Transition to Adulthood in People With Muscular Dystrophy

NCT07101185 | Not Yet Recruiting

• 1 other identifier: Medea 152/24
• Study Type: interventional
• Target: 250
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Duchenne / Becker Muscular Dystrophy

Keywords

Duchenne muscular dystrophy; transition to adulthood,; social cognition; psychosocial adjustment; mental health and coping strategies

Outcome Measures

Primary Outcomes (4)

• psychosocial adjustment, mental health and coping strategies

  To assess psychosocial adjustment, mental health and coping strategies through standardized measures in a large population of teenagers and adults with DMD and their caregivers

  baseline visit

• social cognition

  To test social cognition mechanisms with standardized neuropsychological evaluation and newly-developed cognitive neuroscience paradigms that investigate emotional and social processing in ecological settings using Virtual reality in a subsample of partecipants

  baseline visit

• body image

  To explore body image perception and assess its impact on psychological well-being exploring the role of cognitive and motor impairment as possible mediators

  baseline visit

• Correlation with medical conditions

  To investigate the interaction patterns between medical conditions and test on social cognition, psychosocial adjustment, mental health and coping strategies, to identify strengths to be supported and weaknesses to be reduced or counterbalanced.

  baseline visit

Study Arms (1)

one arm

EXPERIMENTAL

SOCIAL COGNITION- VIRTUAL REALITY

Device: VIRTUAL REALITY

Interventions

VIRTUAL REALITY DEVICE

The interventional part of the study is limited to 3 centers. It explores SOCIAL COGNITION throught a newly developed paradigm in Virtual Reality. In detail: an adapted version of the Virtual Reality Social Prediction Improvement and Rehabilitation Intensive Training (VR-SPIRIT) using a VR Head Mounted Display (HMD) will be implemented on a portable HMD, the Oculus Quest, equipped with two controllers with motion sensors that are used to track hand position. In a VR-SPIRIT session, participants are immersed in the playground scenario and engaged in a competition with four avatars. Each avatar has a pre-established probability to move toward one of the three described games. Different indices about a partecipant's performance are recorded automatically by the system during the session, such as the duration of each trial and the prediction score (percentage of trials in which the participant correctly predicted an avatar's intention).

one arm

Eligibility Criteria

• Age: 14 Years+
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Defined diagnosis of DMD
• Age \> 14 years
• Willingness and ability to comply to study procedures
• Comprehension of the study and Signature of the informed consent

You may not qualify if:

• Clinical history of cerebral palsy, severe intellectual deficit, severe behavioral disturbances
• absence of compliance to the studyof the patient and the caregivers.

Sponsors & Collaborators

• IRCCS Eugenio Medea: lead
• Università di Padova Italy: collaborator
• Fondazione Istituto Neurologico Nazionale Casimiro Mondino - IRCCS: collaborator
• Istituto Giannina Gaslini - IRCCS: collaborator
• Fondazione Serena Onlus - Centro Clinico NeMO Milano: collaborator
• Centro Clinico NeMO Ancona: collaborator
• Fondazione Stella Maris - IRCCS: collaborator
• Università degli Studi di Milano Statale: collaborator
• Centro Clinico NeMO Brescia: collaborator
• Fondazione Istituto Neurologico Carlo Besta - IRCCS: collaborator
• Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico: collaborator
• I.R.C.C.S. Eugenio Medea - Associazione La Nostra Famiglia - Sede di Conegliano: collaborator
• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: collaborator
• Dipartimento di Neuroscienze Rita Levi Montalcini Torino: collaborator
• Università Vita-Salute San Raffaele: collaborator
• Università di Pisa: collaborator
• Azienda Ospedaliera Universitaria Policlinico "G. Martino": collaborator
• Associazione La Nostra Famiglia Eugenio Medea - Brindisi: collaborator
• Scientific Institute, IRCCS E.Medea, Pasian di Prato: collaborator
• Istituto delle Scienze Neurologiche di Bologna - IRCCS: collaborator

Study Sites (1)

Unit of Rare Disease- Rehabilitation Dept

Bosisio Parini, Lecco, 23842, Italy

Location

Related Publications (1)

• Sanzo' S, Tizzoni F, Previtali SC, Berardinelli A, Nobile M, Molteni M, Manzoni M, Tarabelloni A, Russo A, Delle Fave A, D'Angelo MG. Psychosocial resources and psychopathology among persons with neuromuscular disorders during the COVID-19 pandemic. BMC Psychol. 2024 Apr 29;12(1):243. doi: 10.1186/s40359-024-01742-5.

  PMID: 38685111 BACKGROUND

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne; Psychological Well-Being

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Personal Satisfaction; Behavior

Central Study Contacts

Maria Grazia N D'Angelo, MD PhD

CONTACT

+39 031877870; grazia.dangelo@lanostrafamiglia.it

Maria Nobile, MD

CONTACT

+39 031 877111; maria.nobile@lanostrafamiglia.it

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Standardized neuropsychological measures of Theory of Mind will be also administered. The Virtual Reality (VR) scenario will be used to measure social cognition abilities in a subsample of 40 patients recruited at the centers of the Scientific Institute E. Medea in Bosisio and in Brindisi and at the Fondazione Mondino in Pavia, which have equipment and know-how for VR applications.

Study Record Dates

• First Submitted: July 24, 2025
• First Posted: August 3, 2025
• Study Start: September 1, 2025
• Primary Completion (Estimated): August 1, 2027
• Study Completion (Estimated): August 1, 2027
• Last Updated: August 3, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)