MedTrace Logo

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

NCT06378216 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 30

Last updated 2024-04-22

No results posted yet for this study

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

Interventions

DIAGNOSTIC_TEST

neurocognitive evaluations

clinical and neurocognitive evaluations neuroradiological evaluation through cerebral magnetic resonance

Sponsors & Collaborators

  • IRCCS Eugenio Medea

    lead OTHER

Eligibility

Min Age
1 Year
Max Age
35 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-09-15
Primary Completion
2024-03-18
Completion
2024-12-30

Countries

  • Italy

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06378216 on ClinicalTrials.gov