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

NCT06378216 | Recruiting

• 1 other identifier: MEDEA 975
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

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.

Conditions

Myotonic Dystrophy 1

Keywords

Myotonic dystrophy congenital form; Myotonic dystrophy infantile form; neuropsychological evaluation; behavioral evaluation; brain imaging study

Outcome Measures

Primary Outcomes (7)

• 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

  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)

  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)

  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)

  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)

  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)

  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):

  through study completion,an average of 2 years

Secondary Outcomes (5)

• clinical evaluation by Epworth Sleepiness Scale

  through study completion,an average of 2 years

• cognitive evaluation by Wisconsin Card Sorting Test

  through study completion,an average of 2 years

• cognitive evaluation by Tower of London test

  through study completion,an average of 2 years

• cognitive and behavioral evaluation by Minnesota Multiphasic Personality Inventory

  through study completion,an average of 2 years

• cognitive and behavioral evaluation by Vineland Adaptive Behavior Scales

  through study completion :an average of 2 years

Study Arms (1)

Myotonic Dystrophy type 1

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

Diagnostic Test: neurocognitive evaluations

Interventions

neurocognitive evaluations DIAGNOSTIC_TEST

clinical and neurocognitive evaluations neuroradiological evaluation through cerebral magnetic resonance

Also known as: cerebral imaging

Myotonic Dystrophy type 1

Eligibility Criteria

• Age: 1 Year - 35 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Patients with a defined diagnosis of MYotonic Dystrophy type 1, congenital and juvenile form

You may qualify if:

• 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.

You may not qualify if:

• 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. -

Sponsors & Collaborators

• IRCCS Eugenio Medea: lead

Study Sites (1)

Maria Grazia D'Angelo

Bosisio Parini, Lecco, 23842, Italy

RECRUITING

MeSH Terms

Conditions

Myotonic Dystrophy

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Maria G D'Angelo, MD

CONTACT

031877870; grazia.dangelo@lanostrafamiglia.it

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 19, 2024
• First Posted: April 22, 2024
• Study Start: September 15, 2022
• Primary Completion: March 18, 2024
• Study Completion: December 30, 2024
• Last Updated: April 22, 2024

Record last verified: 2024-04

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)