NCT03547609

Brief Summary

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.

Trial Health

87
On Track

Trial Health Score

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

Enrollment
25

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Jun 2018

Shorter than P25 for not_applicable

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

First Submitted

Initial submission to the registry

May 23, 2018

Completed
14 days until next milestone

First Posted

Study publicly available on registry

June 6, 2018

Completed
2 days until next milestone

Study Start

First participant enrolled

June 8, 2018

Completed
3 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 7, 2018

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

September 7, 2018

Completed
Last Updated

December 3, 2018

Status Verified

May 1, 2018

Enrollment Period

3 months

First QC Date

May 23, 2018

Last Update Submit

November 30, 2018

Conditions

Kabuki Syndrome

Keywords

Kabuki SyndromeIntellectual ProfileMemory

Outcome Measures

Primary Outcomes (1)

  • CMS (selective motor control scale) main score

    CMS main score

    1 hour

Secondary Outcomes (1)

  • CMS (selective motor control scale) indexes

    1 hour

Interventions

No arm interventionOTHER

No arm intervention

Eligibility Criteria

Age6 Years - 16 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17)

You may qualify if:

  • Child from 6 to 16 years old
  • Presents an already established diagnosis of Kabuki syndrome.

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Genetic Departement, rare disease, personalized medicine

Montpellier, Herault, 34295, France

Location

Related Publications (1)

  • Lehman N, Mazery AC, Visier A, Baumann C, Lachesnais D, Capri Y, Toutain A, Odent S, Mikaty M, Goizet C, Taupiac E, Jacquemont ML, Sanchez E, Schaefer E, Gatinois V, Faivre L, Minot D, Kayirangwa H, Sang KLQ, Boddaert N, Bayard S, Lacombe D, Moutton S, Touitou I, Rio M, Amiel J, Lyonnet S, Sanlaville D, Picot MC, Genevieve D. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. Clin Genet. 2017 Sep;92(3):298-305. doi: 10.1111/cge.13010. Epub 2017 May 18.

    PMID: 28295206RESULT

MeSH Terms

Conditions

Kabuki syndrome

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
OTHER
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 23, 2018

First Posted

June 6, 2018

Study Start

June 8, 2018

Primary Completion

September 7, 2018

Study Completion

September 7, 2018

Last Updated

December 3, 2018

Record last verified: 2018-05

Locations

FR(1)