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RecruitingNCT03283852FORDEVUpdated Jun 5, 2024

Identifying New Genetic Causes to Development Disorders

An observational study in Disorders of Sex Development, Growth Disorders and Puberty Disorders, sponsored by Fondation Ophtalmologique Adolphe de Rothschild. Recruiting at 1 site in France. Per ClinicalTrials.gov, last updated 2024-06-05.

Sponsored by Fondation Ophtalmologique Adolphe de Rothschild · Observational

Study type
Observational
Model
Cohort
Time perspective
Cross-sectional
Enrollment
1,100
Sex
All
01

Study summary

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.

02

Conditions studied

  • Disorders of Sex Development
  • Growth Disorders
  • Puberty Disorders
03

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Patients with disorders of growth, puberty and sex development and related subjects.

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

Exclusion Criteria:

  • environmental or auto-immune cause
04

Study design

Observational model
Cohort
Time perspective
Cross-sectional
Enrollment
1,100 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna

Interventions

  • Geneticblood sample

    search for genetic mutations

05

What researchers measure

Primary outcomes

  1. mutation research

    frequency of genetic mutation

    Time frame: baseline

06

Study locations

1 of 1 sites recruiting
  • Hôpital Fondation A de Rothschild
    Paris, 75019, France
    Recruiting
07

Registry details

Key details

Study ID
NCT03283852
Lead sponsor
Fondation Ophtalmologique Adolphe de Rothschild
Responsible party
Sponsor
First posted
Sep 14, 2017
Start date
Feb 21, 2017
Primary completion
Feb 21, 2027 (estimated)
Completion
Feb 21, 2027 (estimated)
Last update
Jun 5, 2024

Study contacts

Amélie YAVCHITZ, MD, PHD
Contact
ayavchitz@for.paris
01 48 03 64 54
Raja Brauner, PU-PH
principal investigator · Hôpital Fondation A. de Rothschild

Oversight

FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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