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

NCT03114852 | Completed

• 1 other identifier: REGENT study
• Study Type: observational
• Target: 1,308
• Locations: 1 country
• Sites: 1

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.

Conditions

Kidney Diseases

Outcome Measures

Primary Outcomes (1)

• Frequency and numbers of patients with renal familial diseases that are on renal replacement therapy in southeast Brazil.

  We will proceed a clinical interview using a questionnaire focused on the family history, among each Brazilian patients from dialysis or transplant center from the region of Niteroi/Rio de Janeiro. Patients with a positive history of familial disease will be included as a "case of familial renal disease". The results of the interviews will be analysed to create a report about incidence and prevalence of genetic renal disease among the southeast Brazilian people. At the same time we are creating a genetic reservoir to characterization of renal diseases in southeast of Brazil and we are also creating the basis to a cohort study based these families, through a new recently created outpatient unit to take care of familial renal diseases to follow all these involved renal families.

  The familial epidemiological results will be ready up to 24 months form the start of the study.

Secondary Outcomes (1)

• Frequency of uromodulin and APOL-1 mutation in southeast Brazilian patients underwent renal replacement therapy

  From the time to DNA extraction, by using molecular studies, the DNA samples of each index cases will be analyised to uromodulin and APOL1, up to 48 months.

Study Arms (2)

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.

Diagnostic Test: blood collection

Renal Familiar Disease

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

Diagnostic Test: blood collection

Interventions

blood collection DIAGNOSTIC_TEST

They will have blood tested to renal genetic diseases

CKD patients; Renal Familiar Disease

Eligibility Criteria

• Age: 12 Months - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The population to be studied will be formed by southeast Brazilians that are on renal replacement therapy as dialysis or kidney transplantation. Such patients with renal diseases will answer a questionnaire about familial involvement. Some of them will be characterized as a familial index case of not yet determined genetic kidney disease.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Universidade Federal Fluminense: lead

Study Sites (1)

Universidade Federal Fluminense

Niterói, Rio de Janeiro, 24033900, Brazil

Location

Biospecimen

Retention: SAMPLES WITH DNA

A blood collection of patients with familial history of renal disease will be done to extract DNA and to perform analysis of mutations and sequencing. After that, the samples will not be retained.

MeSH Terms

Conditions

Kidney Diseases

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Jorge R Almeida, MD, PhD

  Universidade Federal Fluminense

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: March 20, 2017
• First Posted: April 14, 2017
• Study Start: March 20, 2017
• Primary Completion: December 20, 2019
• Study Completion: September 19, 2020
• Last Updated: September 22, 2020

Record last verified: 2019-08

Locations

BR (1)