Assessment of Memory in Children With Kabuki Syndrom (MEM-K)

November 30, 2018 updated by: University Hospital, Montpellier

Study on the Mnemic Functioning of Children With Kabuki Syndrome

Mnesic function has not, at present, been evaluated in patients with Kabuki Syndrome. Some data from the neuroimagery suggest an impairment of memory function. The objective of our study is to assess the mnesic function of children with Kabuki Syndrom.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

Kabuki Syndrome (SK - OMIM 147920 and 300867 ORPHA: 2322) is a rare genetic disease with a prevalence of approximately 1/32 000 and responsible for a malformation syndrome with mild to moderate intellectual impairment. SK is due to mutations in the KMT2D and KDM6A genes. As part of a national PHRC (AOM 07-090, clinicaltrial NCT01314534, The investigators were able to perform psychometric tests type WISC4 and MRI type VBM). Disability in SK is characterized by a heterogeneous cognitive profile with strengths and weaknesses when calculating IQ. Brain MRI reveals small hippocampi compared to controls. These 2 data are partly contradictory because the strengths of the patients with SK are a working memory and a verbal comprehension index high compared to the other indices of the tests WISC-IV.

The objective of the research is to better understand the mnesic function of children with SK.

25 children aged 6 to 16 will be recruited. The diagnosis of SK will have been authenticated by the demonstration of a mutation in the KMT2D or KDM6A gene.

The memory assessments will be conducted in one visit for each child, who will perform a memory assessment with a neuropsychologist, using the CMS scale.

Study Type

Interventional

Enrollment (Actual)

25

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
    • Herault
      • Montpellier, Herault, France, 34295
        • Genetic Departement, rare disease, personalized medicine

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

6 years to 16 years (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • Child from 6 to 16 years old
  • Presents an already established diagnosis of Kabuki syndrome.
  • Free, informed and written consent signed by the participant's parents, and the investigator (at the latest inclusion day and before any research required by the research).

Exclusion Criteria:

  • Be under 6 years old or over 16 years old
  • Do not master the French language
  • Not having access to language
  • Deafness not paired
  • Blindness.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Other
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
CMS (selective motor control scale) main score
Time Frame: 1 hour
CMS main score
1 hour

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
CMS (selective motor control scale) indexes
Time Frame: 1 hour
CMS indexes
1 hour

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Montpellier

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 8, 2018

Primary Completion (Actual)

September 7, 2018

Study Completion (Actual)

September 7, 2018

Study Registration Dates

First Submitted

May 23, 2018

First Submitted That Met QC Criteria

May 23, 2018

First Posted (Actual)

June 6, 2018

Study Record Updates

Last Update Posted (Actual)

December 3, 2018

Last Update Submitted That Met QC Criteria

November 30, 2018

Last Verified

May 1, 2018

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 5005

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Undecided

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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