Pieve Di Soligo

Researchers are evaluating the potential effectiveness of an individualized intensive rehabilitation program using the Prokin 252 stabilometric platform to improve standing balance in adolescent and adult patients with Friedreich's Ataxia. This exploratory, randomized, controlled, open-label, monocentric pilot study aims to assess balance improvements and the retention of rehabilitation effects over time. Friedreich's Ataxia is a hereditary neurodegenerative disorder characterized by severe balance and coordination problems, leading to progressive disability and reduced quality of life. Current treatment options are limited, and rehabilitation combined with technology may enhance motor recovery and brain plasticity. Participants will be randomly assigned to one of two groups for four weeks: one group will receive balance training using the stabilometric platform combined with conventional rehabilitation, while the other group will receive conventional rehabilitation alone. The stabilometric platform sessions include warm-up, stabilometric tracings, dexterity and imbalance exercises, and TecnoBody Exergames to promote balance and motor learning. Conventional rehabilitation sessions involve tissue mobilization, muscle activation, static and dynamic balance training, and functional exercises relevant to daily life. Patients will undergo three assessments: before treatment (T0), at the end of treatment after four weeks (T1), and a follow-up 90 days after T1 conducted via telemedicine (T2). Assessments include 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, Functional Reach Test, and stabilometric platform tests for static stability and limits of stability. The study will measure changes in balance and motor function scores to evaluate treatment effectiveness and durability.

Hereditary Spastic Paraplegia (HSP) is a group of inherited neurological disorders that cause increasing weakness and stiffness in the lower limbs, leading to significant difficulties with balance and walking speed. There is currently no structured rehabilitation program designed to improve walking in adults with HSP. This research aims to evaluate the feasibility and potential benefits of a training program that focuses on flexibility, muscle strength, motor control, balance, and aerobic fitness. Twenty adults diagnosed with HSP will participate in 10 to 16 therapy sessions lasting 60 to 120 minutes each, scheduled once or twice per week based on individual preferences. The training includes four parts: flexibility exercises combined with electrical stimulation to reduce muscle stiffness; resistance and balance training targeting core and lower limb muscles; movement execution training based on motor learning to improve walking patterns and balance; and aerobic exercise using high-intensity interval training to enhance cardiovascular fitness. After completing the sessions, participants will receive written instructions and video tutorials to support ongoing home exercise. Participants will be assessed before the intervention, immediately after, and three months later. Researchers will track recruitment, retention, adherence to the program, safety, and patient satisfaction. They will also measure improvements in walking endurance and speed, muscle strength, joint movement, balance, and overall function. The study lasts about three months, and the results will help understand the feasibility of this rehabilitation approach for adults with HSP.

Researchers are conducting a prospective multicenter natural history study to better understand the range and progression of Hereditary Spastic Paraplegias (HSP) and related disorders. The study aims to identify digital, imaging, and molecular biomarkers to aid diagnosis and support therapy development, while also investigating the genetic causes and molecular mechanisms behind these diseases. Participants will be seen once a year for standardized clinical examinations, including clinical rating scales tailored to individual phenotypes and genotypes. Data from these visits will be collected in a clinical database. Participants may also choose to provide biological samples such as blood, urine, cerebrospinal fluid, and skin biopsy. Optional additional assessments include imaging studies, movement analysis, neuropsychological testing, patient or observer reported outcomes, and molecular analyses. For those without a genetic diagnosis, next-generation sequencing may be performed. Throughout the study, researchers will monitor changes in disease severity using the Spastic Paraplegia Rating Scale over a period of up to two years. Participants will undergo clinical evaluations and may provide biosamples at each visit. The study collects extensive data to track disease progression and identify biomarkers, with the overall goal of advancing understanding and treatment of HSP and related disorders.