Clinical trial
Identifying New Genetic Causes to the Disorders of Growth, Puberty and Sex Development
Name
RBR_2016_16
Description
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.
Trial arms
Trial start
2017-02-21
Estimated PCD
2027-02-21
Trial end
2027-02-21
Status
Recruiting
Treatment
blood sample
search for genetic mutations
Size
1100
Primary endpoint
mutation research
baseline
Eligibility criteria
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
Protocol
{'studyType': 'OBSERVATIONAL', 'patientRegistry': False, 'designInfo': {'observationalModel': 'COHORT', 'timePerspective': 'CROSS_SECTIONAL'}, 'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': '•Samples With DNA: serum'}, 'enrollmentInfo': {'count': 1100, 'type': 'ESTIMATED'}}
Updated at
2024-06-05
1 organization
1 product
3 indications
Organization
Fondation Ophtalmologique Adolphe de RothschildProduct
Blood sampleIndication
Disorders of Sex DevelopmentIndication
Growth DisordersIndication
Puberty Disorders