Identifying genetic causes of growth and puberty disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to identify new genetic mutations associated with disorders of growth, puberty, and sex development through exome analysis. By analyzing blood samples from patients with specific conditions, the study seeks to uncover the frequency of these mutations and their potential links to other malformations. The findings could enhance understanding of the genetic underpinnings of these disorders and inform future treatment strategies.

Why it matters

Who can join: the full rules

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

Where it's running

• Hôpital Fondation A de Rothschild
  Paris, France Recruiting

Study contacts

• Principal investigator: Raja Brauner, PU-PH — Hôpital Fondation A. de Rothschild
• Study coordinator: Amélie YAVCHITZ, MD, PHD
• Email: ayavchitz@for.paris
• Phone: 01 48 03 64 54

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.