Assessment of Memory in Children With Kabuki Syndrom

Kabuki Syndrome Clinical Trial

— MEM-K  

Official title:

Study on the Mnemic Functioning of Children With Kabuki Syndrome

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03547609
• Other study ID #: 5005
• Status: Completed
• Phase: N/A
• Start date: June 8, 2018
• Est. completion date: September 7, 2018

Study information

• Verified date: May 2018
• Source: University Hospital, Montpellier
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 25
• Est. completion date: September 7, 2018
• Est. primary completion date: September 7, 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: 6 Years to 16 Years

Eligibility

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.

Related Conditions & MeSH terms

• Abnormalities, Multiple
• Hematologic Diseases
• Kabuki Syndrome
• Syndrome
• Vestibular Diseases

Intervention

Other:
• No arm intervention
No arm intervention

Locations

Country	Name	City	State
France	Genetic Departement, rare disease, personalized medicine	Montpellier	Herault

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Montpellier

Country where clinical trial is conducted

France, 

References & 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, To — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	CMS (selective motor control scale) main score	CMS main score	1 hour
Secondary	CMS (selective motor control scale) indexes	CMS indexes	1 hour