## Protocol Section
### Identification Module
**NCT ID:** NCT06418230

**Acronym:** EXOCARI

**Brief Title:** EXOME SEQUENCING IN MEDULLARY SPONGE KIDNEY

**Official Title:** EXOME SEQUENCING IN MEDULLARY SPONGE KIDNEY

#### Organization Study ID Info
**ID:** 69HCL23-5392
#### Organization
**Class:** OTHER
**Full Name:** Hospices Civils de Lyon
### Status Module
#### Completion Date
**Date:** 2025-03-31

**Type:** ESTIMATED

#### Expanded Access Info
#### Last Update Post Date
**Date:** 2024-05-17

**Type:** ACTUAL

**Last Update Submit Date:** 2024-05-13

**Overall Status:** ACTIVE_NOT_RECRUITING

#### Primary Completion Date
**Date:** 2024-12-31

**Type:** ESTIMATED

#### Start Date
**Date:** 2024-01-02

**Type:** ACTUAL

**Status Verified Date:** 2024-05

#### Study First Post Date
**Date:** 2024-05-17
**Type:** ACTUAL
**Study First Submit Date:** 2024-05-13
**Study First Submit QC Date:** 2024-05-13
### Sponsor Collaborators Module

#### Lead Sponsor

**Class:** OTHER

**Name:** Hospices Civils de Lyon

#### Responsible Party

**Type:** SPONSOR

### Oversight Module

**Is FDA Regulated Device:** False

**Is FDA Regulated Drug:** False

**Oversight Has DMC:** False

### Description Module

**Brief Summary:** Medullary sponge kidney is a rare, underdiagnosed renal pathology, characterized by precalyceal dilatation of the renal tubes associated with active and recurrent stone disease with nephrocalcinosis, hypercalciuria and tubular dysfunction with, for example, acidification and urinary concentration defects.

The pathophysiology is poorly understood The prevalence and etiopathogenesis of the disease is not known Medullary sponge kidney is often characterized as a congenital pathology with delayed expression due to reported cases occurring in early childhood and associations with other congenital renal and extra-renal malformative pathologies, such as Wilms tumors, horseshoe kidney, contralateral renal hypoplasia, Beckwith-Wiedemann syndrome, Caroli disease, or congenital hepatic fibrosis, for example. However, no clear demonstration of the congenital nature has been established so far, and it is considered a sporadic disease.

However familial cases have been reported with an autosomal dominant mode.

The pathophysiology may involve disruptions in renal organogenesis, which depends on reciprocal inductive interactions necessary to coordinate nephrogenesis between the ureteric bud and the metanephric blastema during the 5th week of embryonic development. Some authors suggested that the GDNF and RET genes may be involved in the physiopathology of the disease.

For instance 12% of heterozygous patients for rare GDNF variants were identified in an Italian cohort of 57 medullary sponge kidney patients.

Other genes have been suggested to be involved in the pathophysiology based on reported cases, with no direct relationship demonstrated and their role remain putative Medullary sponge kidney disease is a debilitating condition, with the main symptoms being recurrent kidney stones and urinary infections.

Additional data are needed to determine the involvement of genetic anomalies in the pathophysiology of the condition.

The aim of the study is to describe the genetic variants identified with exome sequencing in medullary sponge kidney patients, in order to optimize management, especially for familial forms, and therapeutic interventions.

### Conditions Module

**Conditions:**

- Medulary Sponge Kidney

**Keywords:**

- exome

- nephrolithiasis

- medullary sponge kidney

### Design Module

#### Bio Spec

**Description:** 1 Urinary collection of the last 24 hours : Sodium, urea, creatinin, calcium, uric acid, oxalate, citrate, magnesium, albumin

1 Urine sample : CBEU, UB, cristallury, Ca/creat

1 Blood sample (20mL), including ionogram, albumin, creatinin, GFR (CKDEPI) (3mL) (3mL) ; PTH (4mL) ; 1-25 diOH Vit D (calcitriol) (4mL) ; 25OH Vit D (4mL)

1 blood sample (4mL) : exome analysis

**Retention:** SAMPLES_WITH_DNA

#### Design Info

**Observational Model:** COHORT

**Time Perspective:** RETROSPECTIVE

#### Enrollment Info

**Count:** 80

**Type:** ACTUAL

**Study Type:** OBSERVATIONAL

### Arms Interventions Module

#### Arm Group 1

**Description:** medullary sponge kidney attending medical consultation

**Label:** MEDULLARY SPONGE KIDNEY

### Outcomes Module

#### Primary Outcomes

**Measure:** Class 3, 4 and 5 variants detected at exome-sequencing

**Time Frame:** Baseline

### Eligibility Module

**Eligibility Criteria:** Inclusion Criteria:

* medullary sponge kidney attending medical consultation
* consent signed
* affiliated to social insurance scheme

Exclusion Criteria:

* legal protection measure (guardianship, curatorship)
* Deprived of liberty by a judicial or administrative decision
* subject participating in another research including an exclusion period still in progress at inclusion

**Gender Based:** True

**Minimum Age:** 18 Years

**Sampling Method:** NON_PROBABILITY_SAMPLE

**Sex:** ALL

**Standard Ages:**

- ADULT

- OLDER_ADULT

**Study Population:** The patients will be selected from the hospital Edouard Herriot nephrology and urology departments and frome from the hospital de la Conception nephrology and urology departments Around 80 Medullary sponge kidney patients are followed at these nephrology and urology departments

### Contacts Locations Module

#### Locations

**Location 1:**

**City:** Lyon

**Country:** France

**Facility:** Hôpital Edouard Herriot

**Zip:** 69003

**Location 2:**

**City:** Marseille

**Country:** France

**Facility:** Hôpital de la Conception

**Zip:** 13005

## Derived Section

### Condition Browse Module - Ancestors

- ID: D000052177

- Term: Kidney Diseases, Cystic

- ID: D000007674

- Term: Kidney Diseases

- ID: D000014570

- Term: Urologic Diseases

- ID: D000052776

- Term: Female Urogenital Diseases

- ID: D000005261

- Term: Female Urogenital Diseases and Pregnancy Complications

- ID: D000091642

- Term: Urogenital Diseases

- ID: D000052801

- Term: Male Urogenital Diseases

- ID: D000000015

- Term: Abnormalities, Multiple

- ID: D000000013

- Term: Congenital Abnormalities

- ID: D000072661

- Term: Ciliopathies

- ID: D000030342

- Term: Genetic Diseases, Inborn

### Condition Browse Module - Browse Branches

- Abbrev: BXS

- Name: Urinary Tract, Sexual Organs, and Pregnancy Conditions

- Abbrev: BC23

- Name: Symptoms and General Pathology

- Abbrev: All

- Name: All Conditions

- Abbrev: BC16

- Name: Diseases and Abnormalities at or Before Birth

- Abbrev: Rare

- Name: Rare Diseases

### Condition Browse Module - Browse Leaves

- ID: M10693

- Name: Kidney Calculi

- Relevance: LOW

- As Found: Unknown

- ID: M27126

- Name: Nephrolithiasis

- Relevance: LOW

- As Found: Unknown

- ID: M10713

- Name: Medullary Sponge Kidney

- Relevance: HIGH

- As Found: Sponge Kidney

- ID: M10698

- Name: Kidney Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M10712

- Name: Polycystic Kidney Diseases

- Relevance: HIGH

- As Found: Sponge Kidney

- ID: M26983

- Name: Kidney Diseases, Cystic

- Relevance: LOW

- As Found: Unknown

- ID: M17319

- Name: Urologic Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M2875

- Name: Urogenital Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M27093

- Name: Female Urogenital Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M14127

- Name: Pregnancy Complications

- Relevance: LOW

- As Found: Unknown

- ID: M8399

- Name: Female Urogenital Diseases and Pregnancy Complications

- Relevance: LOW

- As Found: Unknown

- ID: M27095

- Name: Male Urogenital Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M12

- Name: Congenital Abnormalities

- Relevance: LOW

- As Found: Unknown

- ID: M14

- Name: Abnormalities, Multiple

- Relevance: LOW

- As Found: Unknown

- ID: M1076

- Name: Ciliopathies

- Relevance: LOW

- As Found: Unknown

- ID: M23686

- Name: Genetic Diseases, Inborn

- Relevance: LOW

- As Found: Unknown

- ID: T3669

- Name: Medullary Sponge Kidney

- Relevance: HIGH

- As Found: Medullary Sponge Kidney

### Condition Browse Module - Meshes

- ID: D000007691

- Term: Medullary Sponge Kidney

- ID: D000007690

- Term: Polycystic Kidney Diseases

### Misc Info Module

- Version Holder: 2024-05-31
