Myotonic Dystrophy 1MDCJ-NeuBeReNCT06378216
Myotonic Dystrophy Type 1 Congenital and Juvenile Form: From Diagnosis to Rehabilitation [MDCJ-NeuBeRe]
An observational study of Myotonic Dystrophy 1, run by IRCCS Eugenio Medea at 1 site in Italy.
Trial summary
The rationale of the study is to collect structured data in the neuropsychological, clinical neuroradiologic and neurorehabilitation fields in children/young people affected by congenital and juvenile myotonic dystrophy. Read more about this study
- Who is it for?
- Ages 1 year to 35 years
- Conditions the study is for
- Myotonic Dystrophy 1
- What is being tested?
- neurocognitive evaluations
- How many people
- 30 participants
- Where
- 1 siteItaly
- Study dates
- 15 Sep 2022to 30 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 1 year to 35 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Patients with a defined diagnosis of MYotonic Dystrophy type 1, congenital and juvenile form
Who may be able to join
- genetically defined diagnosis of Steinert myotonic dystrophy
- age <35 years
- reading and signing the informed consent. For the congenital form: presence of hypotonia and weakness at birth, for the juvenile form: onset between 1 and 10 years with normal pre-perinatal history.
Who cannot join
- other concomitant pathologies that completely prevent the execution of clinical assessments
- presence of devices and prostheses that prevent the execution of the MRI
- lack of family compliance. -
Trial locations and contacts
1 site in 1 country.
Italy1 site, 1 recruiting
- Recruiting
Maria Grazia D'Angelo
Bosisio Parini, Lecco, 23842
Maria Grazia D'Angelo, +39031 877870, grazia.dangelo@lanostrafamiglia.it
About this study
Official title: Myotonic Dystrophy Type 1 Congenital and Juvenile Form: From Diagnosis to Rehabilitation
The rationale of the study is to collect structured data in the neuropsychological, clinical neuroradiologic and neurorehabilitation fields in children/young people affected by congenital and juvenile myotonic dystrophy. Children affected by the congenital form (CDM1) present important brain alterations present since birth while, on the contrary, patients with the adult form of DM1 often present a degenerative, slowly progressive neurocognitive picture. Promising therapies that aim to correct the molecular mechanism underlying the symptoms of adult forms of DM1 are under development, but their potential role at the level of the nervous system and in particular in forms of CDM1 (which appears to be a distinct disorder of neuronal development) is also to be clarified.
To this end, a better definition of neurocognitive profiles and their evolution is essential for the purposes of evaluating the effectiveness of experimental therapies.
Read the detailed description
- Recruitment of patients with a defined diagnosis of Myotonic Dystrophy type 1 (see following inclusion and exclusion criteria)
- Clinical and cognitive evaluation
- neurological and neuromuscular examination, compilation of the MIRS-muscle scale and EPWORTH scale-daytime sleepiness (1 session of approximately 1 hour);
- administration of a neuropsychological battery, in order to define the level of cognitive functioning and to frame a detailed function-specific profile (multiple sessions to be defined based on the collaboration of the patients) investigating the following areas:
- intelligence quotient;
- attention;
- memory;
- visual-constructive skills and executive functions
- psychiatric examination and administration of psychological tests (MMPI-2, Minnesota Multiphasic Personality Inventory 2) to investigate any psychopathologies (behavioral disorders, anxiety disorders, developmental disorders, hyperactivity/attention deficit) and to define the psychological-behavioral profile and adaptive (Vineland Adaptive Behavioral Scale)
- neuroimaging examination through Morphological magnetic resonance and Diffusor Tensor imaging and Voxel Based Morphometry protocols
- based on the clinical conditions, a cardiological evaluation will also be carried out (including instrumental tests such as Electrocardiogram ECG, echocardiogram and 24-hour ECG) and pneumological evaluation (with recording of nocturnal oximetry, spirometry), eye examination, phoniatric examination and logopedic evaluation (aimed at evaluating chewing/swallowing)
- Conditions
- Myotonic Dystrophy 1
- Being tested
- neurocognitive evaluations
- Keywords
- Myotonic dystrophy congenital form, Myotonic dystrophy infantile form, neuropsychological evaluation, behavioral evaluation, brain imaging study
- Medical subject headings
- Myotonic Dystrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
neurocognitive evaluationsDiagnostic test
Also called cerebral imaging
clinical and neurocognitive evaluations neuroradiological evaluation through cerebral magnetic resonance
| Study group | Role | What they receive |
|---|---|---|
| Myotonic Dystrophy type 1 | Myotonic Dystrophy type 1 -congenital form Myotonic Dystrophy type 1-infantile form Receives: Diagnostic Test: neurocognitive evaluations |
What is being measured
The primary outcome is the main question the study is designed to answer.
Motor function evaluation by Muscular Impairment Rating Scale
Muscular Impairment Rating Scale (MIRS) in assessing patients with myotonic dystrophy type 1 (DM1). The MIRS is a ordinal five-point rating scale, where grade 1 = no clinical muscular impairment; grade 2 = early muscular impairment (clinical myotonia, facial weakness, and weakness of neck flexors) without limb weakness; grade 3 = distal weakness; grade 4 = mild to moderate (3 ≤ core < 5) proximal weakness; grade 5 = severe (MRC score<3)proximal weakness proximal weakness
Measured: through study completion,an average of 2 years
cognitive evaluation by Wechsler Intelligence scale
Wechsler Intelligence scale: mean score 100 SD 15 (SD: Standard Deviation):deficiency when 2 Standard Deviation below average)
Measured: through study completion,an average of 2 years
cognitive evaluation by Raven Matrices
Raven Matrices , Z scores=/> 0,00 (in range); Z scores =/< -2,00 (deficiency)
Measured: through study completion,an average of 2 years
cognitive evaluation by Continous Performance Test 3
Continous Performance Test 3: T mean Scores 50 SD 10 (SD: standard deviation) (T=45-59 in range; T =/>60 below range)
Measured: through study completion,an average of 2 years
cognitive evaluation by Trail Making Test A-B
Trail Making Test A-B: Z scores=/> 0,00 (in range); Z scores =/< -2,00 (deficiency)
Measured: through study completion,an average of 2 years
cognitive evaluation by Digit Span and CORSI Test
Digit Span and CORSI Test:Z scores=/> 0,00 (in range); Z scores =/< -2,00 (deficiency)
Measured: through study completion,an average of 2 years
cognitive evaluation by Rey Figure test
Rey Figure test: Z scores=/> 0,00 (in range); Z scores =/< -2,00 (deficiency):
Measured: through study completion,an average of 2 years
Secondary outcomes (5)
clinical evaluation by Epworth Sleepiness Scale
Epworth Sleepiness Scale: scores from 0 to 24; above 10, clinical risk.
Measured: through study completion,an average of 2 years
cognitive evaluation by Wisconsin Card Sorting Test
Wisconsin Card Sorting Test: mean score 100 SD 15 (SD: standard deviation) : deficiency when 2 Standard Deviation below average
Measured: through study completion,an average of 2 years
cognitive evaluation by Tower of London test
Tower of London:mean score 100 SD 15 deficiency when 2 Standard Deviation below average)
Measured: through study completion,an average of 2 years
cognitive and behavioral evaluation by Minnesota Multiphasic Personality Inventory
Minnesota Multiphasic Personality Inventory- MMPI 2: mean score 50 SD 10 ((SD: standard deviation)
Measured: through study completion,an average of 2 years
cognitive and behavioral evaluation by Vineland Adaptive Behavior Scales
Vineland Adaptive Behavior Scales mean score 100 SD 15 (SD: standard deviation) :deficiency when 2 Standard Deviation below average
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 posted22 Apr 2024
- Study start15 Sep 2022
- Primary completion18 Mar 2024
- Study completion30 Dec 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Myotonic Dystrophy 1Studies of the same condition, open and under way.
- More trials run by IRCCS Eugenio MedeaThe 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
- Case only
- Time perspective
- Other
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Eugenio Medea
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06378216
- Sponsor's protocol ID
- MEDEA 975
- Acronym
- MDCJ-NeuBeRe
- Status last verified
- Apr 2024
- First submitted
- 19 Mar 2024
- Last updated
- 22 Apr 2024
- 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 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Myotonic Dystrophy Type 1 Congenital and Juvenile Form: From Diagnosis to Rehabilitation
- ClinicalTrials.gov ID
- NCT06378216
- Acronym / sponsor ID
- MDCJ-NeuBeRe / MEDEA 975
- Conditions
- Myotonic Dystrophy 1
- Keywords
- Myotonic dystrophy congenital form, Myotonic dystrophy infantile form, neuropsychological evaluation, behavioral evaluation, brain imaging study
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- IRCCS Eugenio MedeaUniversity, hospital or other
- Study start
- 15 Sep 2022 (actual)
- Primary completion
- 18 Mar 2024 (actual)
- Study completion
- 30 Dec 2024 (estimated)
- First posted
- 22 Apr 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.
The rationale of the study is to collect structured data in the neuropsychological, clinical neuroradiologic and neurorehabilitation fields in children/young people affected by congenital and juvenile myotonic dystrophy. Children affected by the congenital form (CDM1) present important brain alterations present since birth while, on the contrary, patients with the adult form of DM1 often present a degenerative, slowly progressive neurocognitive picture. Promising therapies that aim to correct the molecular mechanism underlying the symptoms of adult forms of DM1 are under development, but their potential role at the level of the nervous system and in particular in forms of CDM1 (which appears to be a distinct disorder of neuronal development) is also to be clarified.
To this end, a better definition of neurocognitive profiles and their evolution is essential for the purposes of evaluating the effectiveness of experimental therapies.
Detailed description
- Recruitment of patients with a defined diagnosis of Myotonic Dystrophy type 1 (see following inclusion and exclusion criteria)
- Clinical and cognitive evaluation
- neurological and neuromuscular examination, compilation of the MIRS-muscle scale and EPWORTH scale-daytime sleepiness (1 session of approximately 1 hour);
- administration of a neuropsychological battery, in order to define the level of cognitive functioning and to frame a detailed function-specific profile (multiple sessions to be defined based on the collaboration of the patients) investigating the following areas:
- intelligence quotient;
- attention;
- memory;
- visual-constructive skills and executive functions
- psychiatric examination and administration of psychological tests (MMPI-2, Minnesota Multiphasic Personality Inventory 2) to investigate any psychopathologies (behavioral disorders, anxiety disorders, developmental disorders, hyperactivity/attention deficit) and to define the psychological-behavioral profile and adaptive (Vineland Adaptive Behavioral Scale)
- neuroimaging examination through Morphological magnetic resonance and Diffusor Tensor imaging and Voxel Based Morphometry protocols
- based on the clinical conditions, a cardiological evaluation will also be carried out (including instrumental tests such as Electrocardiogram ECG, echocardiogram and 24-hour ECG) and pneumological evaluation (with recording of nocturnal oximetry, spirometry), eye examination, phoniatric examination and logopedic evaluation (aimed at evaluating chewing/swallowing)
Study design
- Observational model
- Case only
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Myotonic Dystrophy type 1 | – | Diagnostic Test: neurocognitive evaluationsMyotonic Dystrophy type 1 -congenital form Myotonic Dystrophy type 1-infantile form |
Who may qualify
- Ages
- 1 year to 35 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Patients with a defined diagnosis of MYotonic Dystrophy type 1, congenital and juvenile form
Key inclusion criteria (3 listed)
- genetically defined diagnosis of Steinert myotonic dystrophy
- age <35 years
- reading and signing the informed consent. For the congenital form: presence of hypotonia and weakness at birth, for the juvenile form: onset between 1 and 10 years with normal pre-perinatal history.
Key exclusion criteria (3 listed)
- other concomitant pathologies that completely prevent the execution of clinical assessments
- presence of devices and prostheses that prevent the execution of the MRI
- lack of family compliance. -
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 |
|---|---|---|
| neurocognitive evaluationsAlso: cerebral imagingclinical and neurocognitive evaluations neuroradiological evaluation through cerebral magnetic resonance | Diagnostic test | Myotonic Dystrophy type 1 |
Primary outcome
Motor function evaluation by Muscular Impairment Rating Scale
Time frame: through study completion,an average of 2 years
Muscular Impairment Rating Scale (MIRS) in assessing patients with myotonic dystrophy type 1 (DM1). The MIRS is a ordinal five-point rating scale, where grade 1 = no clinical muscular impairment; grade 2 = early muscular impairment (clinical myotonia, facial weakness, and weakness of neck flexors) without limb weakness; grade 3 = distal weakness; grade 4 = mild to moderate (3 ≤ core < 5) proximal weakness; grade 5 = severe (MRC score<3)proximal weakness proximal weakness
cognitive evaluation by Wechsler Intelligence scale
Time frame: through study completion,an average of 2 years
Wechsler Intelligence scale: mean score 100 SD 15 (SD: Standard Deviation):deficiency when 2 Standard Deviation below average)
cognitive evaluation by Raven Matrices
Time frame: through study completion,an average of 2 years
Raven Matrices , Z scores=/> 0,00 (in range); Z scores =/< -2,00 (deficiency)
cognitive evaluation by Continous Performance Test 3
Time frame: through study completion,an average of 2 years
Continous Performance Test 3: T mean Scores 50 SD 10 (SD: standard deviation) (T=45-59 in range; T =/>60 below range)
cognitive evaluation by Trail Making Test A-B
Time frame: through study completion,an average of 2 years
Trail Making Test A-B: Z scores=/> 0,00 (in range); Z scores =/< -2,00 (deficiency)
cognitive evaluation by Digit Span and CORSI Test
Time frame: through study completion,an average of 2 years
Digit Span and CORSI Test:Z scores=/> 0,00 (in range); Z scores =/< -2,00 (deficiency)
cognitive evaluation by Rey Figure test
Time frame: through study completion,an average of 2 years
Rey Figure test: Z scores=/> 0,00 (in range); Z scores =/< -2,00 (deficiency):
5 secondary outcomes
clinical evaluation by Epworth Sleepiness Scale
Time frame: through study completion,an average of 2 years
cognitive evaluation by Wisconsin Card Sorting Test
Time frame: through study completion,an average of 2 years
cognitive evaluation by Tower of London test
Time frame: through study completion,an average of 2 years
cognitive and behavioral evaluation by Minnesota Multiphasic Personality Inventory
Time frame: through study completion,an average of 2 years
cognitive and behavioral evaluation by Vineland Adaptive Behavior Scales
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 22 Apr 2024.
- Individual participant dataSharing planned: No
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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.
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 Myotonic Dystrophy 1, run by IRCCS Eugenio Medea at 1 site in Italy.
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 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 22 Apr 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 Italy. 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 Maria G D'Angelo, MD (031877870 ext. +39, grazia.dangelo@lanostrafamiglia.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Motor function evaluation by Muscular Impairment Rating Scale (time frame: through study completion,an average of 2 years). The study lists 7 primary outcomes in all. 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 Apr 2024.