DystrophinopathiesDECODYSNCT07125898
Decoding Central Defects in Dystrophinopathies From Diagnostic to Remediation
An observational study of Dystrophinopathies, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
The study aims to identify a genotype/phenotype correlation by analyzing more finely the neurodevelopmental disorders in DMD patients. Read more about this study
- Who is it for?
- Ages 5 to 12 years
- Conditions the study is for
- Dystrophinopathies
- How many people
- 110 participants
- Where
- 1 siteFrance
- Study dates
- 16 Sep 2026to Mar 2031
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 5 to 12 years
- All sexes
- No healthy volunteers
- Child
Study population: DMD diagnosis confirmed by a genetic analysis
Who may be able to join
- French citizenship, affiliated to the French Social Security,
- 5 to 12 years old,
- DMD diagnosis confirmed by a genetic analysis predicting breaking in the reading frame of the DMD gene with knowledge of the limits of the mutation,
- Follow-up in a French referral or a skills center belonging to Filnemus.
Who cannot join
- Severe intellectual deficiency with IQ < 55, and IQ < 70 for the deep neurocognitive evaluation (executive and socio-cognitive evaluation),
- Cataract except if operated (pseudophakic),
- High intraocular pressure,
- Cardiac dysfunction with left ventricular ejection fraction < 35%,
- Respiratory dysfunction with force vital capacity < 70%,
- Difficulties in fine motor skills with D3 MFM scale < 75%
- Treatment with methylphenidate: In case of hyperactive patients, the treatment will be transitorily interrupted the week before testing.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Hôpital Necker Enfants Malades
Paris, Île-de-France Region, 75015
Isabelle DESGUERRE, MD, PhD, 01 44 49 48 56 ext. +33, isabelle.desguerre@aphp.fr
Aminata TRAORE, Project advisor, 01 42 19 27 34 ext. +33, Aminata.traore6@aphp.fr
About this study
The study aims to identify a genotype/phenotype correlation by analyzing more finely the neurodevelopmental disorders in DMD patients.
Read the detailed description
We propose a unique longitudinal study in which DMD children aged 5-12 years old will first be engaged in a deep evaluation of a range of cognitive, behavioral, physiological and neural functions (identification of biomarkers based on ERG) and an eligible subgroup of patients will then enter a second study phase (last 2 years) aimed at developing targeted cognitive remediation strategies:
- Deep evaluation with research of correlation between DMD patients' genotype and neurological/neuropsychological phenotype: - the nature and severity of the cognitive/executive/behavioral deficits, - the retinal/visual alterations, - functional brain imaging.
- Targeted cognitive remediation strategies in the same patients, to alleviate the identified neuropsychological and behavioral disturbances. We will place a particular focus on the socio-cognitive and executive weaknesse.
- Conditions
- Dystrophinopathies
- Keywords
- Cognitive deficits, Autism-spectrum disorders, Attention deficit hyperactivity Disorder
- Medical subject headings
- Cognition Disorders, Child Development Disorders, Pervasive, Attention Deficit Disorder with Hyperactivity
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Group 1: PHASE 1 | DMD diagnosis confirmed by a genetic analysis | |
| Group 2: PHASE 2 | DMD diagnosis confirmed whose neuropsychological data are eligible for remediation |
What is being measured
The primary outcome is the main question the study is designed to answer.
Nature and severity of sensory and neuropsychological disturbances
Specify the nature and severity of sensory and neuropsychological disturbances (cognitive, executive, emotional, behavioral and neuropsychiatric) according to the patient's genotype.
Measured: 12 Months
Secondary outcomes (3)
Correlations between sensory and neuropsychological measures
Analyze the correlations between sensory (retinal/visual) and neuropsychological measures, in order to determine if retinal defects represent a signature of neuropsychological impairment severity.
Measured: 24 Months
Correlation between neuropsychological and functional imaging parameters
Analyze correlation between neuropsychological and functional imaging parameters.
Measured: 24 Months
Correlation between sensory and functional imaging parameters
Analyze correlation between sensory and functional imaging parameters.
Measured: 24 Months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Aug 2025
- Study start16 Sep 2026
- Primary completionSep 2028 (estimated)
- Study completionMar 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for DystrophinopathiesStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe 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
- Prospective
- Enrolment
- 110 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Isabelle DESGUERRE, MD, PhD, Principal investigator, Hôpital Universitaire Necker - Enfants Malades
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07125898
- Sponsor's protocol ID
- APHP241376
- Acronym
- DECODYS
- Status last verified
- Sep 2026
- First submitted
- 11 Aug 2025
- Last updated
- 22 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Decoding Central Defects in Dystrophinopathies From Diagnostic to Remediation
- ClinicalTrials.gov ID
- NCT07125898
- Acronym / sponsor ID
- DECODYS / APHP241376
- Conditions
- Dystrophinopathies
- Keywords
- Cognitive deficits, Autism-spectrum disorders, Attention deficit hyperactivity Disorder
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 110 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 16 Sep 2026 (actual)
- Primary completion
- Sep 2028 (estimated)
- Study completion
- Mar 2031 (estimated)
- First posted
- 15 Aug 2025 (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.
The study aims to identify a genotype/phenotype correlation by analyzing more finely the neurodevelopmental disorders in DMD patients.
Detailed description
We propose a unique longitudinal study in which DMD children aged 5-12 years old will first be engaged in a deep evaluation of a range of cognitive, behavioral, physiological and neural functions (identification of biomarkers based on ERG) and an eligible subgroup of patients will then enter a second study phase (last 2 years) aimed at developing targeted cognitive remediation strategies:
- Deep evaluation with research of correlation between DMD patients' genotype and neurological/neuropsychological phenotype: - the nature and severity of the cognitive/executive/behavioral deficits, - the retinal/visual alterations, - functional brain imaging.
- Targeted cognitive remediation strategies in the same patients, to alleviate the identified neuropsychological and behavioral disturbances. We will place a particular focus on the socio-cognitive and executive weaknesse.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Group 1: PHASE 1 | – | –DMD diagnosis confirmed by a genetic analysis |
| Group 2: PHASE 2 | – | –DMD diagnosis confirmed whose neuropsychological data are eligible for remediation |
Who may qualify
- Ages
- 5 to 12 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- DMD diagnosis confirmed by a genetic analysis
Key inclusion criteria (4 listed)
- French citizenship, affiliated to the French Social Security,
- 5 to 12 years old,
- DMD diagnosis confirmed by a genetic analysis predicting breaking in the reading frame of the DMD gene with knowledge of the limits of the mutation,
- Follow-up in a French referral or a skills center belonging to Filnemus.
Key exclusion criteria (7 listed)
- Severe intellectual deficiency with IQ < 55, and IQ < 70 for the deep neurocognitive evaluation (executive and socio-cognitive evaluation),
- Cataract except if operated (pseudophakic),
- High intraocular pressure,
- Cardiac dysfunction with left ventricular ejection fraction < 35%,
- Respiratory dysfunction with force vital capacity < 70%,
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Nature and severity of sensory and neuropsychological disturbances
Time frame: 12 Months
Specify the nature and severity of sensory and neuropsychological disturbances (cognitive, executive, emotional, behavioral and neuropsychiatric) according to the patient's genotype.
3 secondary outcomes
Correlations between sensory and neuropsychological measures
Time frame: 24 Months
Correlation between neuropsychological and functional imaging parameters
Time frame: 24 Months
Correlation between sensory and functional imaging parameters
Time frame: 24 Months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Sep 2026.
- Individual participant dataSharing planned: No
Related trials for Dystrophinopathies
RecruitingObservational study
DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies
Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy
Not yet recruitingObservational study
Social Cognition in Dystrophinopathies and Neurodevelopmental Disorders
Duchenne / Becker Muscular Dystrophy, Osteogenesis Imperfecta (OI)
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.
Isabelle DESGUERRE, MD, PhD principal investigator
Hôpital Universitaire Necker - Enfants Malades
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 Dystrophinopathies, run by Assistance Publique - Hôpitaux de Paris 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 7 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: looking for participants now, as of the sponsor's last update on 22 Sep 2026. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Isabelle DESGUERRE, MD, PhD (01 44 49 48 56 ext. +33, isabelle.desguerre@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Nature and severity of sensory and neuropsychological disturbances (time frame: 12 Months). 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 22 Sep 2026.