HypospadiasNCT02495090
Hypospadias and Exome: Identification of New Genes for Familial Hypospadias
A study testing Exome sequencing in people with Hypospadias, run by University Hospital, Montpellier at 1 site in France.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Hypospadias
- What is being tested?
- Exome sequencing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 60 participants
- Where
- 1 siteFrance
- Study dates
- 13 Nov 2014to 24 Apr 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Hypospadiac patients with a familial history of hypospadias
Who cannot join
- Hypospadiac patients without a family history of hypospadias
- Hypospadiac patients with a family history of hypospadias where etiology is identified
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Conditions
- Hypospadias
- Being tested
- Exome sequencing
- Keywords
- Hypospadias, exome sequencing, genital malformation
- Medical subject headings
- Hypospadias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Exome sequencingGenetic
Plain DNA sequencing
| Study group | Role | What they receive |
|---|---|---|
| Hypospadias | Other | Familial hypospadias trios (patients + parents) Receives: Genetic: Exome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
number of new genetic variants
exome sequencing
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jul 2015 (estimated)
- Study start13 Nov 2014
- Primary completion12 Nov 2015
- Study completion24 Apr 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for HypospadiasStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 60 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Nicolas Kalfa, MD, PhD, Principal investigator, UH Montpellier
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02495090
- Sponsor's protocol ID
- 9477
- Other IDs
- 2014-A01425-42
- Status last verified
- Sep 2025
- First submitted
- 15 Jun 2015
- Last updated
- 25 Sep 2025
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 25 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Hypospadias and Exome: Identification of New Genes for Familial Hypospadias
- ClinicalTrials.gov ID
- NCT02495090
- Acronym / sponsor ID
- 9477
- Conditions
- Hypospadias
- Keywords
- Hypospadias, exome sequencing, genital malformation
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 60 participants (actual)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- 13 Nov 2014 (actual)
- Primary completion
- 12 Nov 2015 (actual)
- Study completion
- 24 Apr 2024 (actual)
- First posted
- 13 Jul 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Hypospadias | Other | Genetic: Exome sequencingFamilial hypospadias trios (patients + parents) |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- Hypospadiac patients with a familial history of hypospadias
Key exclusion criteria (2 listed)
- Hypospadiac patients without a family history of hypospadias
- Hypospadiac patients with a family history of hypospadias where etiology is identified
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Exome sequencingPlain DNA sequencing | Genetic | Hypospadias |
Primary outcome
number of new genetic variants
Time frame: 1 day
exome sequencing
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Sep 2025.
Related trials for Hypospadias
Not yet recruitingPhase 4
Effect of Oxybutynin on Opioid Use After Urologic Surgery in Children
Ureteropelvic Junction Obstruction, Hypospadias
Recruiting
Worldwide Yearly Screening for Hypospadias
Hypospadias
Not yet recruitingPhase 4
Emerging Indications for Hyperbaric Oxygen Treatment
Post-COVID-19 Condition, Ulcerative Colitis
Active, not recruiting
Evaluating the Efficacy and Safety of Tranexamic Acid in Reducing Perioperative Bleeding During Recurrent Hypospadias Repair.
Perioperative Bleeding During Recurrent Hypospadias Repair
Not yet recruiting
Efficacy of PRF in Hypospadias Repair
Hypospadias
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Nicolas Kalfa, MD, PhD principal investigator
UH Montpellier
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Exome sequencing in people with Hypospadias, run by University Hospital, Montpellier at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 25 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
number of new genetic variants (time frame: 1 day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 25 Sep 2025; AzTrials last refreshed its copy on 9 Nov 2026.