ERKNet

The European Rare Kidney Disease Reference Network

  

Research Project

Project Title:

Identification of new genes associated to steroid resistant nephrotic syndrome (SRNS study)

Project Type:

Registry
Adjunct biobank: DNA, Serum, Plasma

Disease group(s):

Hereditary glomerulopathies, Immune glomerulopathies

Project Summary:

Aims of the study
The study is aimed at identifying the genetic causes of the autosomal dominant and recessive familial forms of SRNS, and secondly at verifying the contribution of the identified genetic factors in the sporadic forms of SRNS, in order to provide a genetic counselling and to help in the clinical management.

Primary outcomes
Genetic counselling.

Secondary outcomes
Improvement of the clinical management.

Inclusion criteria
- Affected, male and female, subjects or unaffected, male and female, subjects with an affected relative.
- for adults: written informed consent according to the guidelines of the Declaration of Helsinki.
- for children: written informed consent (according to the guidelines of the Declaration of Helsinki) of parent(s) or guardian. Anyway, if the minor is able to understand the information received from expert personnel in managing minors, it will be considered his willing to refuse the participation in the study or to withdraw at any time.

Exclusion criteria
- Legal incapacity (with the only exception of patients < 18 years of age).
- Previous diagnosis of: intellectual disability/mental retardation, dementia, schizophrenia.

Lead principal investigator(s):

Giuseppe Remuzzi, Bergamo

Co-investigator(s):

Daina Erica, Bergamo

Project Period:

08/2011   -   12/2020

Sponsors:

Non-profit foundation

Project web page:

http://registro.marionegri.it/frontend_eng/interno.php?id_studio=175

« Back to research page