NCT01314534

Brief Summary

Create a census for the duration of the search for French patients with SK

  • determining epidemiological and morphological parameters,
  • determine the true frequency of clinical symptoms and identify new ones,
  • identify complications of the disease to improve the care of patients in the hope of a better prognosis of the disease and
  • performing a radiological study by Voxel based morphometry MRI type (N. BODDAERT, HOPITAL Necker-Enfants Malades, Paris) Perform genetic research to identify the genetic bases of SK using CGH-array (Comparative Genomic Hybridization )

Trial Health

87
On Track

Trial Health Score

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

Enrollment
110

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Sep 2008

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

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

September 1, 2008

Completed
2.5 years until next milestone

First Submitted

Initial submission to the registry

March 11, 2011

Completed
3 days until next milestone

First Posted

Study publicly available on registry

March 14, 2011

Completed
4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 1, 2015

Completed
6 months until next milestone

Study Completion

Last participant's last visit for all outcomes

September 1, 2015

Completed
Last Updated

November 20, 2017

Status Verified

November 1, 2017

Enrollment Period

6.5 years

First QC Date

March 11, 2011

Last Update Submit

November 17, 2017

Conditions

Kabuki Syndrome

Keywords

Kabuki syndromeGeneticCGH-array

Outcome Measures

Primary Outcomes (1)

  • Determining epidemiological and morphological parameters

    * determining epidemiological and morphological parameters, * determine the true frequency of clinical symptoms and identify new ones, * identify complications of the disease to improve the care of patients in the hope of a better prognosis of the disease * performing a radiological study by Voxel based morphometry MRI type

    2 YEARS

Secondary Outcomes (1)

  • Perform genetic research to identify the genetic bases of SK using CGH-array

    2 YEARS

Eligibility Criteria

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

Cross-sectional multicenter exploratory and observational study

You may qualify if:

  • diagnosis based on the decision of National Network of Geneticists
  • signed informed consent by the 2 parents
  • signed informed consent by the 2 parents to participate to molecular study

You may not qualify if:

  • absence of social insurance
  • refusal of the patient and /or parents to participate in the study

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Department of Genetic, Necker Hospital

Paris, 75015, France

Location

MeSH Terms

Conditions

Kabuki syndrome

Study Officials

  • Stanislas LYONNET, PU-PH

    Assistance Publique - Hôpitaux de Paris

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 11, 2011

First Posted

March 14, 2011

Study Start

September 1, 2008

Primary Completion

March 1, 2015

Study Completion

September 1, 2015

Last Updated

November 20, 2017

Record last verified: 2017-11

Locations

FR(1)