X-linked Mental RetardationXLMRNCT02854956
Clinical Phenotyping and Characterization of Neural Networks and Cognitive Processes Involved in Mental Retardation X-linked
A study testing Neuropsychological, cognitive and behavioral assessment in people with X-linked Mental Retardation, run by Hospices Civils de Lyon at 1 site in France.
Trial summary
X-linked Mental retardation (XLMR) represent 10% of the causes of mental retardation with a prevalence in both sexes around 1/296, i.e. 3.3 / 1000 births (Opitz et al., 1986). This heterogeneous group of XLMR includes dozens of rare diseases, some of them affecting only a few patients. Read more about this study
- Who is it for?
- Ages 2 to 60 yearsHealthy volunteers can take part
- Conditions the study is for
- X-linked Mental Retardation
- What is being tested?
- Neuropsychological, cognitive and behavioral assessment
- Type of treatment
- Lifestyle or therapy programme
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 573 participants
- Where
- 1 siteFrance
- Study dates
- Apr 2011to 31 Mar 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 2 to 60 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Who may be able to join
- Age : from 2 to 60 years old
- Having a pathogenic mutation of one of the X chromosome genes associated with :
- For boys : mental retardation (IQ<70), and/or developmental delay (DQ<70) and/or pervasive developmental disorder (autism, Asperger…)
- For girls : mental retardation (IQ<70), and/or developmental delay (DQ<70) and/or pervasive developmental disorder (autism, Asperger…) and/or specific learning disabilities
Who cannot join
- patient or parents refusal to participate in the study
- genetic polymorphism in a X chromosome gene involved in mental retardation but not considered as pathogenic
- person refusing to be informed if an abnormality would be discovered during medical examination
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
Groupement Hospitalier Est - Hôpital Femme Mère Enfant - Service de neurologie pédiatrique
Bron, 69500
Vincent DESPORTES, Pr, (0)4 27 85 67 61 ext. +33, vincent.desportes@chu-lyon.fr
Sonia GALLETTI, (0)4 27 85 77 39 ext. +33, sonia.galletti@chu-lyon.fr
About this study
X-linked Mental retardation (XLMR) represent 10% of the causes of mental retardation with a prevalence in both sexes around 1/296, i.e. 3.3 / 1000 births (Opitz et al., 1986). This heterogeneous group of XLMR includes dozens of rare diseases, some of them affecting only a few patients. Molecular diagnosis is currently available in France for 25 XLMR genes, within the national network of XLMR molecular diagnosis. However, whereas some syndromes such as Fragile X syndrome, are now well clinically defined, this is not the case for recently identified syndromes for which very few data is available, preventing clinicians to focus molecular diagnosis on a specific gene.
Therefore, this study aims to :
Read more
- Achieve a description of the clinical phenotype specific to each XLMR gene (Phase 1 of the study, n=200)
- Characterize the cognitive learning mechanisms and dysfunctional neural networks involved (Phase 2 of the study, n=75, i.e. 5 groups of 15 patients with a mutation in the same gene). These two elements constitute key steps to develop appropriate rehabilitation strategies and targeted pharmacological therapies.
Moreover, the impact of mental retardation on the primary caregiver within the family and the induced burden in terms of psycho-social, organizational and economic burden will also be assessed. These elements, directly related to the patient's environment, are very important to characterize in order to better understand the consequences of each gene mutation (Phase 3 of the study, n=283). For example, it is necessary to better understand the impact of Fragile X syndrome in terms of capacity and behavior, lifestyle, and health care needs of the patients While advancing knowledge allows to consider innovative therapeutics, the implementation of these therapeutics and assessment of their impact on the patients' life trajectory, require precise characterization of the population to be treated in medico socioeconomic terms.
- Conditions
- X-linked Mental Retardation
- Being tested
- Neuropsychological, cognitive and behavioral assessment
- Keywords
- phenotype, X-linked mental retardation, neuronal networks, cognitive processes
- Medical subject headings
- X-Linked Intellectual Disability
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Neuropsychological, cognitive and behavioral assessmentBehavioural
The assessment includes mainly :
- The Raven's Progressives matrices test which allow to assess the non-verbal reasoning mental age of the patient
- The Wechsler scale or Brunet Lézine scale which allow to assess The Intellectual Quotient
- The Peabody Picture Vocabulary Test Revised which allow to determine the Vocabulary age (receptive language).
- The Vineland adaptive behavioral scale which allow to assess the adaptive behavior
- The Nisonger child behavior rating form which allow to assess the behavior disorders
- Analogical visual reasoning task (eye-tracking assessment and behavior assessment) which allow to identify the strategy used to solve the task and provides an objective and quantitative assessment of visual analogical reasoning and cognitive inhibition.
- Kinematic analysis of a grasping movement which allow to study the effect of the orientation and the type of pinch on the movement duration and both the transport component and the grasp component.
| Study group | Role | What they receive |
|---|---|---|
| X-linked Mental retardation | Other | This is an observational study which will allow to precisely describe the phenotype associated to each X-linked mental retardation gene. Receives: Behavioral: Neuropsychological, cognitive and behavioral assessment |
| Control Group | Other | This group will be compared to X-linked mental retardation group in order to obtain a baseline on some cognitive tests. Receives: Behavioral: Neuropsychological, cognitive and behavioral assessment |
What is being measured
The primary outcome is the main question the study is designed to answer.
Clinical phenotyping of neurodevelopment: acquisition age of early developmental skills (motor and language), and the adaptive skills profile (Vineland adaptive behavioral scale)
The primary outcome measure is composite and includes acquisition age of early developmental skills (motor and language), and the adaptive skills profile (Vineland adaptive behavioral scale). The Vineland adaptive behavioral scale performed during a semi-structured interview of the parents of the patient, will assess the adaptive behavior profile of the patient (including communication, daily living skills, socialization, motricity and the global adaptive score).
Measured: at inclusion (Day 1)
Secondary outcomes (13)
Intellectual functioning assessment (Wechsler scale)
The Intellectual Quotient of the patient will be assessed using a Wechsler scale, adapted to the age of the patient. For patients younger than 3 years or too severely impaired to perform a Wechsler scale, the Brunet Lézine scale will be used.
Measured: at inclusion (Day 1)
Raven's Progressive matrices
The Raven's Progressives matrices test will allow to assess the non-verbal reasoning mental age of the patient
Measured: at inclusion (Day 1)
Peabody Picture Vocabulary Test Revised
The Peabody Picture Vocabulary Test Revised will allow to determine the Vocabulary age (receptive language) of the patient.
Measured: at inclusion (Day 1)
Edinburgh handedness test
The Edinburgh handedness test will assess the handedness of the patients.
Measured: at inclusion (Day 1)
Birth parameters: weight, height and head circumference and APGAR score
The birth parameters include weight, height and head circumference at birth, as well as the initial cardiac and pulmonary adaptation (APGAR score).
Measured: at inclusion (Day 1)
Nisonger child behavior rating form
The Nisonger child behavior rating form will allow the assessment of behavior disorders including: conduct disorders, anxiety, hyperactivity, automutilation/stereotyped behavior, self-isolation/rituals, sensitivity/susceptibility.
Measured: at inclusion (Day 1)
Caregiver Burden Inventory Modified
The Caregiver Burden Inventory Modified will allow the assessment of the impact of mental retardation on the primary caregiver within the family.
Measured: at inclusion (Day 1)
Analogical visual reasoning task (behavior assessment)
This paradigm (HCL/CNRS patented), appropriate for mentally retarded patients provides an objective and quantitative assessment of visual analogical reasoning and cognitive inhibition.
Measured: at inclusion (Day 1)
Analogical visual reasoning task (eye-tracking assessment)
The eye-tracking analysis of this paradigm (HCL/CNRS patented) made it possible to identify the strategy used by participants to solve the task. Mentally Retarded patients are not able to explicitly explain the strategy they used to solve the task, but with eye-tracking analysis, we can understand how they performed the task, which is crucial information in order to help them improve their performance through remediation strategies.
Measured: at inclusion (Day 1)
Kinematic analysis of a grasping movement
This kinematic analysis of a grasping movement will allow us to study the effect of the orientation (+56°or -56°) and the type of pinch (thumb-index, thumb-middle finger and thumb-annular) on the movement duration and both the transport component (wrist acceleration and velocity peaks, latencies and amplitudes) and the grasp component (maximum grip aperture latency and amplitude and opposition axis).
Measured: at inclusion (Day 1)
Structural neuroimaging by MRI
Structural brain MRI analysis will determine if a specific morphological neuroanatomical pattern can be found for each X-linked mental retardation gene.
Measured: at inclusion (Day 1)
Functional neuroimaging by MRI
Functional brain MRI analysis will determine if patients with X-linked mental retardation have a specific functional neuroanatomical pattern associated to the reasoning task.
Measured: at inclusion (Day 1)
School curriculum: age and type of shool
The school curriculum will include the age at school entrance, and the type of school the child went to.
Measured: at inclusion (Day 1)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Aug 2016 (estimated)
- Study startApr 2011
- Primary completionDec 2015
- Study completion31 Mar 2018 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for X-linked Mental RetardationStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe 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
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 573 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Vincent DESPORTES, Pr, Principal investigator, Groupement Hospitalier Est - Hôpital Femme Mère Enfant - Service de neurologie pédiatrique
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02854956
- Sponsor's protocol ID
- 2010-609
- Acronym
- XLMR
- Status last verified
- Jul 2017
- First submitted
- 29 Jun 2016
- Last updated
- 12 Jul 2017
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Phenotyping and Characterization of Neural Networks and Cognitive Processes Involved in Mental Retardation X-linked
- ClinicalTrials.gov ID
- NCT02854956
- Acronym / sponsor ID
- XLMR / 2010-609
- Conditions
- X-linked Mental Retardation
- Keywords
- phenotype, X-linked mental retardation, neuronal networks, cognitive processes
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 573 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- Apr 2011
- Primary completion
- Dec 2015 (actual)
- Study completion
- 31 Mar 2018 (estimated)
- First posted
- 4 Aug 2016 (estimated)
- 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.
X-linked Mental retardation (XLMR) represent 10% of the causes of mental retardation with a prevalence in both sexes around 1/296, i.e. 3.3 / 1000 births (Opitz et al., 1986). This heterogeneous group of XLMR includes dozens of rare diseases, some of them affecting only a few patients. Molecular diagnosis is currently available in France for 25 XLMR genes, within the national network of XLMR molecular diagnosis. However, whereas some syndromes such as Fragile X syndrome, are now well clinically defined, this is not the case for recently identified syndromes for which very few data is available, preventing clinicians to focus molecular diagnosis on a specific gene.
Therefore, this study aims to :
- Achieve a description of the clinical phenotype specific to each XLMR gene (Phase 1 of the study, n=200)
- Characterize the cognitive learning mechanisms and dysfunctional neural networks involved (Phase 2 of the study, n=75, i.e. 5 groups of 15 patients with a mutation in the same gene). These two elements constitute key steps to develop appropriate rehabilitation strategies and targeted pharmacological therapies.
Moreover, the impact of mental retardation on the primary caregiver within the family and the induced burden in terms of psycho-social, organizational and economic burden will also be assessed. These elements, directly related to the patient's environment, are very important to characterize in order to better understand the consequences of each gene mutation (Phase 3 of the study, n=283). For example, it is necessary to better understand the impact of Fragile X syndrome in terms of capacity and behavior, lifestyle, and health care needs of the patients While advancing knowledge allows to consider innovative therapeutics, the implementation of these therapeutics and assessment of their impact on the patients' life trajectory, require precise characterization of the population to be treated in medico socioeconomic terms.
Study design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| X-linked Mental retardation | Other | Behavioral: Neuropsychological, cognitive and behavioral assessmentThis is an observational study which will allow to precisely describe the phenotype associated to each X-linked mental retardation gene. |
| Control Group | Other | Behavioral: Neuropsychological, cognitive and behavioral assessmentThis group will be compared to X-linked mental retardation group in order to obtain a baseline on some cognitive tests. |
Who may qualify
- Ages
- 2 to 60 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
Key inclusion criteria (4 listed)
- Age : from 2 to 60 years old
- Having a pathogenic mutation of one of the X chromosome genes associated with :
Key exclusion criteria (3 listed)
- patient or parents refusal to participate in the study
- genetic polymorphism in a X chromosome gene involved in mental retardation but not considered as pathogenic
- person refusing to be informed if an abnormality would be discovered during medical examination
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 |
|---|---|---|
| Neuropsychological, cognitive and behavioral assessmentThe assessment includes mainly : * The Raven's Progressives matrices test which allow to assess the non-verbal reasoning mental age of the patient * The Wechsler scale or Brunet Lézine scale which allow to assess The Intellectual Quotient * The Peabody Picture Vocabulary Test Revised which allow to determine the Vocabulary age (receptive language). * The Vineland adaptive behavioral scale which allow to assess the adaptive behavior * The Nisonger child behavior rating form which allow to assess the behavior disorders * Analogical visual reasoning task (eye-tracking assessment and behavior assessment) which allow to identify the strategy used to solve the task and provides an objective and quantitative assessment of visual analogical reasoning and cognitive inhibition. * Kinematic analysis of a grasping movement which allow to study the effect of the orientation and the type of pinch on the movement duration and both the transport component and the grasp component. | Behavioural | Control Group, X-linked Mental retardation |
Primary outcome
Clinical phenotyping of neurodevelopment: acquisition age of early developmental skills (motor and language), and the adaptive skills profile (Vineland adaptive behavioral scale)
Time frame: at inclusion (Day 1)
The primary outcome measure is composite and includes acquisition age of early developmental skills (motor and language), and the adaptive skills profile (Vineland adaptive behavioral scale). The Vineland adaptive behavioral scale performed during a semi-structured interview of the parents of the patient, will assess the adaptive behavior profile of the patient (including communication, daily living skills, socialization, motricity and the global adaptive score).
13 secondary outcomes
Intellectual functioning assessment (Wechsler scale)
Time frame: at inclusion (Day 1)
Raven's Progressive matrices
Time frame: at inclusion (Day 1)
Peabody Picture Vocabulary Test Revised
Time frame: at inclusion (Day 1)
Edinburgh handedness test
Time frame: at inclusion (Day 1)
Birth parameters: weight, height and head circumference and APGAR score
Time frame: at inclusion (Day 1)
Nisonger child behavior rating form
Time frame: at inclusion (Day 1)
Caregiver Burden Inventory Modified
Time frame: at inclusion (Day 1)
Analogical visual reasoning task (behavior assessment)
Time frame: at inclusion (Day 1)
Analogical visual reasoning task (eye-tracking assessment)
Time frame: at inclusion (Day 1)
Kinematic analysis of a grasping movement
Time frame: at inclusion (Day 1)
Structural neuroimaging by MRI
Time frame: at inclusion (Day 1)
Functional neuroimaging by MRI
Time frame: at inclusion (Day 1)
School curriculum: age and type of shool
Time frame: at inclusion (Day 1)
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Jul 2017.
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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.
Vincent DESPORTES, Pr principal investigator
Groupement Hospitalier Est - Hôpital Femme Mère Enfant - Service de neurologie pédiatrique
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Neuropsychological, cognitive and behavioral assessment in people with X-linked Mental Retardation, run by Hospices Civils de Lyon 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 4 inclusion and 3 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: status not confirmed, as of the sponsor's last update on 12 Jul 2017. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Vincent DESPORTES, Pr ((0)4 27 85 67 61 ext. +33, vincent.desportes@chu-lyon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Clinical phenotyping of neurodevelopment: acquisition age of early developmental skills (motor and language), and the adaptive skills profile (Vineland adaptive behavioral scale) (time frame: at inclusion (Day 1)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 12 Jul 2017.