Renal HYPODYSPLASIA : Genetic and Familial Assessment (HDR)

• ClinicalTrials.gov Identifier: NCT00925379
• Recruitment Status: Completed
• First Posted: June 22, 2009
• Last Update Posted: July 28, 2014
• Sponsor: Assistance Publique - Hôpitaux de Paris
• Information provided by (Responsible Party): Assistance Publique - Hôpitaux de Paris

Tracking Information

• First Submitted Date: June 19, 2009
• First Posted Date: June 22, 2009
• Last Update Posted Date: July 28, 2014
• Study Start Date: April 2009
• Actual Primary Completion Date: April 2013 (Final data collection date for primary outcome measure)
• Current Primary Outcome Measures (submitted: June 3, 2010): 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 ]
• Original Primary Outcome Measures (submitted: June 19, 2009): Evaluation of the heritability of renal hyposdysplasia and DNA collection to make possible identification of predisposing genes [ Time Frame: the same day ]
• Current Secondary Outcome Measures: Not Provided
• Original Secondary Outcome Measures: Not Provided
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Renal HYPODYSPLASIA : Genetic and Familial Assessment
• Official Title: Renal HYPODYSPLASIA;Study of Familial Cases and Search for Predisposing Genes
• Brief Summary: Evaluation of the frequency of familial cases of renal HYPODYSPLASIA

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: Observational
• Study Design: Observational Model: Cohort
• Target Follow-Up Duration: Not Provided

Biospecimen

Retention:   Samples With DNA

Description:

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.

• Sampling Method: Non-Probability Sample
• Study Population: Children with a bilateral renal hypodysplasia
• Condition: Renal HYPODYSPLASIA, Nonsyndromic, 1
• Intervention: Not Provided
• Study Groups/Cohorts: Not Provided
• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Completed
• Actual Enrollment (submitted: July 25, 2014): 342
• Original Estimated Enrollment (submitted: June 19, 2009): 300
• Actual Study Completion Date: July 2014
• Actual Primary Completion Date: April 2013 (Final data collection date for primary outcome measure)

Eligibility Criteria

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

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 3 Months to 18 Years (Child, Adult)
• Accepts Healthy Volunteers: No
• Contacts: Contact information is only displayed when the study is recruiting subjects
• Listed Location Countries: France

Administrative Information

• NCT Number: NCT00925379
• Other Study ID Numbers: P070151
• Has Data Monitoring Committee: No
• U.S. FDA-regulated Product: Not Provided
• IPD Sharing Statement: Not Provided
• Responsible Party: Assistance Publique - Hôpitaux de Paris
• Study Sponsor: Assistance Publique - Hôpitaux de Paris
• Collaborators: Not Provided

Investigators

• Principal Investigator: Remi Salomon, MD, PhD; Assistance Publique - Hôpitaux de Paris
• Principal Investigator: Vincent Guigonis, MD, PhD; University Hospital, Limoges

• PRS Account: Assistance Publique - Hôpitaux de Paris
• Verification Date: July 2014