Identifying New Genetic Causes to Development Disorders

Launched by FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD · Sep 13, 2017

Keywords

ClinConnect Summary

This clinical trial is looking to understand the genetic causes behind certain growth and development disorders, such as problems with puberty and sex development. Researchers will use a technique called exome analysis, which helps identify new genetic mutations that could be responsible for these issues. By participating, the trial aims to uncover how common these mutations are and whether they relate to other health problems.

If you or someone you know has conditions like congenital growth hormone deficiency, puberty disorders, or disorders of sex development, you might be eligible to join the study. Family members of patients with these conditions can also participate. The trial is currently recruiting participants of all ages and genders. Those who take part will help researchers learn more about these disorders, which could lead to better understanding and treatment options in the future.

Gender

ALL

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