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

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ClinicalTrials.gov Identifier: NCT03810859
Recruitment Status : Recruiting
First Posted : January 21, 2019
Last Update Posted : April 16, 2019
Sponsor:
Collaborators:
OSCAR
Foundation Maladie Rare
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Tracking Information
First Submitted Date  ICMJE January 17, 2019
First Posted Date  ICMJE January 21, 2019
Last Update Posted Date April 16, 2019
Estimated Study Start Date  ICMJE April 2019
Estimated Primary Completion Date February 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: January 17, 2019)
Genome sequencing [ Time Frame: After one day ]
Pathogenic variants identification and qualification
Original Primary Outcome Measures  ICMJE Same as current
Change History Complete list of historical versions of study NCT03810859 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures  ICMJE Not Provided
Original Secondary Outcome Measures  ICMJE Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants
Official Title  ICMJE Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants
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
Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Condition  ICMJE
  • Amelogenesis Imperfecta
  • Dentinogenesis Imperfecta
  • Dentin Anomalies
Intervention  ICMJE Biological: Blood sample
Adults : 7 to 10 mL Childs : 2 to 4 mL
Study Arms  ICMJE Experimental: All patients
Blood sample
Intervention: Biological: Blood sample
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Recruiting
Estimated Enrollment  ICMJE
 (submitted: January 17, 2019)
60
Original Estimated Enrollment  ICMJE Same as current
Estimated Study Completion Date  ICMJE July 2020
Estimated Primary Completion Date February 2020   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE 4 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE
Contact: Céline GAUCHER, MD (33)1 58 41 12 17 celine.gaucher@parisdescartes.fr
Contact: Caroline TOURTE (33)1 58 41 11 90 caroline.tourte@aphp.fr
Listed Location Countries  ICMJE France
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT03810859
Other Study ID Numbers  ICMJE K180404J
2018-A01250-55 ( Other Identifier: ID-RCB )
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement  ICMJE
Plan to Share IPD: No
Responsible Party Assistance Publique - Hôpitaux de Paris
Study Sponsor  ICMJE Assistance Publique - Hôpitaux de Paris
Collaborators  ICMJE
  • OSCAR
  • Foundation Maladie Rare
Investigators  ICMJE
Principal Investigator: Céline GAUCHER, MD APHP
PRS Account Assistance Publique - Hôpitaux de Paris
Verification Date April 2019

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP