Hypospadias and Exome: Identification of New Genes for Familial Hypospadias
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|ClinicalTrials.gov Identifier: NCT02495090|
Recruitment Status : Unknown
Verified June 2015 by University Hospital, Montpellier.
Recruitment status was: Enrolling by invitation
First Posted : July 13, 2015
Last Update Posted : July 13, 2015
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.
|Condition or disease||Intervention/treatment||Phase|
|Hypospadias||Genetic: Exome sequencing||Not Applicable|
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||50 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Hypospadias and Exome: Identification of New Genes for Familial Hypospadias|
|Study Start Date :||November 2014|
|Estimated Primary Completion Date :||June 2016|
|Estimated Study Completion Date :||November 2016|
Familial hypospadias trios (patients + parents)
Genetic: Exome sequencing
Plain DNA sequencing
- number of new genetic variants [ Time Frame: 1 day ]exome sequencing
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02495090
|Montpellier Cedex 5, France, 34295|
|Principal Investigator:||Nicolas Kalfa, MD, PhD||UH Montpellier|