Early Detection and Follow-Up of Patients With Fabry's Disease

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

Conditions

• Fabry's Disease

Interventions

OTHER

extraction of blood samples

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

Sponsors & Collaborators

• Alvaro Hermida (Co-IP)

  collaborator UNKNOWN

• Susana Belen Bravo

  collaborator UNKNOWN

• Maria Teresa Cardoso

  collaborator UNKNOWN

• Cristobal Colon Mejeras

  collaborator UNKNOWN

• Maria Jose de Castro

  collaborator UNKNOWN

• Emiliano Gonzalez-Vioque

  collaborator UNKNOWN

• Elisa Leal Teles

  collaborator UNKNOWN

• Saida Ortolano

  collaborator UNKNOWN

• Jose Victor Alvarez

  collaborator UNKNOWN

• Hospital Clinico Universitario de Santiago

  lead OTHER

Principal Investigators

• Maria Luz Couce-Pico, MD · University Hospital of Santiago de Compostela

Eligibility

Min Age

6 Years

Max Age

70 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2021-01-01

Primary Completion

2021-04-30

Completion

2022-12-31

Countries

• Spain

Study Locations