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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT02495090
Other study ID # 9477
Secondary ID 2014-A01425-42
Status Completed
Phase N/A
First received
Last updated
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
Health authority
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

Study Design


Related Conditions & MeSH terms


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
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