Friedreich 운동실조증 환자의 기립 균형 개선을 위한 안정 측정 플랫폼의 유효성.

In recent years, there has been increasing interest in the scientific literature on degenerative diseases such as ataxic syndromes. Friedreich's Ataxia is one of the most common forms of hereditary ataxia. It is defined as a multisystemic neurodegenerative disorder with an autosomal recessive inheritance pattern, presenting both neurological and non-neurological clinical manifestations. The disease results from a mutation in the X25 gene on chromosome 9, characterized by an excessive repetition of the GAA trinucleotide, which leads to a reduction and malfunction of frataxin. Friedreich's Ataxia typically manifests in the first or second decade of life, with a significant functional impact and progressive disability. Often, initial symptoms are characterized by severe balance and coordination impairments, which not only affect functional independence but also patients' quality of life.

Currently, therapeutic options are very limited. Omaveloxolone is the first and only drug approved in 2023 by the Food and Drug Administration and The European Medicines Agency for adults and adolescents aged ≥16 with Friedreich's Ataxia. It has been shown to improve the score on the Modified Friedreich's Ataxia Rating Scale after chronic treatment. Rehabilitation is defined by the World Health Organization as a set of interventions designed to reduce disability and optimize functioning in individuals interacting with their environment. Current literature suggests that rehabilitation plays a central role in the treatment of Friedreich's Ataxia. Impairments and limitations associated with Friedreich's Ataxia can be addressed through rehabilitative procedures that, although they do not affect disease progression, may significantly improve the patient's functionality. Several studies indicated that the use of technological aids in neurorehabilitation leads to improvements in various conditions. Technological aids offer several advantages over traditional rehabilitation by significantly contributing to motor learning and brain plasticity, both of which are key to improving motor recovery. These aids can be easily tailored to the specific needs of each patient. Technology-based rehabilitation platforms can adjust the difficulty level and type of exercises according to the patient's progress, ensuring a personalized approach. The use of technologies such as virtual reality and interactive games makes rehabilitation more engaging and enjoyable. This increases patients' motivation to actively participate in rehabilitation sessions, improving adherence to treatment. Technologies can provide real-time feedback on patient performance, enabling immediate adjustments and enhancing motor learning. This type of feedback is crucial for improving body awareness and movement precision. Additionally, technologies can integrate visual, auditory, and tactile stimuli, which can enhance learning and brain plasticity.

One technological aid used in rehabilitation is the stabilometric platform. This consists of a platform equipped with sensors that record the oscillations of the body's center of gravity while the patient stands on it. These data can be used to analyze postural stability, detect balance problems, and monitor progress in rehabilitation programs. It is often used in fields such as physiotherapy, sports, and biomechanical research. In recent years, it has also been used as a rehabilitative tool to improve balance, coordination, and proprioception, including in the neurological field. Integrating the stabilometric platform into rehabilitation programs offers a more comprehensive and targeted approach to addressing balance and postural stability issues. Several studies have compared conventional rehabilitation with combined treatments involving the stabilometric platform. Results indicate that conventional balance training can improve balance function in patients, but when combined with visual feedback balance training, the improvements are more significant. In the literature, the use of the stabilometric platform combined with traditional physiotherapy has shown considerable effectiveness in resolving balance deficits in patients with various neurological conditions, though this has not been demonstrated in . In the literature on Friedreich's Ataxia, several studies have used this tool for assessment purposes. Balance parameters obtained using the stabilometric platform have shown a significant increase over time in patients with Friedreich's Ataxia, indicating impaired postural stability and balance while standing. These measures are significantly correlated with performance scores on the Friedreich's Ataxia Rating Scale, particularly with the Friedreich's Ataxia Rating Scale subscale on Upright Stability. However, there are no specific studies regarding the application of this device as a rehabilitative tool in Friedreich's Ataxia.

According to the existing literature, the investigators propose an open-label, monocentric, randomized pilot study to compare the effectiveness of a conventional rehabilitation program combined with training on the stabilometric platform (Group A) versus conventional rehabilitation alone (Group B) in improving balance reactions specifically in patients with mild to moderate Friedreich's Ataxia. The investigators will use the Prokin 252 system on the Tecnobody stabilometric platform. Enrolled patients will be randomly assigned to one of the two treatment groups for four weeks. Three assessments will be conducted for each patient: one before treatment (T0), one at the end of treatment (T1), and a follow-up assessment 90 days after T1 via telemedicine (T2). At T0 and T1, assessments will include tests and scales that measure the patient's overall functioning, commonly used in clinical practice, such as the Modified Friedreich's Ataxia Rating Scale, Scale for Assessment and Rating of Ataxia, 6-Minute Walk Test, Timed Up and Go, Berg Balance Scale, and Functional Reach Test. Additionally, using the stabilometric platform, patients will perform static stability and limits of stability tests while standing. At T2, patients will be reassessed via telemedicine with only the Modified Friedreich's Ataxia Rating Scale administered and Scale for Assessment and Rating of Ataxia. Changes in scores obtained on scales and on stabilometric platform parameters will serve as the evaluation criteria for the potential effectiveness of the treatment, also compared to the outcomes of standard physiotherapy treatment.