A Study of Genes that cause Cystic Kidney Disease


About this study

The overall objective of this study is to define genes causing cystic kidney disease and to determine the degree to which variants at these cystic kidney disease genes underlie the clinical diversity of these disorders. This will provide an insight into the disease mechanisms, and explore novel mutation screening methods.  A combination of mutation screening in clinically characterized human cystic kidney disease populations, gene hunting and exploration of incompletely penetrant alleles in humans will provide a comprehensive picture of how mutations cause the resulting phenotype.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

  • Any adult of a family with renal cystic kidney disease; affected or unaffected.
  • Females and males of any race or ethnic group.
  • Symptomatic children (0 – 17 years).
  • Children with a confirmed negative diagnosis (0 – 17 years).
  • Waste material from surgery.

Exclusion Criteria:

  • Individuals who are unable to sign consent (e.g., mentally challenged, those declared legally incompetent).
  • Individuals regarded as belonging to a vulnerable population (e.g., prisoners).
  • No age exclusion limit.
  • Individuals with HIV or hepatitis infection.


Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Peter Harris, Ph.D.

Open for enrollment

Contact information:

Charles Madsen CCRP

(507) 266-9391


More information


Publications are currently not available

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