Clinical trial NCT03114852: Familiar Renal Disease, Epidemiology and Genetics in Niteroi/Rio de Janeiro
Official title: The REGENT Study: Familiar Renal Disease, Epidemiology and Genetics in Niteroi/Rio de Janeiro
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Kidney Diseases
Lead sponsor: Universidade Federal Fluminense
Sponsor class: OTHER
First posted: 2017-04-14
Enrollment: 1308
Sex: ALL
Minimum age (years): 12
Maximum age (years): 80
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
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.

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.

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

Primary outcomes:
measure: Frequency and numbers of patients with renal familial diseases that are on renal replacement therapy in southeast Brazil.
timeFrame: The familial epidemiological results will be ready up to 24 months form the start of the study.
Secondary outcomes:
measure: Frequency of uromodulin and APOL-1 mutation in southeast Brazilian patients underwent renal replacement therapy
timeFrame: 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.
Other outcomes:
Locations:
city: Niteroi
country: Brazil
facility: Universidade Federal Fluminense
state: RIO DE Janeiro
Study officials:
affiliation: Universidade Federal Fluminense
name: Jorge R Almeida, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: