geno-phenotype and especially with Lyso-Gb3 levels.
5 Methods
5.1 Study design This clinical study is an international, multicenter, prospective, open, with control group protocol, collecting biological samples (blood plasma) in patients diagnosed with FD (treated and non-treated patients) and healthy subjects. The same procedures will be done both control and FD patients.
All participants will be recruited during 15 months and all procedures will be placed over a single visit. The study will include two groups:
- FD patients (treated and untreated)
- Healthy controls
This study will be carried out with 3'omics analytical platforms (metabolomics, transcriptomics and proteomics) will be applied. Patients will be recruited through the Association of Lysosomal Patients-MPS Spain and Portugal and clinicians from Expert Centers in Spain and Portugal in this disorder. Children and adults of both sexes with a diagnosis of FD are eligible (refer to Section 5.2.1 Inclusion criteria).
This study will be performed in accordance with guidelines approved by the Galician (Spain) and Portuguese Ethics Committees. Expressed consent from patients or legal guardian/legal representative members if available will be written indicating that they understand the purpose and the procedures required for the study and are willing to participate in the study.
The informed consent must be obtained before performance of any study-related activity.
Information related to the following variables will be collected from each subject: age, sex, age at diagnosis, clinical symptoms at diagnosis, time of evolution, concomitant medications and start date, genetic study, lyso-Gb3 levels and α-GalA enzymatic activity. Blood samples (EDTA anti-coagulated, PAXgene Blood RNA, and Serum tubes) from each centre will be sent to our laboratory for proteomic and transcriptomic research assessment. If subjects are under ERT for FD, preinfusion and postinfusion samples will be obtained.
Disease diagnosis and phenotype will be classified as classic or later onset according internationally established criteria [17,18]. Recruited patients can be included in the study without receiving prior treatment or with some of the pharmacological alternatives authorized for commercialization, either replacement enzyme therapy and/or pharmacological chaperones. The same evaluations will also be carried out in healthy agesex matched controls.
5.2 Study Population
The study will obtain biological samples (one sample of blood plasma per participant) from patients with diagnosis of FD, treated and non-treated, recruited through the Association of Lysosomal Patients-MPS Spain and Portugal and clinicians from Expert Centres in Spain and Portugal in this disorder. An age and sex-matched group of healthy subjects will serve as controls. Controls will be identified from volunteers and nonmedical staff at the Clinical Hospital University of Santiago. Controls will be required to have a negative family history for lysosomal storage disorders and no clinical signs of FD.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Fabry's disease | – | Other: extraction of blood sampleschildren and adults male or female between 6 and 70 years old, patients with diagnosis of FD, treated and non-treated |
| Healthy controls | – | Other: extraction of blood samplesage and sex-matched group of healthy subjects with a negative family history for lysosomal storage disorders and no clinical signs of FD. |
Who may qualify
- Ages
- 6 to 70 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Study Population The study will obtain biological samples (one sample of blood plasma per participant) from patients with diagnosis of FD, treated and non-treated, recruited through the Association of Lysosomal Patients-MPS Spain and Portugal and clinicians from Expert Centres in Spain and Portugal in this disorder. An age and sex-matched group of healthy subjects will serve as controls. Controls will be identified from volunteers and nonmedical staff at the Clinical Hospital University of Santiago. Controls will be required to have a negative family history for lysosomal storage disorders and no clinical signs of FD. The same procedures will be done both control and FD patients.
Key inclusion criteria (4 listed)
- Age and gender: children and adults male or female between 6 and 70 years old.
- Patients or legal representative will be able to give written informed consent. Parent(s) or guardian(s), for subject under 18 years of age, must be willing and able to provide written, signed informed consent after the nature of the study has been explained and prior to performance of any research-related procedure.
- Patients with diagnosis biochemically confirmed by a decrease in the enzymatic activity of alpha-galactosidase or genetically by the presence of a pathogenic variant in GLA
- Controls: male or female subjects between 6 and 70 years old must be unaffected with Fabry Disease, and considered healthy with no previous history of diabetes mellitus, atherosclerotic vasculopathy or other inflammatory disease.
Key exclusion criteria (4 listed)
- Subject with inconclusive genetic diagnosis (i.e. carriers of variants of unknown significance (VUS) or variants with conflicting interpretations of pathogenicity).
- Subject with any medical or psychological disorder that, in the investigator's opinion, may interfere with the patient's ability to give his/her informed consent.
- Subject or legal representative unable to or unwilling to give informed consent.
- Subject participating in a study with an investigational drug within 3 months before consent.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| extraction of blood samplesTwo blood samples (3.5 ml each) will be collected directly into purple K2-EDTA tubes and stored at 4°C for up to 24 hours for analysis | Other | Fabry's disease, Healthy controls |
Primary outcome
Qualitative proteomic analysis
Time frame: 3 months
will identifiy all the proteins expressed in all samples. Functional and quantitative analysis in each group will be performed by FunRich software, String, Reactome and a label free approach (SWATH-MS; Sequential Window Acquisition of all Theoretical Mass Spectra). Information about the change of each protein will be made by MARKERVIEW software
Transcriptomic study
Time frame: 3 months
includes sequencing of RNA libraries. FASTQ files will be analyzed by quantification of transcript expression using Salmon algorithm; correlation analysis and number of reads in each group with DESeq2 program obtaining PCA plot, p-value histogram, MA plot, Volcano Plot and correlation heatmap.
Integrative analysis of Omics
Time frame: 6 months
will only considere transcripts relatively high-correlated or anti-correlated with proteins of interest in the data. Global Spearman's correlations will be calculated between proteomic and transcript in each group
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Apr 2021.
- Individual participant dataSharing planned: No
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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.
Maria Luz Couce-Pico, MD principal investigator
University Hospital of Santiago de Compostela
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's Disease, run by Hospital Clinico Universitario de Santiago 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 4 inclusion and 4 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: status not confirmed, as of the sponsor's last update on 19 Apr 2021. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Maria Luz Couce-Pico, MD (+34 981 950 151, maria.luz.couce.pico@sergas.es), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Qualitative proteomic analysis (time frame: 3 months). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 19 Apr 2021.