Hypospadias and Exome: Identification of New Genes for Familial Hypospadias

NCT02495090 | Completed DMC

• 2 other identifiers: 94772014-A01425-42
• Study Type: interventional
• Target: 60
• Locations: 1 country
• Sites: 1

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.

Conditions

Hypospadias

Keywords

Hypospadias; exome sequencing; genital malformation

Outcome Measures

Primary Outcomes (1)

• number of new genetic variants

  exome sequencing

  1 day

Study Arms (1)

Hypospadias

OTHER

Familial hypospadias trios (patients + parents)

Genetic: Exome sequencing

Interventions

Exome sequencing GENETIC

Plain DNA sequencing

Hypospadias

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Hypospadiac patients with a familial history of hypospadias

You may not qualify if:

• Hypospadiac patients without a family history of hypospadias
• Hypospadiac patients with a family history of hypospadias where etiology is identified

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (1)

Hôpital Lapeyronie

Montpellier, 34295, France

Location

MeSH Terms

Conditions

Hypospadias

Interventions

Exome Sequencing

Condition Hierarchy (Ancestors)

Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Penile Diseases; Genital Diseases, Male; Genital Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Whole Genome Sequencing; Sequence Analysis, DNA; Sequence Analysis; Genetic Techniques; Investigative Techniques

Study Officials

• Nicolas Kalfa, MD, PhD

  UH Montpellier

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 15, 2015
• First Posted: July 13, 2015
• Study Start: November 13, 2014
• Primary Completion: November 12, 2015
• Study Completion: April 24, 2024
• Last Updated: September 25, 2025

Record last verified: 2025-09

Locations

FR (1)