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French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH (Kabuki)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT01314534
Recruitment Status : Completed
First Posted : March 14, 2011
Last Update Posted : November 20, 2017
Sponsor:
Information provided by (Responsible Party):

Study Description
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 )


Condition or disease
Kabuki Syndrome

  Show Detailed Description

Study Design

Study Type : Observational
Actual Enrollment : 110 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH
Study Start Date : September 2008
Primary Completion Date : March 2015
Study Completion Date : September 2015

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Groups and Cohorts


Outcome Measures

Primary Outcome Measures :
  1. Determining epidemiological and morphological parameters [ Time Frame: 2 YEARS ]
    • 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


Secondary Outcome Measures :
  1. Perform genetic research to identify the genetic bases of SK using CGH-array [ Time Frame: 2 YEARS ]

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Cross-sectional multicenter exploratory and observational study
Criteria

Inclusion criteria :

  • 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

Exclusion criteria :

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01314534


Locations
France
Department of Genetic, Necker Hospital
Paris, France, 75015
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Stanislas LYONNET, PU-PH Assistance Publique - Hôpitaux de Paris
More Information

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT01314534     History of Changes
Other Study ID Numbers: AOM 07-090 / P070130
IDRCB 2007-A00912-51 ( Other Identifier: AFSSAPS )
First Posted: March 14, 2011    Key Record Dates
Last Update Posted: November 20, 2017
Last Verified: November 2017

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Kabuki syndrome
Genetic
CGH-array

Additional relevant MeSH terms:
Syndrome
Abnormalities, Multiple
Hematologic Diseases
Vestibular Diseases
Disease
Pathologic Processes
Congenital Abnormalities
Labyrinth Diseases
Ear Diseases
Otorhinolaryngologic Diseases