Renal HYPODYSPLASIA : Genetic and Familial Assessment (HDR)
Evaluation of the frequency of familial cases of renal HYPODYSPLASIA
Renal HYPODYSPLASIA, Nonsyndromic, 1
|Study Design:||Observational Model: Cohort|
|Official Title:||Renal HYPODYSPLASIA;Study of Familial Cases and Search for Predisposing Genes|
- 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 ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
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.
|Study Start Date:||April 2009|
|Estimated Study Completion Date:||September 2013|
|Primary Completion Date:||April 2013 (Final data collection date for primary outcome measure)|
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.
|Paris, France, 75015|
|Principal Investigator:||Remi Salomon, MD, PhD||AP-HP|
|Principal Investigator:||Vincent Guigonis, MD, PhD||CHU Dupuytren|