Genes and the Kidney in Tuberous Sclerosis

Full Study Name

A Study of the Natural History of Renal Disease in TSC2/PKD1 Contiguous Gene Deletion Syndrome

Lead Site


Local Principal Investigator

Professor Julian Sampson

Study Status


Main Aims

The primary aim of this study is to determine the natural history of renal disease in patients with the TSC2/PKD1 contiguous gene deletion, specifically:
The secondary aims are:

  • To determine the difference in renal function decline between patients with the TSC2/PKD1 contiguous deletion and a mutation only in TSC1 or TSC2.
  • To determine the standardised mortality rates in the group of patients with TSC2/PKD1 deletions and their causes of death.
  • To describe the spectrum and severity of other features of TSC in this patient group.
  • To characterise as fully as possible the genomic extents of deletions at the TSC2/PKD1 locus in this group of patients and deduce the molecular mechanisms likely to lead to these deletions.
Inclusion Criteria
  •  confirmed contiguous TSC2/PKD1 gene deletions, or
  •  exclusive TSC2 gene mutations
  •  exclusive TSC1 gene mutations
Exclusion Criteria

Patients without alterations involving TSC1, TSC2 or TSC2/PKD1 contiguous deletion.

Open Sites

Birmingham, Sheffield, Bristol, Exeter, Manchester, Belfast, Cambridge, Southampton, Liverpool, Edinburgh, Glasgow, Nottingham, Aberdeen, Leeds, Dundee, Leicester, St George’s

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