Autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney disease, is a systemic disorder in which cyst growth and kidney enlargement leads to progressive decline in kidney function. ADPKD is characterized by early onset hypertension before loss of kidney function. The ADPKD Genetic Modifier Study was established to identify genetic factors that influence the severity of kidney disease in ADPKD patients.

Participants and family members of HALT-PKD clinical trial and CRISP observational study participants are eligible to participate in the ADPKD Genetic Modifier study, along with other ADPKD patients from recruitment sites and from collaborating sites. Of those who enroll in the observational Genetic Modifier study, information is collected on family history of ADPKD and medical history. Participants also provide a blood sample for DNA isolation and measurement of kidney function. Data will be used for a genome-wide association study with the aim of identifying genes associated with the severity of disease in ADPKD patients. Through genetic analyses, the study seeks ultimately to identify proteins and cellular pathways involved in the development of ADPKD and thus to improve the ability of predicting onset of renal insufficiency in patients and guide treatment.

This study is ongoing.

The ADPKD Genetic Modifier study aims to identify genetic factors that influence the severity of kidney disease in ADPKD patients through genome-wide association studies of family members of PKD patients.

Participants and family members of HALT-PKD clinical trial and CRISP observational study participants are eligible to participate in the ADPKD Genetic Modifier study, along with other ADPKD patients from recruitment sites and from collaborating sites.

This study is ongoing.