Identifying New Genetic Causes to Development Disorders | NCT03283852

Studies
Identifying New Genetic Causes to Development Disorders

NCT03283852

Sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Status

Recruiting

Last Update Posted

Jun 5, 2024Actual

Enrollment

1,100Estimated

Phase

Not provided

Conditions

Disorders of Sex Development
Growth Disorders
Puberty Disorders

Interventions

blood sample

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jun 2024

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Feb 21, 2017Actual

Primary Completion Date

Feb 21, 2027Estimated

Completion Date

Feb 21, 2027Estimated

First Submitted Date

Sep 13, 2017

First Submission Date that Met QC Criteria

Sep 13, 2017

First Posted Date

Sep 14, 2017Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 4, 2024

Last Update Posted Date

Jun 5, 2024Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Not provided

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

1,100Estimated

Name	Type	Description	Arm Group Labels	Other Names
blood sample	Genetic	search for genetic mutations

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
mutation research	frequency of genetic mutation	baseline

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

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

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Amélie YAVCHITZ, MD, PHD	Contact	01 48 03 64 54		ayavchitz@for.paris

Overall Officials

Name	Affiliation	Role
Raja Brauner, PU-PH	Hôpital Fondation A. de Rothschild	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Hôpital Fondation A de Rothschild	Recruiting	Paris		75019	France

Condition Browse Module

MeSH Terms

ID	Term
D012734	Disorders of Sex Development
D006130	Growth Disorders

Ancestor Terms

ID	Term
D014564	Urogenital Abnormalities
D052776	Female Urogenital Diseases
D005261	Female Urogenital Diseases and Pregnancy Complications
D000091642	Urogenital Diseases

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D001800	Blood Specimen Collection

Ancestor Terms

ID	Term
D013048	Specimen Handling
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis

Browse Leaves

Not provided

Browse Branches

Not provided