Identifying New Genetic Causes to Development Disorders

NCT ID: NCT03283852

Last Updated: 2024-06-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

1100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-02-21

Study Completion Date

2027-02-21

Brief Summary

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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.

Detailed Description

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Conditions

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Disorders of Sex Development Growth Disorders Puberty Disorders

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Interventions

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blood sample

search for genetic mutations

Intervention Type GENETIC

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Fondation Ophtalmologique Adolphe de Rothschild

NETWORK

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Raja Brauner, PU-PH

Role: PRINCIPAL_INVESTIGATOR

Hôpital Fondation A. de Rothschild

Locations

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Hôpital Fondation A de Rothschild

Paris, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Amélie YAVCHITZ, MD, PHD

Role: CONTACT

01 48 03 64 54

Facility Contacts

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Amélie YAVCHITZ, M.D.

Role: primary

01 48 03 64 54

Other Identifiers

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RBR_2016_16

Identifier Type: -

Identifier Source: org_study_id

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