Hypospadias and Exome: Identification of New Genes for Familial Hypospadias

Hypospadias Clinical Trial

Official title:

Hypospadias and Exome: Identification of New Genes for Familial Hypospadias

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02495090
• Other study ID #: 9477
• Secondary ID: 2014-A01425-42
• Status: Completed
• Phase: N/A
• Start date: November 13, 2014
• Est. completion date: April 24, 2024

Study information

• Verified date: April 2024
• Source: University Hospital, Montpellier
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

Hypospadias is the second most common malformation of the male genitalia and consists in a congenital hypoplasia of its ventral face. Hypospadias results from abnormal development of the penis that leaves the urethral meatus proximal to its normal glanular position. Meatus position may be located anywhere along the penile shaft, but more severe forms of hypospadias may have a urethral meatus located at the scrotum or perineum. Glandular and penile anterior represents approximately 70% of all the diagnosed cases.

The frequency of family reached depend on the severity of hypospadias. The number of children which have hypospadias mutation discovered by classical technique is low. Families are often the cause of the discovery of new genes involved in sexual differentiation because they allow comparison of genomes of related persons, and detect more easily mutations.

Description:

The aim of this protocol is to search for new genes involved in genital malformations such as hypospadias. Addressed to families with usual causes of these malformations excluded. The search for these mutations will be done by exome sequencing in families where several cases of hypospadias were identified.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 60
• Est. completion date: April 24, 2024
• Est. primary completion date: November 12, 2015
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Hypospadiac patients with a familial history of hypospadias

Exclusion Criteria:

• Hypospadiac patients without a family history of hypospadias

• Hypospadiac patients with a family history of hypospadias where etiology is identified

Related Conditions & MeSH terms

• Hypospadias

Intervention

Genetic:
• Exome sequencing
Plain DNA sequencing

Locations

Country	Name	City	State
France	Hôpital Lapeyronie	Montpellier Cedex 5

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Montpellier

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	number of new genetic variants	exome sequencing	1 day