Sickle Cell Disease
Conditions
Keywords
sickle cell disease, nephropathy
Brief summary
The objective of the study is to refine our knowledge on the physiopathology of the symptoms and the complications for the patients affected by a drepanocytic syndrome. The establishment of risk factors and indicators of severity will allow to target better the patients requiring an adequate strategy in order to prevent the installation of some complications or to limit their worsening.
Detailed description
Some additional tubes will be taken during the usual control of blood test of the drepanocytic patient. A sample of urine will be also asked. Tubes, after pre-treatment, will be sent to Erasme hospital. A series ob biological but also genetic parameters, both at asymptomatic patients and those in aigüe phase of the disease, can be measured either immediately or a little time after the prelevement. In this way, we can study numerous domains linked to the physiopathology of the drepanocytose (hémolyse, vaso-occlusion, rheology, factors modulators of the clinical expression). The surplus of the collection could be used for other researchs. It's in this context that we also wish to constitute a biobank of serum, plasma and urine for these drepanocytic patients by surplus of taken material. The study is realized within the framework of an academic collaboration between institutions. The bank of takings will be located in the reference center of the pathologies of the Red Blood Cell (laboratory of medical chemistry of the erasme hospital).
Interventions
GENETICsickle cell syndrome
Academic Study prospective multicenter observational factors responsible for nephropathy in patients with sickle cell disease followed by Belgium and the Nord-Pas -De- Calais Region and creating a biobank of blood and urine. In the population of patients with SCD followed in all participating centres. Know the prevalence of nephropathy and the relationship between it with their some of their genotypic mutations and clinical phenotype promoting mutated hemoglobin polymerization. Determine the behaviour of dense cells in the basal state and in a hypeosmolaire environment Determine the place of the erythrocyte microparticles as a biomarker of sickle cell nephropathy Studying genes known as risk factor for proteinuria Create a BioBank of samples of sickle cell patients in clinically stable condition for other research purposes.
Sponsors
Erasme University Hospital
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
17 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Patients 18 years or older with sickle cell syndrome * Signing an inform consent form after validation on it by the Ethics Committees of the participating centers.
Exclusion criteria
* Any pathology concomitant risk of nephropathy * Severe CVO within the month preceding the sampling * Transfusions within 3 months prior to sampling * Pregnant patient or within 3 months post- accouhcement
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Urinary Albumin | each year | Nephropathy Prevalence |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Erythrocyte Microparticles | each year | Sickle cell Nephropathy biomarker |
| Eythrocyte Deformability and Erythrocyte Agregation | each year | Sickle Cell Nephropathy Biomarker |
| Hp, ApoL1 and HO-1 gene | first year of inclusion | Sickle Cell Nephropathy risk factor |
Other
| Measure | Time frame | Description |
|---|---|---|
| Urine, Plasma and Serum aliquotes in a biobank | Each year | For additional projects |
Countries
Belgium
Contacts
Primary ContactBéatrice BG Gulbis, Phd MD
Backup ContactJonathan JB Brauner, Md
Outcome results
None listed