Actively Recruiting

All Genders
ID03283852

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

All Genders

Eligibility Criteria

Eligible

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
Not Eligible

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

1
2
3
+1

Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Diagnostic Evaluation

Duration - 1 day

Participants provide blood samples to search for genetic mutations related to growth, puberty, and sex development disorders.

1 visit (in-person)

Long-term Monitoring

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

Loading map...

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

Similar Trials

GROWing Up With Rare GENEtic Syndromes When Children With Co...

Prader-Willi Syndrome

Actively Recruiting

1 location

Frequently Asked Questions

Have more questions? Get in touch with our team for quick support

Not the Right Trial for You?

Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.

Already have an account? Log in here