NCT00213889

Brief Summary

This study uses a sequence analysis for TWIST and other craniofacial development genes, among patients presenting with facial clefting.

Trial Health

57
Monitor

Trial Health Score

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

Enrollment
45

participants targeted

Target at P25-P50 for not_applicable

Timeline
Completed

Started Feb 2003

Longer than P75 for not_applicable

Geographic Reach
1 country

4 active sites

Status
terminated

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 Start

First participant enrolled

February 1, 2003

Completed
2.6 years until next milestone

First Submitted

Initial submission to the registry

September 13, 2005

Completed
8 days until next milestone

First Posted

Study publicly available on registry

September 21, 2005

Completed
2.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2008

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2008

Completed
Last Updated

March 27, 2015

Status Verified

March 1, 2015

Enrollment Period

5.4 years

First QC Date

September 13, 2005

Last Update Submit

March 26, 2015

Conditions

Cleft Lip

Keywords

Facial cleftingtwistcraniofacial development genesHuman cleft lip and palatecleft lip and palate

Outcome Measures

Primary Outcomes (1)

  • to show, among patients displaying facial clefting, the TWIST mutations and the mutation in genes involved with TWIST in craniofacial development

    Not relevant

Secondary Outcomes (1)

  • to show, among patients displaying facial clefting and mutations in such genes, possible mutations in the same genes

    Not relevant

Interventions

None: molecular genetics diagnosis procedure onlyOTHER

None: molecular genetics diagnosis procedure only

Eligibility Criteria

Age1 Month+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • Patients aged from 1 month to 18 years:
  • Parents agree to enrollment or patients, themselves, agree to enrollment when able to do so
  • Healthcare insurance holders
  • Display facial clefting
  • Grown patients over 18 years of age:
  • Agree to enrollment
  • Display facial clefting
  • Healthcare insurance holders

You may not qualify if:

  • Patients declining enrollment
  • Patients without healthcare insurance

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (4)

Centre d'Investigations Cliniques, Hôpital Civil, Hôpitaux Universitaires de Strasbourg

Strasbourg, 67091, France

Location

Centre de Soins , d'Enseignement et de Recherche Dentaire (CESRD), Hôpital Civil, Hôpitaux Universitaires de Strasbourg

Strasbourg, 67091, France

Location

Service de Chirurgie Infantile, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg

Strasbourg, 67098, France

Location

Service de Consultation de la Face, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg

Strasbourg, 67098, France

Location

MeSH Terms

Conditions

Cleft LipAcrocephalosyndactylia

Condition Hierarchy (Ancestors)

Lip DiseasesMouth DiseasesStomatognathic DiseasesMouth AbnormalitiesStomatognathic System AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCraniosynostosesSynostosisDysostosesBone Diseases, DevelopmentalBone DiseasesMusculoskeletal DiseasesSyndactylyCraniofacial AbnormalitiesMusculoskeletal AbnormalitiesLimb Deformities, Congenital

Study Officials

  • Pascal TSCHILL, MD

    Laboratoire de Génétique Molécules des Eucaryotes (LGME)

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 13, 2005

First Posted

September 21, 2005

Study Start

February 1, 2003

Primary Completion

July 1, 2008

Study Completion

July 1, 2008

Last Updated

March 27, 2015

Record last verified: 2015-03

Locations

FR(4)