Identifying New Genetic Causes to Development Disorders

Recruiting

• Conditions: Puberty Disorders; Disorders of Sex Development; Growth Disorders

• Registration Number: NCT03283852
• Lead Sponsor: Fondation Ophtalmologique Adolphe de Rothschild

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2017-02-21
• Study First Submitted: 2017-09-13
• Study First Submitted QC: 2017-09-13
• Study First Posted: 2017-09-14
• Status Verified: 2024-06
• Last Update Submitted: 2024-06-04
• Last Update Posted: 2024-06-05
• Primary Completion: 2027-02-21
• Study Completion: 2027-02-21

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1100

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
mutation research	baseline	frequency of genetic mutation

Trial Locations

Locations (1)

Hôpital Fondation A de Rothschild; 🇫🇷 Paris, France