Clinical Trial Details
— Status: Recruiting
Administrative data
| NCT number |
NCT04847713 |
| Other study ID # |
CouFabry |
| Secondary ID |
|
| Status |
Recruiting |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
January 1, 2021 |
| Est. completion date |
December 2022 |
Study information
| Verified date |
April 2021 |
| Source |
Hospital Clinico Universitario de Santiago |
| Contact |
Maria Luz Couce-Pico, MD |
| Phone |
+34 981 950 151 |
| Email |
maria.luz.couce.pico[@]sergas.es |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical 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. Suggestion about the optimal time to start treatment.
3. The data obtained will help to deepen our knowledge of the correlation among Lyso-Gb3,
genotype and phenotype.
4. 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
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.
