Last updated on August 2020

Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD


Are you eligible to participate in this study?

You may be eligible for this study if you meet the following criteria:

  • Conditions: Polycystic Kidney | Autosomal Dominant
  • Age: Between 16 - 100 Years
  • Gender: Male or Female

Inclusion Criteria for the proband :

  • Patients with a diagnosis of ADPKD
  • Written Informed Consent
  • Affiliated or benefiting from a national insurance

Inclusion Criteria of the relatives (affected or non affected) :

  • Relatives with a diagnosis of ADPKD (ADPKD relatives)
  • And Relatives over age 30 for whom the diagnosis of ADPKD has been discarded (non ADPKD relatives) with renal ultrasonography performed after age 30.
  • Written Informed consent
  • Affiliated or benefiting from a national insurance

Exclusion Criteria for the Probands:

  • Subjects unable to provide written informed consent
  • Previous Molecular analysis of PKD1 and PKD2 genes with identification of the pathogenic mutation

Exclusion criteria for the Relatives:

  • Subjects unable to provide written informed consent
  • Age under 30 for the "non-affected" relatives

Recruitment Status: Open


Brief Description Eligibility Contact Research Team


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