Recruiting NCT03283852
Identifying New Genetic Causes to Development Disorders
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: blood sample.
- Who it may be relevant to
- Registry conditions: Disorders of Sex Development, Growth Disorders, Puberty Disorders. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Identifying New Genetic Causes to the Disorders of Growth, Puberty and Sex Development
Overview
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.
Interventions
- Genetic blood sample
search for genetic mutations
Primary outcome measures
- mutation research [Time frame: baseline]
Eligibility 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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- Hôpital Fondation A de Rothschild — Paris
Identifiers
NCT: NCT03283852 · RBR_2016_16