FORDEV: Identifying New Genetic Causes to Development Disorders
Sponsor
Fondation Ophtalmologique Adolphe de Rothschild (Other)
Overall Status
Recruiting
CT.gov ID
NCT03283852
Collaborator
(none)
1,100
1
120
9.2
Study Details
Study Description
Brief 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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
Study Design
Study Type:
Observational
Anticipated Enrollment
:
1100 participants
Observational Model:
Cohort
Time Perspective:
Cross-Sectional
Official Title:
Identifying New Genetic Causes to the Disorders of Growth, Puberty and Sex Development
Actual Study Start Date
:
Feb 21, 2017
Anticipated Primary Completion Date
:
Feb 21, 2027
Anticipated Study Completion Date
:
Feb 21, 2027
Outcome Measures
Primary Outcome Measures
- mutation research [baseline]
frequency of genetic mutation
Eligibility Criteria
Criteria
Ages Eligible for Study:
N/A
and Older
Sexes Eligible for Study:
All
Accepts Healthy Volunteers:
No
Inclusion Criteria:
-
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
Exclusion Criteria:
- environmental or auto-immune cause
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Hôpital Fondation A de Rothschild | Paris | France | 75019 |
Sponsors and Collaborators
- Fondation Ophtalmologique Adolphe de Rothschild
Investigators
- Principal Investigator: Raja Brauner, PU-PH, Hôpital Fondation A. de Rothschild
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.Responsible Party:
Fondation Ophtalmologique Adolphe de Rothschild
ClinicalTrials.gov Identifier:
NCT03283852
Other Study ID Numbers:
- RBR_2016_16
First Posted:
Sep 14, 2017
Last Update Posted:
Jan 27, 2022
Last Verified:
Jan 1, 2022
Studies a U.S. FDA-regulated Drug Product:
No
Studies a U.S. FDA-regulated Device Product:
No
Additional relevant MeSH terms: