Hypospadias and Exome: Identification of New Genes for Familial Hypospadias

• Sponsor: University Hospital, Montpellier (Other)
• Overall Status: Unknown status
• CT.gov ID: NCT02495090
• Collaborator: (none)
• Enrollment: 50
• Location: 1
• Arm: 1
• Duration (Months): 24
• Patients Per Site Per Month: 2.1

Study Details

Study Description

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	N/A

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.

Study Design

• Study Type: Interventional
• Anticipated 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: Nov 1, 2014
• Anticipated Primary Completion Date: Jun 1, 2016
• Anticipated Study Completion Date: Nov 1, 2016

Arms and Interventions

Arm	Intervention/Treatment
Other: Hypospadias Familial hypospadias trios (patients + parents)	Genetic: Exome sequencing; Plain DNA sequencing

Outcome Measures

Primary Outcome Measures

1. number of new genetic variants [1 day]

   exome sequencing

Eligibility Criteria

Criteria

• Ages Eligible for Study: N/A and Older
• 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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Hôpital Lapeyronie	Montpellier Cedex 5		France	34295

Sponsors and Collaborators

• University Hospital, Montpellier

Investigators

• Principal Investigator: Nicolas Kalfa, MD, PhD, UH Montpellier

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: University Hospital, Montpellier
• ClinicalTrials.gov Identifier: NCT02495090
• Other Study ID Numbers: 9477; 2014-A01425-42
• First Posted: Jul 13, 2015
• Last Update Posted: Jul 13, 2015
• Last Verified: Jun 1, 2015

• Keywords provided by University Hospital, Montpellier: Hypospadias; exome sequencing; genital malformation
• Additional relevant MeSH terms: Hypospadias

Study Results

No Results Posted as of Jul 13, 2015