Myotonic Dystrophy Type 1 Congenital and Juvenile Form: From Diagnosis to Rehabilitation [MDCJ-NeuBeRe]

NCT ID: NCT06378216

Last Updated: 2024-04-22

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 30 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2022-09-15
• Study Completion Date: 2024-12-30

Brief 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. 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

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, hyperactivity/attention 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 chewing/swallowing)

Conditions

Myotonic Dystrophy 1

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: OTHER

Study Groups

Myotonic Dystrophy type 1

Myotonic Dystrophy type 1 -congenital form Myotonic Dystrophy type 1-infantile form

neurocognitive evaluations

Intervention Type: DIAGNOSTIC_TEST

clinical and neurocognitive evaluations neuroradiological evaluation through cerebral magnetic resonance

Interventions

neurocognitive evaluations

clinical and neurocognitive evaluations neuroradiological evaluation through cerebral magnetic resonance

Intervention Type: DIAGNOSTIC_TEST

Other Intervention Names

cerebral imaging

Eligibility Criteria

Inclusion Criteria

1. genetically defined diagnosis of Steinert myotonic dystrophy

2. age <35 years

3. 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.

Exclusion Criteria

1. other concomitant pathologies that completely prevent the execution of clinical assessments

2. presence of devices and prostheses that prevent the execution of the MRI

3. lack of family compliance. -

• Minimum Eligible Age: 1 Year
• Maximum Eligible Age: 35 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

IRCCS Eugenio Medea

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Maria Grazia D'Angelo

Bosisio Parini, Lecco, Italy

Site Status: RECRUITING

Countries

Italy

Central Contacts

Maria G D'Angelo, MD

Role: CONTACT

grazia.dangelo@lanostrafamiglia.it

031877870 ext. +39

Facility Contacts

Maria Grazia D'Angelo

Role: primary

grazia.dangelo@lanostrafamiglia.it

+39031 877870

Other Identifiers

MEDEA 975

Identifier Type: -

Identifier Source: org_study_id