Actively Recruiting
Identifying New Genetic Causes to the Disorders of Growth, Puberty and Sex Development
Led by Fondation Ophtalmologique Adolphe de Rothschild · Updated on 2024-06-05
1100
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying genetic causes behind disorders affecting growth, puberty, and sex development. The study aims to find new mutations responsible for these conditions, understand how often these mutations occur, and see their links with other malformations. This observational research may help improve knowledge about these complex developmental disorders. Participants provide blood samples, which are analyzed to search for genetic mutations related to their condition. This analysis focuses on identifying mutations at the baseline stage. There is no intervention or treatment given, as the study is observational and based on genetic testing. Participants will have their genetic material studied through blood samples. The main outcome measured is the detection of mutations at baseline. The research team tracks the presence and frequency of mutations linked to disorders of growth, puberty, and sex development. The study does not involve treatments or long-term follow-up, focusing on genetic mutation research only.
CONDITIONS
Brief Title
Identifying New Genetic Causes to Development Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Congenital growth hormone deficiency
- Puberty disorder
- Gonadal dysgenesis or anorchia
- Primary ovarian failure
- Disorder of sex development
- Being related to a patient with one of the above conditions
You will not qualify if you...
- Environmental or auto-immune cause
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 1 day
Participants provide blood samples to search for genetic mutations related to growth, puberty, and sex development disorders.
1 visit (in-person)
Duration - Up to approximately 5 years
Participants are observed over time to understand the genetic causes of their conditions.
Follow-up visits as needed
Trial Site Locations
Total: 1 location
1
Hôpital Fondation A de Rothschild
Paris, France, 75019
Actively Recruiting
Research Team
A
Amélie YAVCHITZ, MD, PHD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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