Renal HYPODYSPLASIA : Genetic and Familial Assessment (HDR)
Renal HYPODYSPLASIA;Study of Familial Cases and Search for Predisposing Genes
Study Overview
Status
Status
Conditions
Conditions
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.
Study Type
Study Type
Enrollment (Actual)
Enrollment
Contacts and Locations
Study Locations
-
-
-
Paris, France, 75015
- Necker Hospital
-
-
Participation Criteria
Eligibility Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
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
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
What is the study measuring?
Primary Outcome Measures
Primary Outcome Measures
Outcome 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
Time Frame: the same day
|
the same day
|
Collaborators and Investigators
Sponsor
Sponsor
Collaborators
Collaborators
Investigators
Investigators
- Principal Investigator: Remi Salomon, MD, PhD, Assistance Publique - Hôpitaux de Paris
- Principal Investigator: Vincent Guigonis, MD, PhD, University Hospital, Limoges
Study record dates
Study Major Dates
Study Start
Study Start
Primary Completion (Actual)
Primary Completion
Study Completion (Actual)
Study Completion
Study Registration Dates
First Submitted
First Submitted
First Submitted That Met QC Criteria
First Submitted That Met QC Criteria
First Posted (Estimated)
First Posted
Study Record Updates
Last Update Posted (Actual)
Last Update Posted
Last Update Submitted That Met QC Criteria
Last Update Submitted That Met QC Criteria
Last Verified
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
Other Study ID Numbers
- P070151
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
product manufactured in and exported from the U.S.
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.