Non-syndromic Inherited Anomalies of Mineralized Tooth Ti... | NCT03810859

Studies
Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants

NCT03810859

Sponsor

Assistance Publique - Hôpitaux de Paris

Status

Unknown status

Last Update Posted

Nov 22, 2021Actual

Enrollment

14Actual

Phase

Not Applicable

Conditions

Amelogenesis Imperfecta
Dentinogenesis Imperfecta
Dentin Anomalies

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

ID	Type	Description	Link
2018-A01250-55	Other Identifier	ID-RCB

Status Module

Record Verification Date

Nov 2021

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Active, not recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 9, 2019Actual

Primary Completion Date

Sep 15, 2022Estimated

Completion Date

Sep 15, 2022Estimated

First Submitted Date

Jan 17, 2019

First Submission Date that Met QC Criteria

Jan 17, 2019

First Posted Date

Jan 22, 2019Actual

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

Nov 19, 2021

Last Update Posted Date

Nov 22, 2021Actual

Name	Class
French rare diseases Healthcare Network	UNKNOWN
The French Foundation for Rare Diseases	UNKNOWN

Oversight Module

Has Data Monitoring Committee (DMC)

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

ExoDent specifically aims to discover new genes and new mutations causing isolated amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) and other dentin anomalies. The key point for clinicians is to distinguish between non syndromic and syndromic disorders in order to improve patients guidance and counseling. To do so, two targeted NGS panel have been designed, one searching for isolated AI and the other for DI. After 18 months, some families remain without any positive results. ExoDent project proposes those negative patients a Whole Exome Sequencing (WES) approach to deeper explore their genetic background.

Detailed Description

Not provided

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

14Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
All patients	Experimental	Blood sample	Biological: Blood sample

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Blood sample	Biological	Adults : 7 to 10 mL Childs : 2 to 4 mL	All patients

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Genome sequencing	Pathogenic variants identification and qualification	After one day

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

clinical diagnosis of amelogenesis imperfecta or dentinogenesis imerfecta or other dentin anomaly with no other signs or symptoms ( familial or isolated)
negative results after targeted NGS strategy for molecular diagnosis

Exclusion Criteria:

absence of positive clinical diagnosis
Diagnosis of syndromic disease

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

4 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Céline GAUCHER, MD	APHP	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Hospital Cochin		Paris		75014	France

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D000567	Amelogenesis Imperfecta
D003811	Dentinogenesis Imperfecta

Ancestor Terms

ID	Term
D000094602	Developmental Defects of Enamel
D014071	Tooth Abnormalities
D018640	Stomatognathic System Abnormalities
D009057	Stomatognathic 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