Disorders of Sex DevelopmentFORDEVNCT03283852
Identifying New Genetic Causes to Development Disorders
An observational study of Disorders of Sex Development and Growth Disorders, run by Fondation Ophtalmologique Adolphe de Rothschild at 1 site in France.
Trial summary
Disorders of growth, puberty and sex development can have genetic causes. The exome analysis could detect new mutations responsible for these disorders and the frequency of these mutations in these disorders, their association with other malformations. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Disorders of Sex Development, Growth Disorders, Puberty Disorders
- What is being tested?
- blood sample
- How many people
- 1,100 participants
- Where
- 1 siteFrance
- Study dates
- 21 Feb 2017to 21 Feb 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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
Study population: Patients with disorders of growth, puberty and sex development and related subjects.
Who may be able to join
- congenital growth hormone deficiency
- puberty disorder
- gonadal dysgenesis or anorchia
- primary ovarian failure
- disorder of sex development
- subjects related to a patient with one of the above criteria
Who cannot join
- environmental or auto-immune cause
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Hôpital Fondation A de Rothschild
Paris, 75019
Amélie YAVCHITZ, M.D., 01 48 03 64 54, ayavchitz@for.paris
About this study
Official title: Identifying New Genetic Causes to the Disorders of Growth, Puberty and Sex Development
Disorders of growth, puberty and sex development can have genetic causes. The exome analysis could detect new mutations responsible for these disorders and the frequency of these mutations in these disorders, their association with other malformations.
- Being tested
- blood sample
- Medical subject headings
- Disorders of Sex Development, Growth Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood sampleGenetic
search for genetic mutations
What is being measured
The primary outcome is the main question the study is designed to answer.
mutation research
frequency of genetic mutation
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Sep 2017
- Study start21 Feb 2017
- Primary completion21 Feb 2027 (estimated)
- Study completion21 Feb 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Disorders of Sex DevelopmentStudies of the same condition, open and under way.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 1,100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
- Sponsor type
- Research network
- Responsible party
- Sponsor
- Investigators
- Raja Brauner, PU-PH, Principal investigator, Hôpital Fondation A. de Rothschild
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03283852
- Sponsor's protocol ID
- RBR_2016_16
- Acronym
- FORDEV
- Status last verified
- Jun 2024
- First submitted
- 13 Sep 2017
- Last updated
- 5 Jun 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Jun 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identifying New Genetic Causes to the Disorders of Growth, Puberty and Sex Development
- ClinicalTrials.gov ID
- NCT03283852
- Acronym / sponsor ID
- FORDEV / RBR_2016_16
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,100 participants (estimated)
- Lead sponsor
- Fondation Ophtalmologique Adolphe de RothschildResearch network
- Study start
- 21 Feb 2017 (actual)
- Primary completion
- 21 Feb 2027 (estimated)
- Study completion
- 21 Feb 2027 (estimated)
- First posted
- 14 Sep 2017 (actual)
- 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.
Disorders of growth, puberty and sex development can have genetic causes. The exome analysis could detect new mutations responsible for these disorders and the frequency of these mutations in these disorders, their association with other malformations.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with disorders of growth, puberty and sex development and related subjects.
Key inclusion criteria (6 listed)
- congenital growth hormone deficiency
- puberty disorder
- gonadal dysgenesis or anorchia
- primary ovarian failure
- disorder of sex development
Key exclusion criteria (1 listed)
- environmental or auto-immune cause
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 |
|---|---|---|
| blood samplesearch for genetic mutations | Genetic | – |
Primary outcome
mutation research
Time frame: baseline
frequency of genetic mutation
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Jun 2024.
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Enrolling by invitation
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Disorders of Sex Development, 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.
Raja Brauner, PU-PH principal investigator
Hôpital Fondation A. de Rothschild
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Disorders of Sex Development and Growth Disorders, run by Fondation Ophtalmologique Adolphe de Rothschild 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 6 inclusion and 1 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: looking for participants now, as of the sponsor's last update on 5 Jun 2024. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Amélie YAVCHITZ, MD, PHD (01 48 03 64 54, ayavchitz@for.paris), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
mutation research (time frame: baseline). 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 5 Jun 2024; AzTrials last refreshed its copy on 29 Oct 2026.