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Renal HYPODYSPLASIA : Genetic and Familial Assessment (HDR)

This study has been completed.
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris Identifier:
First received: June 19, 2009
Last updated: July 25, 2014
Last verified: July 2014
Evaluation of the frequency of familial cases of renal HYPODYSPLASIA

Renal HYPODYSPLASIA, Nonsyndromic, 1

Study Type: Observational
Study Design: Observational Model: Cohort
Official Title: Renal HYPODYSPLASIA;Study of Familial Cases and Search for Predisposing Genes

Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • 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.

Enrollment: 342
Study Start Date: April 2009
Study Completion Date: July 2014
Primary Completion Date: April 2013 (Final data collection date for primary outcome measure)
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.


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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00925379

Necker Hospital
Paris, France, 75015
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Principal Investigator: Remi Salomon, MD, PhD Assistance Publique - Hôpitaux de Paris
Principal Investigator: Vincent Guigonis, MD, PhD University Hospital, Limoges
  More Information

Responsible Party: Assistance Publique - Hôpitaux de Paris Identifier: NCT00925379     History of Changes
Other Study ID Numbers: P070151
Study First Received: June 19, 2009
Last Updated: July 25, 2014

Additional relevant MeSH terms:
Kidney Diseases
Urologic Diseases processed this record on August 17, 2017