Repository Study of Autosomal Dominant Polycystic Kidney Disease

NCT01988038 | Withdrawn

• 1 other identifier: 1305013979
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief Summary

The design and establishment of the Polycystic Kidney Disease (PKD) Data Repository does not require, and may be constrained by, a narrowly conceived hypothesis. However, the PKD Repository has been designed to include demographic, clinical, biochemical, and genetic data that will further explore the natural history of the disorder and assess the factors that are likely to be associated with the progression of disease and the incidence of complications including renal failure, cardiovascular disease, and stroke.

Conditions

Autosomal Dominant Polycystic Kidney Disease

Keywords

Polycystic Kidney Disease; Autosomal Dominant Polycystic Kidney Disease; Disease Progression

Outcome Measures

Primary Outcomes (1)

• Natural history of Autosomal Dominant Polycystic Kidney Disease (ADPKD) progression

  The primary interest of this protocol is to characterize the renal and extrarenal manifestations of ADPKD, evaluate the natural history of the disease progression, and explore potential associations between PKD gene variants and ADPKD phenotype.

  Up to 20 years

Study Arms (1)

No treatment

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All patients enrolled in this study will have the diagnosis of autosomal dominant polycystic kidney disease (ADPKD). The diagnostic criteria for at-risk individuals (i.e., with a first degree family member with ADPKD) includes the presence of at least two (unilateral or bilateral) renal cysts, and two cysts in each kidney are considered sufficient for diagnosis in aged 15 to 29 years and in 30 to 59 years, respectively. In families of unknown genotype, the presence of one or more (unilateral or bilateral) renal cysts is sufficient for establishing the diagnosis in individuals aged 15 to 29 years, two or more cysts in each kidney is sufficient for individuals aged 30-49 years.

You may qualify if:

• Males and females
• Age 18 years and older
• Previously diagnosed with ADPKD

You may not qualify if:

• Inability to provide informed consent

Sponsors & Collaborators

• The Rogosin Institute: lead
• Weill Medical College of Cornell University: collaborator
• New York Presbyterian Hospital: collaborator

Study Sites (1)

The Rogosin Institute

New York, New York, 10021, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample for genotyping of specific PKD1 and PKD2 mutations. Buccal and/or semen sample (optional and only if needed)

MeSH Terms

Conditions

Polycystic Kidney, Autosomal Dominant; Polycystic Kidney Diseases; Disease Progression

Condition Hierarchy (Ancestors)

Kidney Diseases, Cystic; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Ciliopathies; Genetic Diseases, Inborn; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Jon Blumenfeld, MD

  The Rogosin Institute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 20 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 7, 2013
• First Posted: November 20, 2013
• Study Start: November 1, 2013
• Primary Completion: June 1, 2016
• Study Completion: June 1, 2016
• Last Updated: March 29, 2017

Record last verified: 2017-03

Locations

US (1)