NCT03283852

Brief 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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1,100

participants targeted

Target at P75+ for all trials

Timeline
10mo left

Started Feb 2017

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress92%
Feb 2017Feb 2027

Study Start

First participant enrolled

February 21, 2017

Completed
7 months until next milestone

First Submitted

Initial submission to the registry

September 13, 2017

Completed
1 day until next milestone

First Posted

Study publicly available on registry

September 14, 2017

Completed
9.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 21, 2027

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 21, 2027

Last Updated

June 5, 2024

Status Verified

June 1, 2024

Enrollment Period

10 years

First QC Date

September 13, 2017

Last Update Submit

June 4, 2024

Conditions

Disorders of Sex DevelopmentGrowth DisordersPuberty Disorders

Outcome Measures

Primary Outcomes (1)

  • mutation research

    frequency of genetic mutation

    baseline

Interventions

blood sampleGENETIC

search for genetic mutations

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

  • 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

You may not qualify if:

  • environmental or auto-immune cause

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hôpital Fondation A de Rothschild

Paris, 75019, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

•Samples With DNA: serum

MeSH Terms

Conditions

Disorders of Sex DevelopmentGrowth Disorders

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Urogenital AbnormalitiesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGonadal DisordersEndocrine System DiseasesPathologic ProcessesPathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Study Officials

  • Raja Brauner, PU-PH

    Hôpital Fondation A. de Rothschild

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Amélie YAVCHITZ, MD, PHD

CONTACT

01 48 03 64 54ayavchitz@for.paris

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
CROSS SECTIONAL
Sponsor Type
NETWORK
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 13, 2017

First Posted

September 14, 2017

Study Start

February 21, 2017

Primary Completion (Estimated)

February 21, 2027

Study Completion (Estimated)

February 21, 2027

Last Updated

June 5, 2024

Record last verified: 2024-06

Locations

FR(1)