Clinical Research Directory

Evaluation of the Role of miR-1 in the Pathogenesis and as a Biomarker in Muscular Dystrophies and Congenital Myopathies

The study aims to find out if a specific blood molecule called miR-1, can be used as a biomarker to track the health of patients with certain muscle diseases. MicroRNAs (miRs) are small messengers that help control how cells grow and stay healthy. Some of these, like miR-1, are specifically found in muscles and the heart. Research shows that levels of miR-1 are often abnormal in people with muscle-wasting conditions, but more information are needed to understand how this relates to the severity of the disease. The main goal is to compare the blood levels of miR-1 between four different groups at different ages and severities: 1. Patients with Duchenne or Becker muscular dystrophy (DMD/DMB). 2. Patients with Myotonic Dystrophy Type 1 (Steinert's disease). 3. Patients with congenital myopathies. 4. Healthy volunteers (control group). The main objective is to assess if miR-1 levels can accurately show how a muscular disease is progressing.

Transition to Adulthood in People With Muscular Dystrophy

The study will involve boys with Duchenne Muscular Dystrophy (DMD), from adolescence to adulthood living in Italy, and their families/ caregivers. The Investigators want to explore patients' mental health, social cognition and perception of body image as well as patients'and caregivers' ability to adapt to changes related to both the disease and various personal and social needs, through the use of short and simple questionnaires, neuropsychological tests and neurocognitive evaluation in ecological scenarios using Virtual Reality. The desire for autonomy and the awareness of both personal and social difficulties in achieving them put a strain on both patients and their families.Some studies conducted in the USA and in various European countries underline that the transition to adulthood of patients with muscular dystrophy is featured by a good ability to adapt to the more advanced stages of the disease in general; nevertheless, facing the worsening of health entails experiences of anxiety and depression.In this historical phase, clinical trials of gene therapy and gene modulating therapies are involving an increasing number of patients, mainly represented by children in the early phase of the disease. Hence, adolescents and young adults could develop feelings of exclusion from research efforts, losing confidence and hope in any future improvement of their condition, social participation and quality of life.This study could lead to identify strengths and weaknesses in social cognition and psychosocial adaptation; through the evaluation of characteristics of patients/caregivers or exogenous factors influencing higher levels of social adaptation, we ultimately aim to define strategies to improve not only physical (already defined by guidelines) but also psychological care, social cognition and social support in all stages of DMD, particularly in later ones.

Social Cognition in Dystrophinopathies and Neurodevelopmental Disorders

The primary aim of this observational study is to investigate specific aspects of social cognition in dystrophinopathies. Body awareness, interpersonal distance and emotional processing will be measured in a sample of patients affected by Becker (BMD) and Duchenne (DMD) muscular dystrophy, compared with a sample of patients affected by osteogenesis imperfecta (OI), and both compared with a control sample with typical development. The secondary aim is to study cortical activity at rest, by means of electroencephalography (EEG), to explore frequencies and time course of EEG responses. Moreover, the relationship between EEG activity and neuropsychological, dispositional and subjective measures will be explored through correlational analyses.