RecruitingNCT03283852

Identifying New Genetic Causes to Development Disorders

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


Sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Enrollment

1,100 participants

Start Date

Feb 21, 2017

Study Type

OBSERVATIONAL

Conditions

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.


Eligibility

Inclusion Criteria6

  • 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 Criteria1

  • environmental or auto-immune cause

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Interventions

GENETICblood sample

search for genetic mutations


Locations(1)

Hôpital Fondation A de Rothschild

Paris, France

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NCT03283852


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