Rehabilitation in Muscular Dystrophies From the Hospital Facility to the Home: Pilot Project [RIMUDI]

Not Applicable

Recruiting

• Conditions: Muscular Dystrophies; Facio-Scapulo-Humeral Dystrophy; Limb Girdle Muscular Dystrophy; Becker Muscular Dystrophy

• Registration Number: NCT06378203
• Lead Sponsor: IRCCS Eugenio Medea

Brief Summary

Until twenty years ago physical exercise in muscular dystrophies was considered harmful to the muscle cells, inducing an acceleration of cell necrosis. In fact, it is now certain and validated that an active lifestyle and the practice of controlled and regular physical activity are to be considered therapeutic in neuromuscular pathologies with the aim of optimizing muscular and cardio-respiratory function and preventing atrophy In particular, it seems that the optimal care is extensive and can be carried out in a safe and controlled manner even at home.

It is well documented that exercise has beneficial effects on muscle with increased strength and muscular endurance.

Detailed Description

This project was born precisely from the idea of giving an answer to the needs of patients on the one hand regarding being educated to carry out a physical activity/exercise "suitable" for the dystrophic muscle fiber and on the other to be able to insert this into everyday life activities, with remote expert monitoring.

One aim is to offer continuity of care between the hospital structure and the home, also offering a concrete response to the inconsistent care guaranteed for these chronic developmental diseases by the National Health Service. The drafting of a personalized therapeutic plan, to be implemented within the home, would not only support the patient's motor needs, but would also guarantee a positive impact on a psychological level, strengthening the patient's participation in shared therapeutic objectives and awareness of the same. This pilot project aims to evaluate the effectiveness of a 6-month tele-rehabilitation program for continuity of care in a population of subjects suffering from neuromuscular pathology. The primary outcome will then be integrated with an assessment of tolerance of the path and usability and acceptability of the tele-rehabilitation system used.

Each patient will carry out a series of evaluation and training sessions (15 sessions) with a physiotherapist for the drafting of a personalized treatment plan that subsequently will be carried out "independently" at domicile.

During these days, periodic clinical-instrumental evaluations indicated by the specific guidelines for each form of dystrophy and in particular cardiorespiratory and nutritional status ones will also be carried out.

Furthermore, "educational" support will also take place, instructing the patient about the benefits of maintaining an active lifestyle and regular practice of controlled physical activity.

The home therapeutic proposal will include the use of the tele-rehabilitation system with virtual reality Home Kit - Virtual Reality Rehabilitation System (VRRS KHIMEYA) which allows to perform personalized games at home.

Study Timeline

• Study Start: 2023-12-15
• Study First Submitted: 2024-03-19
• Status Verified: 2024-04
• Study First Submitted QC: 2024-04-19
• Last Update Submitted: 2024-04-19
• Study First Posted: 2024-04-22
• Last Update Posted: 2024-04-22
• Primary Completion: 2024-12-15
• Study Completion: 2025-04-15

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 10

Inclusion Criteria

• definite genetic diagnosis of Limb Girdle Muscular Dystrophy: LGMD2A/R1(calpain 3 deficiency), LGMD2B/R2(dysferlin deficiency), LGMD2I/R9 (FKRP), LGMD2L /R11(ANOCTAMIN 5) or Facio Scapulo Humeral Dystrophy (FSHD) or Becker muscular dystrophy (BMD);

• strength values at the level of the main antigravity muscles > or equal to 3, according to the Medical Research Council (MRC) scale;
• independent walking in a protected (internal) environment, even with assistance;
• patients must have performed at least 1 clinical-functional evaluation at our facility in the year preceding the start of the trial.
• They must express compliance with joining the project and must not be followed from a physiotherapeutic point of view elsewhere during the 6 months of participation in the project.

Exclusion Criteria

• dilated or ischemic heart disease with Left Ventricle Ejection Fraction <50%;
• chronic respiratory failure with Forced Vital Capacity < 40% predicted, nocturnal oxygen desaturation - > 5% of nocturnal time spent with peripheral oxygen saturation levels < 90).

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Performance of Upper Limb (PUL)	6 Months: Modification from month 0 (baseline) to month 6	Performance of upper limb is a scale specifically designed to measure upper limb function in muscular dystrophy; there is an entry level item ranging from 0 to 6; the PUL scale test the proximal to distal progression of muscle weakness through three levels: high (shoulder domain), mid (elbow domain), and distal (wrist and finger domain); the PUL score (version 1.2) includes 22 items ; the overall scores ranges from 0 to 42
Time up and go (TUG)	6 months: Modification from month 0 (baseline) to month 6	Recording of the time required to stand up from a chair, walk for 3 meters and going back to the sitting position- normal range \< 10 seconds
6 minute walk test (6MWT)	6 months : Modification from month 0 (baseline) to month 6	6 Minute Walk Test (measured in meters- normal range 500-600 meters in 6 minutes)
Motor Function Measure scale (MFM)	6 months: Modification from month 0 (baseline) to month 6	MFM measures Motor function at 3 levels (D1 change position and transfers; D2 axial and proximal motor function; D3 distal motor function), Each i item is scored on a 4-point Likert scale from 0 (cannot initiate the task) to 3 (performs the task fully). Item scores are summed, and the raw score is transformed to an overall total score ranging from 0 (severe functional impairment) to 100 (no functional impairment). rated in % from 0 to 100 and an overall percentage is calculated , in %)

Secondary Outcome Measures

Name	Time	Method
Short Form 36 (SF36)	6 months: Modification from month 0 (baseline) to month 6	one multi-item scale that assesses eight health concepts: 1) limitations in physical activities because of health problems; 2) limitations in social activities because of physical or emotional problems; 3) limitations in usual role activities because of physical health problems; 4) bodily pain; 5) general mental health (psychological distress and well-being); 6) limitations in usual role activities because of emotional problems; 7) vitality (energy and fatigue); and 8) general health perceptions. Each item with a score ranging from 0 to 100
Modification of fatigue and quality of life scales from T0 to T6	6 months: Modification from month 0 (baseline) to month 6	Modified Fatigue Impact Scale (MFIS) composed by 3 sub scales (physical scale score final range from 0 to 36; COGNITIVE final range from 0 to 40; PSYCHOSOCIAL, final range score from 0 to 8) and 1 final total score ranging from 0 to 84

Trial Locations

Locations (1)

Scientific Institute IRCCS Eugenio Medea; 🇮🇹 Bosisio Parini, Lecco, Italy