Clinical Registry of SRNS Patients

A web-based registry for SRNS patients will be established to collect detailed clinical information on the manifestation, treatment and course of SRNS, on familial occurrence and potentially associated extrarenal symptoms.

The registry will pursue the following objectives:

  • to establish demographic data relating to the incidence of SRNS, the fraction of patients responding to intensified immunosuppressive protocols and the incidence of cases caused by individual genetic defects, including syndromal and familial forms of SRNS
  • to assess the clinical course of global kidney function, the incidence of end-stage renal failure and the rate of recurrence of SRNS in renal allografts
  • to determine of the frequency of complications of SRNS and its treatment
  • to establish genotype-phenotype associations of individual genetic anomalies causing SRNS
  • to provide information fostering the development of rational, evidence-based clinical practice guidelines for the diagnostic and therapeutic management of SRNS

All available SRNS patients with first disease manifestation in the past five years will be eligible. Moreover, familial and syndromal cases will be collected irrespective of the date of first manifestation. Clinical updates will be obtained every 6 months.
In addition, the participating centers will be asked to initiate a standardized genetic diagnostic work-up if not done so already. This will comprise:

  • SRNS with congenital onset: NPHS1, NPHS2 in NPHS1-negative cases
  • SRNS with post-neonatal onset unresponsive to intensified immunosuppression: NPHS2, NPHS1 in NPHS2-negative cases
  • Female patients negative for NPHS1, NPHS2: WT1 exons 8 and 9.
  • Adult sporadic and all autosomal dominant SRNS: CD2AP, ACTN4 and TRPC6 (performed in Bergamo laboratory)

The results of testing for known SRNS-associated genes will be recorded in the Registry.
DNA samples will be collected from all patients where no genetic diagnosis could be established.

A steering committee will define the items to be evaluated in the Registry, develop diagnostic and therapeutic guidelines to be posted on the Website, promote and monitor the participation of the national societies in the collaboration, coordinate the cooperation of the molecular genetics laboratories in screening for novel candidate genes and define the statistical analyses to be performed on the data collected in the Registry.

The project will undergo local ethical review in each participating clinical center according to national legal requirements. Utmost attention will be given to protection of personal data. Patients will be pseudonymized by assignment of a center and patient code. DNA samples will undergo separate pseudonymization. Only coded information will be transmitted to the coordinating center. The annotation of the codes to the patient identity will only be known to the local physician. If significant genetic or biochemical anomalies are detected in the course of the study in a particular patient, the information will be transmitted to the local physician who will decide, in conjunction with the regulations laid down by the local ethics committees, whether to pass on the information to the patient’s family.