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

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ClinicalTrials.gov Identifier: NCT03114852
Recruitment Status : Recruiting
First Posted : April 14, 2017
Last Update Posted : August 28, 2019
Sponsor:
Information provided by (Responsible Party):
Jorge R Almeida, MD, Universidade Federal Fluminense

Tracking Information
First Submitted Date March 20, 2017
First Posted Date April 14, 2017
Last Update Posted Date August 28, 2019
Actual Study Start Date March 20, 2017
Estimated Primary Completion Date December 20, 2019   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: April 10, 2017)
Frequency and numbers of patients with renal familial diseases that are on renal replacement therapy in southeast Brazil. [ Time Frame: The familial epidemiological results will be ready up to 24 months form the start of the study. ]
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.
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: April 10, 2017)
Frequency of uromodulin and APOL-1 mutation in southeast Brazilian patients underwent renal replacement therapy [ Time Frame: 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. ]
A complete mutation analysis, with identification of polimorphism SNPs to uromodulin and APOL-1 will be place as an initial specific protocol by using extracted DNA from the familial index cases.
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title 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
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.
Study Type Observational
Study Design Observational Model: Family-Based
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
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.
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.
Condition Kidney Diseases
Intervention Diagnostic Test: blood collection
They will have blood tested to renal genetic diseases
Study Groups/Cohorts
  • 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.

    Intervention: Diagnostic Test: blood collection
  • Renal Familiar Disease
    'blood collection' They will have blood tested to renal genetic diseases
    Intervention: Diagnostic Test: blood collection
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: April 10, 2017)
1800
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 20, 2019
Estimated Primary Completion Date December 20, 2019   (Final data collection date for primary outcome measure)
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
Sex/Gender
Sexes Eligible for Study: All
Ages 12 Months to 80 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Jorge R Almeida, MD, PhD +55 21 983747176 jorgereis@id.uff.br
Contact: Cinthia C Abreu, MSc +55 21 985468018 cinthia_costa@id.uff.br
Listed Location Countries Brazil
Removed Location Countries  
 
Administrative Information
NCT Number NCT03114852
Other Study ID Numbers REGENT study
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Undecided
Responsible Party Jorge R Almeida, MD, Universidade Federal Fluminense
Study Sponsor Universidade Federal Fluminense
Collaborators Not Provided
Investigators
Principal Investigator: Jorge R Almeida, MD, PhD Universidade Federal Fluminense
PRS Account Universidade Federal Fluminense
Verification Date August 2019