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Renal HYPODYSPLASIA : Genetic and Familial Assessment (HDR)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00925379
Recruitment Status : Completed
First Posted : June 22, 2009
Last Update Posted : July 28, 2014
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

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

Condition or disease
Renal HYPODYSPLASIA, Nonsyndromic, 1

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.

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Study Type : Observational
Actual Enrollment : 342 participants
Observational Model: Cohort
Official Title: Renal HYPODYSPLASIA;Study of Familial Cases and Search for Predisposing Genes
Study Start Date : April 2009
Actual Primary Completion Date : April 2013
Actual Study Completion Date : July 2014

Primary Outcome Measures :
  1. 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 ]

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.

Information from the National Library of Medicine

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Ages Eligible for Study:   3 Months to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Children with a bilateral renal hypodysplasia

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00925379

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Necker Hospital
Paris, France, 75015
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
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Principal Investigator: Remi Salomon, MD, PhD Assistance Publique - Hôpitaux de Paris
Principal Investigator: Vincent Guigonis, MD, PhD University Hospital, Limoges
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Responsible Party: Assistance Publique - Hôpitaux de Paris Identifier: NCT00925379    
Other Study ID Numbers: P070151
First Posted: June 22, 2009    Key Record Dates
Last Update Posted: July 28, 2014
Last Verified: July 2014
Additional relevant MeSH terms:
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Kidney Diseases
Urologic Diseases