Trial record 1 of 2 for:    "Kabuki syndrome"
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French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH

This study is currently recruiting participants. (see Contacts and Locations)
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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:
Syndrome
Abnormalities, Multiple
Hematologic Diseases
Vestibular Diseases
Disease
Pathologic Processes
Congenital Abnormalities
Labyrinth Diseases
Ear Diseases
Otorhinolaryngologic Diseases

ClinicalTrials.gov processed this record on September 18, 2014