Kabuki Syndrome Clinical Trial
Official title:
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.
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.
;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
NCT01314534 -
French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH
|
N/A | |
| Recruiting |
NCT01793168 -
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
|
||
| Active, not recruiting |
NCT04722315 -
Study of Modified Atkins Diet in Kabuki Syndrome
|
Early Phase 1 |