## Protocol Section
### Identification Module
**NCT ID:** NCT00925379

**Acronym:** HDR

**Brief Title:** Renal HYPODYSPLASIA : Genetic and Familial Assessment

**Official Title:** Renal HYPODYSPLASIA;Study of Familial Cases and Search for Predisposing Genes

#### Organization Study ID Info
**ID:** P070151
#### Organization
**Class:** OTHER
**Full Name:** Assistance Publique - Hôpitaux de Paris
### Status Module
#### Completion Date
**Date:** 2014-07

**Type:** ACTUAL

#### Expanded Access Info
#### Last Update Post Date
**Date:** 2014-07-28

**Type:** ESTIMATED

**Last Update Submit Date:** 2014-07-25

**Overall Status:** COMPLETED

#### Primary Completion Date
**Date:** 2013-04

**Type:** ACTUAL

#### Start Date
**Date:** 2009-04

**Status Verified Date:** 2014-07

#### Study First Post Date
**Date:** 2009-06-22
**Type:** ESTIMATED
**Study First Submit Date:** 2009-06-19
**Study First Submit QC Date:** 2009-06-19
### Sponsor Collaborators Module

#### Lead Sponsor

**Class:** OTHER

**Name:** Assistance Publique - Hôpitaux de Paris

#### Responsible Party

**Type:** SPONSOR

### Oversight Module

**Oversight Has DMC:** False

### Description Module

**Brief Summary:** Evaluation of the frequency of familial cases of renal HYPODYSPLASIA

**Detailed Description:** DNA collection from the propositus and its family. A questionnaire will be filled by the parents to seek other affected individual in the family.With another affected member, DNA collection will be collected from the whole family.

A renal ultrasound will be prescribed for the parents, brothers and sisters.

### Conditions Module

**Conditions:**

- Renal HYPODYSPLASIA, Nonsyndromic, 1

### Design Module

#### Bio Spec

**Description:** DNA collection from the propositus and its parents and in case of families with more than one affected member, collection of DNA from the all family.

**Retention:** SAMPLES_WITH_DNA

#### Design Info

**Observational Model:** COHORT

#### Enrollment Info

**Count:** 342

**Type:** ACTUAL

**Study Type:** OBSERVATIONAL

### Outcomes Module

#### Primary Outcomes

**Measure:** Evaluation of the heritability of renal HYPODYSPLASIA (on the renal ultra sound) and DNA collection to make possible identification of predisposing genes

**Time Frame:** the same day

### Eligibility Module

**Eligibility Criteria:** Inclusion criteria :

- Children aged more than 3 months and less than 18 years old with a renal bilateral HYPODYSPLASIA set by renal ultrasound examination :

* renal size \< -2DS
* with/or hyperechogenicity or lack of cortical-medullary differentiation
* with/or renal cysts

Exclusion criteria :

* Bladder uropathy or sus-bladder uropathy
* Recessive or dominant renal polycystic disease
* Bardet-Biedl syndrome and other malformative syndromes except renal coloboma syndrome, Renal cysts and diabetes syndrome RCAD
* Lack of written informed consent

**Maximum Age:** 18 Years

**Minimum Age:** 3 Months

**Sampling Method:** NON_PROBABILITY_SAMPLE

**Sex:** ALL

**Standard Ages:**

- CHILD

- ADULT

**Study Population:** Children with a bilateral renal hypodysplasia

### Contacts Locations Module

#### Locations

**Location 1:**

**City:** Paris

**Country:** France

**Facility:** Necker Hospital

**Zip:** 75015

#### Overall Officials

**Official 1:**

**Affiliation:** Assistance Publique - Hôpitaux de Paris

**Name:** Remi Salomon, MD, PhD

**Role:** PRINCIPAL_INVESTIGATOR

**Official 2:**

**Affiliation:** University Hospital, Limoges

**Name:** Vincent Guigonis, MD, PhD

**Role:** PRINCIPAL_INVESTIGATOR

## Derived Section

### Condition Browse Module - Ancestors

- 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

### Condition Browse Module - Browse Branches

- Abbrev: BXS

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

- Abbrev: All

- Name: All Conditions

### Condition Browse Module - Browse Leaves

- ID: M10698

- Name: Kidney Diseases

- Relevance: HIGH

- As Found: Renal Hypodysplasia, Nonsyndromic, 1

- 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

### Condition Browse Module - Meshes

- ID: D000007674

- Term: Kidney Diseases

### Misc Info Module

- Version Holder: 2024-05-24
