Clinical trial NCT03547609: Assessment of Memory in Children With Kabuki Syndrom
Official title: Study on the Mnemic Functioning of Children With Kabuki Syndrome
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Kabuki Syndrome
Keywords: Kabuki Syndrome
Intellectual Profile
Memory
Lead sponsor: University Hospital, Montpellier
Sponsor class: OTHER
First posted: 2018-06-06
Enrollment: 25
Sex: ALL
Minimum age (years): 6
Maximum age (years): 16
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: OTHER

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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: CMS (selective motor control scale) main score
timeFrame: 1 hour
Secondary outcomes:
measure: CMS (selective motor control scale) indexes
timeFrame: 1 hour
Other outcomes:
Locations:
city: Montpellier
country: France
facility: Genetic Departement, rare disease, personalized medicine
state: Herault
Study officials:
References:
citation: 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.