Renal HYPODYSPLASIA : Genetic and Familial Assessment

Renal HYPODYSPLASIA;Study of Familial Cases and Search for Predisposing Genes

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00925379

Acronym

HDR

Enrollment

342

Registered

2009-06-22

Start date

2009-04-30

Completion date

2014-07-31

Last updated

2025-11-20

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Renal HYPODYSPLASIA, Nonsyndromic, 1

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

Age

3 Months to 18 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame
Evaluation of the heritability of renal HYPODYSPLASIA (on the renal ultra sound) and DNA collection to make possible identification of predisposing genes	the same day

Countries

France

Outcome results