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.
