Familiar Renal Disease, Epidemiology and Genetics in Niteroi/Rio de Janeiro

NCT ID: NCT03114852

Last Updated: 2020-09-22

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 1308 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2017-03-20
• Study Completion Date: 2020-09-19

Brief Summary

The REGENT study (Familiar Renal Disease, Epidemiology and Genetics in Niteroi/Rio de Janeiro) is a epidemiological study that try to identify and clinically describe questions about genetic renal diseases in a southeast Brazilian population undergoing renal replacement therapy.

Detailed Description

In Brazil, several kidney diseases have unknown etiological diagnosis, among them, hereditary renal diseases. The lack of technical-scientific knowledge and patients' access to the health service hinder the correct diagnosis, so that hundreds of patients with chronic kidney disease (CKD) are unaware of the origin of their kidney problems. The objective of this REGENT study (Renal epidemiology and genetics in Niteroi) is to identify and characterize the cases of possible inheritance of CKD in patients undergoing dialysis or kidney transplant treatment in the metropolitan region II of the state of Rio de Janeiro. In this metropolitan region, based in the city of Niteroi, there are 10 hemodialysis clinics accounting for approximately 1500 - 1800 patients. There is a central Hospital that works as an official reference center for all those CKD patients (Hospital Universitario Antonio Pedro). This hospital belongs to the Universidade Federal Fluminense, an academic research institution, where this project will be executed. There is also a kidney transplant unit working at the Hospital Universitario Antonio Pedro. Interviews, sociodemographic and clinical data collection will be performed in patients with CKD from these centers. The interview contains questions about family CKD: Does any family member undergo hemodialysis or peritoneal dialysis? Does any family member do/did conservative treatment for CKD? Has any family member had a kidney transplant? Has any family member died due to chronic kidney disease? In cases of any affirmative answer to one of the above questions, patients will be classified as a "family index case". The cases of familial kidney disease caused by diabetes, and polycystic kidney disease will be excluded. So, the remaining cases will be considered as "index cases" to be more described and characterized. In this way, an affirmative response to the survey will create a group of familial CKD, and it will allow us to identify them as a suspected genetic kidney disease. These patients will be analyzed as a group, and clinical histories and blood tests to genetic renal diseases will also be performed, when possible, depending on the availability. From these identified index cases, we will try to create familiar clinical description of each individual in every family. A new outpatient section is being created at the Hospital Universitario Antonio Pedro to take multidisciplinary care of the relatives and entire families in a special type of family primary care.

Conditions

Kidney Diseases

Study Design

• Observational Model Type: FAMILY_BASED
• Study Time Perspective: PROSPECTIVE

Study Groups

CKD patients

'blood collection'

Patients with chronic kidney disease in renal replacement therapy living in the sanitary administrative region of Niteroi/Rio de Janeiro. They will be interviewed about past history of familiar renal disease. They will have blood functional renal biochemistry analysed.

blood collection

Intervention Type: DIAGNOSTIC_TEST

They will have blood tested to renal genetic diseases

Renal Familiar Disease

'blood collection' They will have blood tested to renal genetic diseases

blood collection

Intervention Type: DIAGNOSTIC_TEST

They will have blood tested to renal genetic diseases

Interventions

blood collection

They will have blood tested to renal genetic diseases

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

Inclusion Criteria

• Brazilian patients underwent any type of renal replacement therapy, dialysis or kidney transplantation living in the area of Niteroi/Rio de Janeiro.
• Relatives among the familial people of the index cases.

Exclusion Criteria

• Diabetic Nephropathy
• Non-familial cases of known Glomerulonephritis
• Refuse in participating of interview and blood collection to genetic tests

• Minimum Eligible Age: 12 Months
• Maximum Eligible Age: 80 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Universidade Federal Fluminense

OTHER

Sponsor Role: lead

Responsible Party

Jorge R Almeida, MD

Professor

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Jorge R Almeida, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Universidade Federal Fluminense

Locations

Universidade Federal Fluminense

Niterói, Rio de Janeiro, Brazil

Countries

Brazil

Other Identifiers

REGENT study

Identifier Type: -

Identifier Source: org_study_id