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Hypospadias and Exome: Identification of New Genes for Familial Hypospadias

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. 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
Information provided by (Responsible Party):
University Hospital, Montpellier

Brief 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.

Condition or disease Intervention/treatment Phase
Hypospadias Genetic: Exome sequencing Not Applicable

Detailed 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.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 50 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
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

Resource links provided by the National Library of Medicine

Arm Intervention/treatment
Familial hypospadias trios (patients + parents)
Genetic: Exome sequencing
Plain DNA sequencing

Primary Outcome Measures :
  1. number of new genetic variants [ Time Frame: 1 day ]
    exome sequencing

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

Information from the National Library of Medicine

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 identifier (NCT number): NCT02495090

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Hôpital Lapeyronie
Montpellier Cedex 5, France, 34295
Sponsors and Collaborators
University Hospital, Montpellier
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Principal Investigator: Nicolas Kalfa, MD, PhD UH Montpellier
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Responsible Party: University Hospital, Montpellier Identifier: NCT02495090    
Other Study ID Numbers: 9477
2014-A01425-42 ( Registry Identifier: ID RCB )
First Posted: July 13, 2015    Key Record Dates
Last Update Posted: July 13, 2015
Last Verified: June 2015
Keywords provided by University Hospital, Montpellier:
exome sequencing
genital malformation
Additional relevant MeSH terms:
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Penile Diseases
Urogenital Abnormalities
Congenital Abnormalities