Background: Telerehabilitation could benefit a large population by increasing adherence to rehabilitation protocols.Objective: Our objective was to review and discuss the use of cost-utility approaches in economic evaluations of telerehabilitation interventions.Methods: A review of the literature on PubMed, Scopus, Centres for Review and Dissemination databases (including the HTA database, the Database of Abstracts of Reviews of Effects, and the NHS Economic Evaluation Database), Cochrane Library, and ClinicalTrials.gov (last search on February 8, 2021) was conducted in accordance with PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. The inclusion criteria were defined in accordance with the PICOS (population, intervention, comparison, outcomes, and study design) system: the included studies had to evaluate patients in rehabilitation therapy for all diseases and disorders (population) through exercise-based telerehabilitation (intervention) and had to have a control group that received face-to-face rehabilitation (comparison), and these studies had to evaluate effectiveness through gain in quality of life (outcome) and used the design of randomized and controlled clinical studies (study).Results: We included 11 economic evaluations, of which 6 concerned cardiovascular diseases. Several types of interventions were assessed as telerehabilitation, consisting in monitoring of rehabilitation at home (monitored by physicians) or a rehabilitation program with exercise and an educational intervention at home alone. All studies were based on randomized clinical trials and used a validated health-related quality of life instrument to describe patients’ health states. Four evaluations used the EQ-5D, 1 used the EQ-5D-5L, 2 used the EQ-5D-3L, 3 used the Short-Form Six-Dimension questionnaire, and 1 used the 36-item Short Form survey. The mean quality-adjusted life years gained using telerehabilitation services varied from –0.09 to 0.89. These results were reported in terms of the probability that the intervention was cost-effective at different thresholds for willingness-to-pay values. Most studies showed results about telerehabilitation as dominant (ie, more effective and less costly) together with superiority or noninferiority in outcomes.Conclusions: There is evidence to support telerehabilitation as a cost-effective intervention for a large population among different disease areas. There is a need for conducting cost-effectiveness studies in countries because the available evidence has limited generalizability in such countries.Trial Registration: PROSPERO CRD42021248785; https://tinyurl.com/4xurdvwf

Background: Walking disorders represent the most disabling condition in persons with Multiple Sclerosis (PwMS). Several studies showed good reliability of the 6-min walk test (6MWT) (i.e., especially distance traveled), but little is known about the reliability of the Spatio-temporal (ST) variables in the 6MWT. Objective: To evaluate the test-retest reliability of ST variables and perceived exertion during the 6MWT in PwMS and comparable healthy persons. Methods: We explored three 1-min intervals (initial: 0′–1′, middle: 2′30″–3′30″, end: 5′–6′) of the 6MWT. Six ST variables and perceived exertion were measured (respectively, using the GAITRite system and the Borg Scale). These measurements were performed twice, 1 week apart. The test-retest effects were assessed using the intraclass correlation coefficient (ICC) or the weighted kappa. Results: Forty-five PwMS and 24 healthy persons were included. The test-retest reliability of ST variables values was good-to-excellent for PwMS (ICC range: 0.858–0.919) and moderate-to-excellent for healthy persons (ICC range: 0.569–0.946). The test-retest reliability values of perceived exertion were fair for PwMS (weighted kappa range: 0.279–0.376) and substantial for healthy persons (weighted kappa range: 0.734–0.788). Conclusion: The measurement of ST variables during these 6MWT intervals is reliable and applicable in clinical practice and research to adapt rehabilitation care in PwMS.

Two-thirds of people with Multiple Sclerosis (PwMS) have walking disabilities. Considering the literature, prolonged tests, such as the 6 min walk test, better reflect their everyday life walking capacities and endurance. However, in most studies, only the distance traveled during the 6MWT was measured. This study aims to analyze spatio-temporal (ST) walking patterns of PwMS and healthy people in the 6MWT. Participants performed a 6MWT with measures of five ST variables during three 1 min intervals (initial: 0′–1′, middle: 2′30″–3′30″, end: 5′–6′) of the 6MWT, using the GAITRite system. Forty-five PwMS and 24 healthy people were included. We observed in PwMS significant changes between initial and final intervals for all ST parameters, whereas healthy people had a rebound pattern but the changes between intervals were rather negligible. Moreover, ST variables’ changes were superior to the standard measurement error only for PwMS between initial and final intervals for all ST parameters. This result suggests that the modification in PwMS’ walking pattern is effectively due to their walking ability and not to a measurement, and suggests that PwMS could not manage their walking efficiently compared to healthy people, who could maintain their rhythm throughout the 6MWT. Further studies are needed to detect these patterns changes in the early evolution of the disease, identify clinical determinants involved in PwMS’ walking pattern, and investigate whether interventions can positively impact this pattern.

Introduction: The megalencephaly capillary malformation polymicrogyria (MCAP syndrome) results from mosaic gain-of-function PIK3CA variants. The main clinical features are macrocephaly, somatic overgrowth, neurodevelopmental delay and brain anomalies. Alpelisib (Vijoice) is a recently FDA-approved PI3Kα-specific inhibitor for patients with PIK3CA-related overgrowth spectrum (PROS). During its development, in patients with the MCAP subgroup of PROS, there was no specific, standardised evaluation of the effect on neuro-cognitive functioning. Moreover, it remains unknown if the molecule crosses the blood-brain barrier. Our objective is to evaluate the efficacy of a 24 month treatment with alpelisib on adaptive behaviour in patients with MCAP syndrome. Methods and analysis: SESAM is an industry-sponsored two-period multicentre French academic phase II trial, with a 6-month double-blind, placebo-controlled period followed by an open-label period. The primary endpoint is a ≥4-point improvement in the Vineland II Adaptive Behaviour Scale (VABS), 24 months after treatment initiation. Secondary objectives are safety, VABS improvement at 6 months, impact on the quality of life, epilepsy and hypotonia. 20 patients aged 2 to 40 years with an MCAP diagnosis and neurodevelopmental disorders of various degrees, will be followed monthly in local centres, centrally assessed (clinical, biological, neuropsychological and functional evaluation) at baseline and every 6 months. Patients will be evaluated by volumetric MRI at baseline and at 24 months. An optional lumbar puncture will be performed to investigate blood-brain barrier crossing. Inclusions were completed by April 2024, with the end of follow-up in November 2026. Given the efficacy of alpelisib in patients with PROS, if the drug crosses the blood-brain barrier, we can expect a clinical benefit for patients with neurocognitive disorders. Ethics and dissemination: Ethical approval was given by CPP Sud-Ouest et Outre-Mer I (reference: 2022-500197-34-01). Findings from this study will be disseminated via publication, reports and conference presentations. Trial registration number: NCT05577754