Kabuki SyndromeMEM-KNCT03547609
Assessment of Memory in Children With Kabuki Syndrom
A study testing No arm intervention in people with Kabuki Syndrome, run by University Hospital, Montpellier at 1 site in France.
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. Read more about this study
- Who is it for?
- Ages 6 to 16 years
- Conditions the study is for
- Kabuki Syndrome
- What is being tested?
- No arm intervention
- How many people
- 25 participants
- Where
- 1 siteFrance
- Study dates
- 8 Jun 2018to 7 Sep 2018
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 to 16 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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).
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
France1 site
Genetic Departement, rare disease, personalized medicine
Montpellier, Herault, 34295
About this study
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.
Read the 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.
- Conditions
- Kabuki Syndrome
- Being tested
- No arm intervention
- Keywords
- Kabuki Syndrome, Intellectual Profile, Memory
- Medical subject headings
- Kabuki syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No arm interventionOther
No arm intervention
What is being measured
The primary outcome is the main question the study is designed to answer.
CMS (selective motor control scale) main score
CMS main score
Measured: 1 hour
Secondary outcomes (1)
CMS (selective motor control scale) indexes
CMS indexes
Measured: 1 hour
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jun 2018
- Study start8 Jun 2018
- Primary completion7 Sep 2018
- Study completion7 Sep 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Kabuki SyndromeStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 25 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03547609
- Sponsor's protocol ID
- 5005
- Acronym
- MEM-K
- Status last verified
- May 2018
- First submitted
- 23 May 2018
- Last updated
- 3 Dec 2018
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
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.
PubMed 28295206
Study at a glance
From the registry record, last updated by the sponsor on 3 Dec 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study on the Mnemic Functioning of Children With Kabuki Syndrome
- ClinicalTrials.gov ID
- NCT03547609
- Acronym / sponsor ID
- MEM-K / 5005
- Conditions
- Kabuki Syndrome
- Keywords
- Kabuki Syndrome, Intellectual Profile, Memory
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 25 participants (actual)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- 8 Jun 2018 (actual)
- Primary completion
- 7 Sep 2018 (actual)
- Study completion
- 7 Sep 2018 (actual)
- First posted
- 6 Jun 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
Who may qualify
- Ages
- 6 to 16 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (3 listed)
- 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).
Key exclusion criteria (5 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No arm interventionNo arm intervention | Other | – |
Primary outcome
CMS (selective motor control scale) main score
Time frame: 1 hour
CMS main score
1 secondary outcome
CMS (selective motor control scale) indexes
Time frame: 1 hour
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Dec 2018.
- Results publication: PubMed 28295206Lehman 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.
- Individual participant dataSharing planned: Undecided
Related trials for Kabuki Syndrome
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingObservational study
Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset
Rare Fetal Genetic Diseases, Congenital Malformation
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing No arm intervention in people with Kabuki Syndrome, run by University Hospital, Montpellier at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 3 Dec 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
CMS (selective motor control scale) main score (time frame: 1 hour). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03547609, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Dec 2018.