Ignite Creation Date:
2024-05-06 @ 8:25 PM
Last Modification Date:
2024-10-26 @ 3:27 PM
Study NCT ID:
NCT06378216
Status:
RECRUITING
Last Update Posted:
2024-04-22
First Post:
2024-03-19
Brief Title:
Myotonic Dystrophy Type 1 Congenital and Juvenile Form From Diagnosis to Rehabilitation MDCJ-NeuBeRe
Sponsor:
IRCCS Eugenio Medea
Organization:
IRCCS Eugenio Medea
Study Overview
Official Title:
Myotonic Dystrophy Type 1 Congenital and Juvenile Form From Diagnosis to Rehabilitation
Status:
RECRUITING
Status Verified Date:
2024-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
MDCJ-NeuBeRe
Brief Summary:
The rationale of the study is to collect structured data in the neuropsychological clinical neuroradiologic and neurorehabilitation fields in childrenyoung 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
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:
A Recruitment of patients with a defined diagnosis of Myotonic Dystrophy type 1 see following inclusion and exclusion criteria
B Clinical and cognitive evaluation
1 neurological and neuromuscular examination compilation of the MIRS-muscle scale and EPWORTH scale-daytime sleepiness 1 session of approximately 1 hour
2 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
1 intelligence quotient
2 attention
3 memory
4 visual-constructive skills and executive functions
3 psychiatric examination and administration of psychological tests MMPI-2 Minnesota Multiphasic Personality Inventory 2 to investigate any psychopathologies behavioral disorders anxiety disorders developmental disorders hyperactivityattention deficit and to define the psychological-behavioral profile and adaptive Vineland Adaptive Behavioral Scale
4 neuroimaging examination through Morphological magnetic resonance and Diffusor Tensor imaging and Voxel Based Morphometry protocols
5 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 chewingswallowing
B Clinical and cognitive evaluation
1 neurological and neuromuscular examination compilation of the MIRS-muscle scale and EPWORTH scale-daytime sleepiness 1 session of approximately 1 hour
2 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
1 intelligence quotient
2 attention
3 memory
4 visual-constructive skills and executive functions
3 psychiatric examination and administration of psychological tests MMPI-2 Minnesota Multiphasic Personality Inventory 2 to investigate any psychopathologies behavioral disorders anxiety disorders developmental disorders hyperactivityattention deficit and to define the psychological-behavioral profile and adaptive Vineland Adaptive Behavioral Scale
4 neuroimaging examination through Morphological magnetic resonance and Diffusor Tensor imaging and Voxel Based Morphometry protocols
5 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 chewingswallowing
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None