Myotonic Dystrophy Type 1 Congenital and Juvenile Form: From Diagnosis to Rehabilitation

Status: Recruiting
Location: See location...
Intervention Type: Diagnostic test
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 1
Maximum Age: 35
Healthy Volunteers: f
View:

• 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.

Locations
Other Locations
Italy
Maria Grazia D'Angelo
RECRUITING
Bosisio Parini
Contact Information
Primary
Maria G D'Angelo, MD
grazia.dangelo@lanostrafamiglia.it
031877870
Time Frame
Start Date: 2022-09-15
Estimated Completion Date: 2024-12-30
Participants
Target number of participants: 30
Treatments
Myotonic Dystrophy type 1
Myotonic Dystrophy type 1 -congenital form Myotonic Dystrophy type 1-infantile form
Sponsors
Leads: IRCCS Eugenio Medea

This content was sourced from clinicaltrials.gov