Identifying New Genetic Causes to Development Disorders

Disorders of growth, puberty and sex development can have genetic causes. The exome analysis could detect new mutations responsible for these disorders and the frequency of these mutations in these disorders, their association with other malformations.

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Key information

Conditions

Disorders of Sex Development Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Gonadal Disorders Growth Disorders Male Urogenital Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Puberty Disorders Urogenital Abnormalities Urogenital Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Hôpital Fondation A de Rothschild

Paris, 75019, France

Location status: Recruiting

Location contact

Amélie YAVCHITZ, M.D.

CONTACT

[email protected]

01 48 03 64 54

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

blood sample

Genetic

search for genetic mutations

Primary outcomes

mutation research

Time frame: baseline

frequency of genetic mutation

Study contacts

Contact information is provided by the study sponsor or research team.

Amélie YAVCHITZ, MD, PHD

CONTACT

[email protected]

01 48 03 64 54

Sponsors and collaborators

Lead sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Network

Registry information

Official study title

Identifying New Genetic Causes to the Disorders of Growth, Puberty and Sex Development

Acronym: FORDEV

Important dates

Study start: 2017
Primary completion: 2027
Study completion: 2027
First posted: Sep 14, 2017
Registry last updated: Jun 5, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting