Identifying genetic causes of growth and puberty disorders
Identifying New Genetic Causes to the Disorders of Growth, Puberty and Sex Development
This study is trying to find new genetic changes that might cause growth and puberty disorders by looking at blood samples from patients with these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1100 (estimated) |
| Sex | All |
| Sponsor | Fondation Ophtalmologique Adolphe de Rothschild Research network |
| Locations | 1 site (Paris) |
| Trial ID | NCT03283852 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals with congenital growth hormone deficiency, puberty disorders, gonadal dysgenesis, anorchia, primary ovarian failure, or disorders of sex development.
Not a fit: Patients with disorders caused by environmental or autoimmune factors may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and management of genetic disorders affecting growth and puberty.
How similar studies have performed: Other studies have successfully identified genetic causes of similar disorders, suggesting a promising approach for this investigation.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Paris
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.