Renal HYPODYSPLASIA : Genetic and Familial Assessment (HDR)

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris Identifier:
First received: June 19, 2009
Last updated: May 13, 2013
Last verified: May 2013

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 ] [ 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.

Estimated Enrollment: 300
Study Start Date: April 2009
Estimated Study Completion Date: September 2013
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
Genders Eligible for Study:   Both
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
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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 AP-HP
Principal Investigator: Vincent Guigonis, MD, PhD University Hospital, Limoges
  More Information

No publications provided

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: May 13, 2013
Health Authority: France: Ministry of Health processed this record on July 22, 2014