Evaluation of Prevalence, Molecular and Genetic Backgrounds of Calcium-Based Stones Among Patients With Renal Calcular Disease in Mansoura Urology and Nephrology Center

Sponsor

Mansoura University (Other)

Overall Status

Recruiting

CT.gov ID

NCT05972408

Collaborator

(none)

700

Enrollment

Location

29.4

Anticipated Duration (Months)

23.8

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

Evaluation of Prevalence, Molecular and Genetic Backgrounds of Calcium-Based stones among Patients with Renal Calcular Disease in Mansoura Urology and Nephrology Center

Condition or Disease	Intervention/Treatment	Phase
Renal Calculi	Procedure: percutaneous nephrlolithotomy Genetic: VDR gene, CASR gene	N/A

Detailed Description

Back ground: Nephrolithiasis is a prevalent disease with high morbidity, the incidence and prevalence of nephrolithiasis has risen worldwide. Calcium nephrolithiasis may be considered as a complex disease having multiple pathogenic mechanisms and characterized by various clinical manifestations. Both genetic and environmental factors may increase susceptibility to calcium stones. Polymorphisms of vitamin D receptor (VDR), calcium-sensing receptor gene (CASR) and AGXT have been associated with risk of urolithiasis, but, with inconsistent results and lack data from Egyptian population.

Objective: Therefore, the present study aims to investigate the prevalence, mutational profile for these genes in patients with Ca-based stones, admitted to Mansoura Urology and Nephrology Center.

Methodology: In this study, employing sequencing of the coding exons of the calcium-sensing receptor gene (CASR), vitamin D receptor (VDR) and AGXT for a 50 of Egyptian calcium kidney stone-formers and 20 control subjects. The results of the mutational profile data will be correlated with risk of stone recurrence over 2 years.

Study Design

Study Type:

Interventional

Anticipated Enrollment :

700 participants

Allocation:

Non-Randomized

Intervention Model:

Sequential Assignment

Intervention Model Description:

PCNL for patients with radio-opaque renal stonesPCNL for patients with radio-opaque renal stones

Masking:

None (Open Label)

Primary Purpose:

Screening

Official Title:

Evaluation of Prevalence, Molecular and Genetic Backgrounds of Calcium-Based Stones Among Patients With Renal Calcular Disease in Mansoura Urology and Nephrology Center

Actual Study Start Date :

Mar 21, 2021

Anticipated Primary Completion Date :

Sep 1, 2023

Anticipated Study Completion Date :

Sep 1, 2023

Outcome Measures

Primary Outcome Measures

prevalence of Ca-based renal stones [two years]
Prevalence of Ca stones among patients with kidney stone disease admitted in Mansoura UNC throughout the study duration. Identification of metabolic derangement and genomic alterations in patients with renal Ca stones (CASR, and VDR genes)

Secondary Outcome Measures

Stone recurrence [two years]
Evaluation of the possible correlation of detected genomic mutations with stone recurrence at 2 years following stone management.

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

Inclusion Criteria:

All patients with unilateral or bilateral renal stones (de novo or recurrent) who were candidates for endoscopic or surgical intervention were included. Metabolic workup was done for selected patients with radio-opaque stones, while genetic testing was done for those with dominant Ca composition proven by postoperative stone analysis. Thirty healthy individuals with no urologic abnormalities were involved as control cases. Patients with renal calculi for whom metabolic and genetic testing were performed are designated "α" cases.

Exclusion Criteria:

For metabolic and genetic testing, patients with a well-known lesion precipitating stone disease were excluded e.g. ureteric stricture, ureteropelvic or ureterovesical junction obstruction, urinary diversion, history of ureterovesical re-implantation as well as patients with non-Ca stones by post-operative stone analysis

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Mansoura University	Mansoura	Outside U.S./Canada	Egypt	35561

Sponsors and Collaborators

Mansoura University

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

Wang C, Lu J, Lang Y, Liu T, Wang X, Zhao X, Shao L. Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones. Sci Rep. 2016 Sep 20;6:33652. doi: 10.1038/srep33652.

Responsible Party:

Ahmed Abolazm, MD, Mansoura University

ClinicalTrials.gov Identifier:

NCT05972408

Other Study ID Numbers:

MD.21.02.426

First Posted:

Aug 2, 2023

Last Update Posted:

Aug 2, 2023

Last Verified:

Jul 1, 2023

Individual Participant Data (IPD) Sharing Statement:

Plan to Share IPD:

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Keywords provided by Ahmed Abolazm, MD, Mansoura University

renal calculi, Renal Ca oxalate stones, VDR gene

Additional relevant MeSH terms:

Kidney Calculi

Nephrolithiasis

Calculi

Study Results

No Results Posted as of Aug 2, 2023