Clinical trial NCT06378203: Rehabilitation in Muscular Dystrophies From the Hospital Facility to the Home: Pilot Project [RIMUDI]
Official title: Rehabilitation in Muscular Dystrophies From the Hospital Facility to the Home: Pilot Project
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Muscular Dystrophies
Limb Girdle Muscular Dystrophy
Facio-Scapulo-Humeral Dystrophy
Becker Muscular Dystrophy
Keywords: muscular dystrophy
muscular training
muscular exercise
tele monitoring
home rehabilitation
Lead sponsor: IRCCS Eugenio Medea
Sponsor class: OTHER
First posted: 2024-04-22
Enrollment: 10
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: 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 which will subsequently be carried out "independently" at domicile.

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

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.

Eligibility criteria: 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).

Primary outcomes:
measure: 6 minute walk test (6MWT)
timeFrame: 6 months : Modification from month 0 (baseline) to month 6
measure: Motor Function Measure scale (MFM)
timeFrame: 6 months: Modification from month 0 (baseline) to month 6
measure: Performance of Upper Limb (PUL)
timeFrame: 6 Months: Modification from month 0 (baseline) to month 6
measure: Time up and go (TUG)
timeFrame: 6 months: Modification from month 0 (baseline) to month 6
Secondary outcomes:
measure: Modification of fatigue and quality of life scales from T0 to T6
timeFrame: 6 months: Modification from month 0 (baseline) to month 6
measure: Short Form 36 (SF36)
timeFrame: 6 months: Modification from month 0 (baseline) to month 6
Other outcomes:
Locations:
city: Bosisio Parini
country: Italy
facility: Scientific Institute IRCCS Eugenio Medea
state: Lecco
Study officials:
References:
citation: Preisler N, Orngreen MC. Exercise in muscle disorders: what is our current state? Curr Opin Neurol. 2018 Oct;31(5):610-617. doi: 10.1097/WCO.0000000000000597.
citation: Veenhuizen Y, Cup EHC, Jonker MA, Voet NBM, van Keulen BJ, Maas DM, Heeren A, Groothuis JT, van Engelen BGM, Geurts ACH. Self-management program improves participation in patients with neuromuscular disease: A randomized controlled trial. Neurology. 2019 Oct 29;93(18):e1720-e1731. doi: 10.1212/WNL.0000000000008393. Epub 2019 Sep 30.
citation: Siciliano G, Simoncini C, Giannotti S, Zampa V, Angelini C, Ricci G. Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages. Acta Myol. 2015 May;34(1):3-8.
citation: Eagle M. Report on the muscular dystrophy campaign workshop: exercise in neuromuscular diseases Newcastle, January 2002. Neuromuscul Disord. 2002 Dec;12(10):975-83. doi: 10.1016/s0960-8966(02)00136-0. No abstract available.
citation: Heutinck L, Jansen M, van den Elzen Y, van der Pijl D, de Groot IJM. Virtual Reality Computer Gaming with Dynamic Arm Support in Boys with Duchenne Muscular Dystrophy. J Neuromuscul Dis. 2018;5(3):359-372. doi: 10.3233/JND-180307.
citation: Jansen M, de Groot IJ, van Alfen N, Geurts ACh. Physical training in boys with Duchenne Muscular Dystrophy: the protocol of the No Use is Disuse study. BMC Pediatr. 2010 Aug 6;10:55. doi: 10.1186/1471-2431-10-55.