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

This study is currently recruiting participants.
Verified February 2011 by Assistance Publique - Hôpitaux de Paris
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT01314534
First received: March 11, 2011
Last updated: September 21, 2011
Last verified: February 2011
  Purpose

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
Kabuki Syndrome

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH

Resource links provided by NLM:


Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • Determining epidemiological and morphological parameters [ Time Frame: 2 YEARS ] [ Designated as safety issue: No ]
    • 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:
  • Perform genetic research to identify the genetic bases of SK using CGH-array [ Time Frame: 2 YEARS ] [ Designated as safety issue: No ]

Estimated Enrollment: 110
Study Start Date: September 2008
Estimated Study Completion Date: September 2015
Estimated Primary Completion Date: September 2013 (Final data collection date for primary outcome measure)
  Show Detailed Description

  Eligibility

Genders Eligible for Study:   Both
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
Please refer to this study by its ClinicalTrials.gov identifier: NCT01314534

Locations
France
Department of Genetic, Necker Hospital Recruiting
Paris, France, 75015
Contact: David GENEVIEVE, MCU PH       d-genevieve@chu-montpellier.fr   
Contact: Kim-Hanh LE QUAN SANG, MCU PH       kh.lequansang@nck.aphp.fr   
Sub-Investigator: DAVID GENEVIEVE, MCU-PH         
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Stanislas LYONNET, PU-PH Assistance Publique - Hôpitaux de Paris
  More Information

No publications provided

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
Study First Received: March 11, 2011
Last Updated: September 21, 2011
Health Authority: France: Ministry of Health

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

Additional relevant MeSH terms:
Abnormalities, Multiple
Hematologic Diseases
Vestibular Diseases
Congenital Abnormalities
Labyrinth Diseases
Ear Diseases
Otorhinolaryngologic Diseases

ClinicalTrials.gov processed this record on April 17, 2014