DMDD-BRAINNCT06581887
Defining Outcome Measures for Behavioural and Emotional Problems in Dystrophinopathies
An observational study of DMD and BMD, run by University College, London at 1 site in United Kingdom.
Trial summary
Study aims to develop and to evaluate the neurophysiological and physiological response to a classical conditioning task.To better understand how Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) impacts mental health and how to assess it. Read more about this study
- Who is it for?
- Ages 7 to 17 years, men onlyHealthy volunteers can take part
- What is being tested?
- Classical conditioning task
- Type of treatment
- Lifestyle or therapy programme
- How many people
- 100 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 13 Sep 2022to 31 Dec 2024
- Phase
- Observational
- 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 7 to 17 years
- Men only
- Healthy volunteers accepted
- Child
Study population: 40 DMD, 30 BMD patients and 30 age-matched controls.
Who may be able to join
- DMD patients:
- Male
- Age range 7-17 years
- A genetically proven diagnosis of DMD.
- A genetic mutation that abrogates expression of Dp427 alone (assigned in DMD Group 1: Dp427-/Dp140+) or both Dp427 and Dp140 (assigned to DMD Group 2: Dp427-/Dp140-).
- Ability to consent/assent
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- BMD patients:
- Male
- Age range 7-17 years
- A genetically proven diagnosis of BMD.
- A genetic mutation that decreases expression of Dp427 alone (assigned to BMD Group 1), of both Dp427 and Dp140 (assigned to BMD Group 2).
- Ability to consent/assent
- Control participants:
- Male
- Age range 7-17 years.
- Ability to consent/assent
Who cannot join
- DMD \& BMD patients:
- Significant visual or hearing impairment
- Specific phobias or sensory sensitivities to stimuli similar to the ones used in this study
- Current participation in a clinical trial investigating a new drug involved in dystrophin modulation.
- Inability to consent (for parents/guardians or self-reporting participants aged 16 and 17) or assent. This will exclude the rare individuals with extremely severe learning disability, as the assent in these patients is impossible (or the consent in self-reporting participants aged 16 and 17).
- Control participants:
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- Significant visual or hearing impairment
- Specific phobias or sensory sensitivities to stimuli similar to the ones used in this study
- Any diagnosis of neurological or psychiatric condition
- General exclusion criteria for MRI:
- Claustrophobia
- Pacemakers and defibrillators
- Nerve stimulators
- Intracranial clips
- Intraorbital or intraocular metallic fragments
- Cochlear implants
- Ferromagnetic implants (e.g. thoracic implant for scoliosis)
- Inability to lie supine during less than 45 minutes
- Not having a general practitioner
- Severe learning disability which will require a general anaesthetic
Trial locations and contacts
1 site in 1 country.
United Kingdom1 site, 1 recruiting
- Recruiting
UCL GOS Institute of Child Health
London, WC1N 1EH
Anna Kolesnik, PhD, braindmd@ucl.ac.uk
Natasha Aslam, MSc, natasha.aslam@ucl.ac.uk
About this study
Study aims to develop and to evaluate the neurophysiological and physiological response to a classical conditioning task.To better understand how Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) impacts mental health and how to assess it. Participants invited to complete questionnaires about behaviour, cognitive function and social interactions, complete computer tasks and have an optional MRI brain scan,
Read the detailed description
The investigation aims to develop and to evaluate the neurophysiological and physiological response to a classical conditioning task, which is comparable to findings that have been made in the mdx dystrophic mouse (deficient in Dp427). The investigators will assess correlations between the specific DMD/BMD genotype and susceptibility to conditioning, as well as the relationship between conditioning and behavioural/emotional characteristics of the syndrome. At the end of the study, the objective is to deliver a comprehensive test battery that is suitable for use in a trial of AON delivery to improve brain function.
- Being tested
- Classical conditioning task
- Keywords
- Antisense oligonucleotide
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Classical conditioning taskBehavioural
To evaluate the neurophysiological and physiological response to a classical conditioning task, which is comparable to findings that have been made in the mdx dystrophic mouse (deficient in Dp427). The investigators will assess correlations between the specific DMD/BMD genotype and susceptibility to conditioning, as well as the relationship between conditioning and behavioural/emotional characteristics of the syndrome.
| Study group | Role | What they receive |
|---|---|---|
| Cohort | * Social Responsiveness Scale (SRS - II)
* ADHD Rating scale (5th edition) (ADHD - RS V)
* Child Behaviour Checklist (CBCL)
* Revised Children's Anxiety and Depression Scale (RCADS-P)
* Behaviour Rating Inventory of Executive Function (BRIEF - P)
* Wechsler Intelligence test for children version V (WISC-V)
* Autism Diagnostic Observation Schedule (ADOS)
* Behavioural Assessment of the Dysexecutive Syndrome for Children (BADS-C)
* Psychophysiological task: A task previously used to measure the emotional response of patients through the usage of visual and auditory aversive stimuli. The emotional response will be measured through skin conductance, heartrate, pupil responses.
* Purdue Pegboard
* A subset of patients will be also asked to undergo an MRI brain scan Receives: Behavioral: Classical conditioning task |
What is being measured
The primary outcome is the main question the study is designed to answer.
Group differences between DMD, BMD and controls in the initial aversive unconditioned stimulus.
Following an emotional response task, an interim analysis will be done after the first 30 patients have been tested (10 DMD, 10 BMD, 10 controls). A favourable outcome will demonstrate a difference in the emotional response of these groups. Groups will complete questionnaires, an emotional response task, and a fine motor assessment.
Measured: through study completion, an average of 2 years
Secondary outcomes (1)
To observe any difference between and within BMD, DMD and control groups in regard to learning, habituation and extinction
This will be measured by analysis measuring any difference between and within groups (10 BMD, 10 DMD and 10 control). Physiological responses generated by the task will be measured, along with neural imaging.
Measured: through study completion, an average of 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Sep 2024
- Study start13 Sep 2022
- Primary completion19 Nov 2024 (estimated)
- Study completion31 Dec 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for DMDStudies of the same condition, open and under way.
- More trials run by University College, LondonThe 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
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University College, London
- Sponsor type
- University, hospital or other
- Collaborators
- Sarepta Therapeutics, Inc.
- Responsible party
- Sponsor
- Investigators
- Francesco Muntoni, Professor, Principal investigator, University College, London
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06581887
- Sponsor's protocol ID
- 21/WM/0267
- Other IDs
- 302390
- Acronym
- D-BRAIN
- Status last verified
- Aug 2024
- First submitted
- 8 Aug 2024
- Last updated
- 3 Sep 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: The results of the study will be published in peer-reviewed scientific journal(s), presented at relevant national and international meetings, and reported as part of submissions to regulatory and funding bodies (Joint Research \& Development Office, GOSH \& ICH; NHS Research Ethics Committee; GOSH Charity). Participants will be asked if they wish to be contacted when the results are published, and if in agreement they will be informed by letter/email of any resulting publications.
Study at a glance
From the registry record, last updated by the sponsor on 3 Sep 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Defining Outcome Measures for Behavioural and Emotional Problems in Dystrophinopathies
- ClinicalTrials.gov ID
- NCT06581887
- Acronym / sponsor ID
- D-BRAIN / 21/WM/0267
- Keywords
- Antisense oligonucleotide
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- University College, LondonUniversity, hospital or other
- Collaborators
- Sarepta Therapeutics, Inc.
- Study start
- 13 Sep 2022 (actual)
- Primary completion
- 19 Nov 2024 (estimated)
- Study completion
- 31 Dec 2024 (estimated)
- First posted
- 3 Sep 2024 (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.
Study aims to develop and to evaluate the neurophysiological and physiological response to a classical conditioning task.To better understand how Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) impacts mental health and how to assess it. Participants invited to complete questionnaires about behaviour, cognitive function and social interactions, complete computer tasks and have an optional MRI brain scan,
Detailed description
The investigation aims to develop and to evaluate the neurophysiological and physiological response to a classical conditioning task, which is comparable to findings that have been made in the mdx dystrophic mouse (deficient in Dp427). The investigators will assess correlations between the specific DMD/BMD genotype and susceptibility to conditioning, as well as the relationship between conditioning and behavioural/emotional characteristics of the syndrome. At the end of the study, the objective is to deliver a comprehensive test battery that is suitable for use in a trial of AON delivery to improve brain function.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cohort | – | Behavioral: Classical conditioning task* Social Responsiveness Scale (SRS - II) * ADHD Rating scale (5th edition) (ADHD - RS V) * Child Behaviour Checklist (CBCL) * Revised Children's Anxiety and Depression Scale (RCADS-P) * Behaviour Rating Inventory of Executive Function (BRIEF - P) * Wechsler Intelligence test for children version V (WISC-V) * Autism Diagnostic Observation Schedule (ADOS) * Behavioural Assessment of the Dysexecutive Syndrome for Children (BADS-C) * Psychophysiological task: A task previously used to measure the emotional response of patients through the usage of visual and auditory aversive stimuli. The emotional response will be measured through skin conductance, heartrate, pupil responses. * Purdue Pegboard * A subset of patients will be also asked to undergo an MRI brain scan |
Who may qualify
- Ages
- 7 to 17 years
- Sex
- Male only
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- 40 DMD, 30 BMD patients and 30 age-matched controls.
Key inclusion criteria (16 listed)
- DMD patients:
- Male
- Age range 7-17 years
- A genetically proven diagnosis of BMD.
- A genetic mutation that decreases expression of Dp427 alone (assigned to BMD Group 1), of both Dp427 and Dp140 (assigned to BMD Group 2).
Key exclusion criteria (20 listed)
- DMD \& BMD patients:
- Significant visual or hearing impairment
- Specific phobias or sensory sensitivities to stimuli similar to the ones used in this study
- Any diagnosis of neurological or psychiatric condition
- Claustrophobia
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 |
|---|---|---|
| Classical conditioning taskTo evaluate the neurophysiological and physiological response to a classical conditioning task, which is comparable to findings that have been made in the mdx dystrophic mouse (deficient in Dp427). The investigators will assess correlations between the specific DMD/BMD genotype and susceptibility to conditioning, as well as the relationship between conditioning and behavioural/emotional characteristics of the syndrome. | Behavioural | Cohort |
Primary outcome
Group differences between DMD, BMD and controls in the initial aversive unconditioned stimulus.
Time frame: through study completion, an average of 2 years
Following an emotional response task, an interim analysis will be done after the first 30 patients have been tested (10 DMD, 10 BMD, 10 controls). A favourable outcome will demonstrate a difference in the emotional response of these groups. Groups will complete questionnaires, an emotional response task, and a fine motor assessment.
1 secondary outcome
To observe any difference between and within BMD, DMD and control groups in regard to learning, habituation and extinction
Time frame: through study completion, an average of 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Sep 2024.
- Duchenne clinical trial listingLink provided by the sponsor.
- Health Research Authority research summaryLink provided by the sponsor.
- Individual participant dataSharing planned: No. The results of the study will be published in peer-reviewed scientific journal(s), presented at relevant national and international meetings, and reported as part of submissions to regulatory and funding bodies (Joint Research \& Development Office, GOSH \& ICH; NHS Research Ethics Committee; GOSH Charity). Participants will be asked if they wish to be contacted when the results are published, and if in agreement they will be informed by letter/email of any resulting publications.
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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.
Francesco Muntoni, Professor principal investigator
University College, London
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of DMD and BMD, run by University College, London at 1 site in United Kingdom.
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 16 inclusion and 20 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 3 Sep 2024. 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 United Kingdom. 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 Anna Kolesnik, Dr (44 (0) 20 7905 2600, braindmd@ucl.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Group differences between DMD, BMD and controls in the initial aversive unconditioned stimulus. (time frame: through study completion, an average of 2 years). 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 3 Sep 2024.