Hereditary Spastic Paraplegia
Conditions
Keywords
Hereditary spastic paraplegia, rehabilitation, exercise, Physical Therapy
Brief summary
This study aims to evaluate whether a 12-week program of strength and functional exercises can improve movement and daily function in people with Hereditary Spastic Paraplegia (HSP). Participants will take part in supervised exercise sessions twice a week, delivered by videoconference, with guidance from a physiotherapist. The exercises will be tailored to each participant's abilities and goals and will focus on improving muscle strength, balance, and walking. The study is a randomized crossover trial, meaning that all participants will experience both the exercise program and a comparison period without the intervention. Eligible participants are individuals aged 16 to 70 years with a clinical or genetically confirmed diagnosis of HSP, who are able to walk independently (with or without assistive devices) and have stable treatment for spasticity. Researchers will measure changes in walking ability, balance, muscle strength, and quality of life using clinical scales and functional tests. These include walking tests, mobility assessments, and questionnaires about daily activities and confidence in movement. To reduce bias, outcome assessments will be performed by an evaluator who is blinded to the participants' group allocation. The results of this study will help determine whether a structured exercise program is safe, feasible, and effective for improving motor symptoms in people with HSP, and may support its use as part of routine care.
Interventions
OTHERIndividualized Functional and Strength Exercises
Individualized functional and strength exercise intervention delivered via videoconference and supervised by a physiotherapist. Exercises are tailored according to Goal Attainment Scaling (GAS) and baseline physical activity level. The program consists of two sessions per week and follows key training principles (individuality, overload, adaptation, specificity, continuity, reversibility, and variability) with progressive loading. The intervention focuses on improving lower limb strength and functional mobility, particularly gait, and includes balance and gait training. Sessions are scheduled with 2-3 day intervals. Each exercise includes 1-3 sets of 8-15 repetitions, with 30-60 seconds rest between sets. Training intensity ranges from 40-60% of maximal strength for sedentary participants and 50-70% for physically active participants.
Sponsors
Hospital de Clinicas de Porto Alegre
Study design
Allocation
RANDOMIZED
Intervention model
CROSSOVER
Primary purpose
TREATMENT
Masking
DOUBLE (Investigator, Outcomes Assessor)
Masking description
Assessments will be conducted by two evaluators blinded to group allocation and will take place in person at two distinct time points: pre-intervention and immediately post-intervention.
Intervention model description
Single-blind, 1:1 randomized crossover adaptive study. Participants remain in their assigned group for 12 weeks, then cross over without washout, totaling 24 weeks (12 intervention, 12 control). The primary analysis compares pre-post response slopes after 12 weeks of active treatment versus control, using an intention-to-treat approach with a 2:1 treated-to-control proportion. The control period in those initially treated will be used to explore detraining effects and post hoc analyses. Twenty patients with hereditary spastic paraplegia (HSP) will be randomized and analyzed after 24 weeks. Sample size adaptation will be based on interim analyses at 12 and 24 weeks, considering three zones: favorable, promising (p\<0.2), or unfavorable (p\>0.2 or worse outcomes). Adaptation decisions will require at least one primary and one additional outcome (primary or secondary). No correction for multiple comparisons will be applied.
Eligibility
Sex/Gender
ALL
Age
16 Years to 70 Years
Healthy volunteers
No
Inclusion criteria
* Diagnosis of hereditary spastic paraplegia confirmed by genetic testing or clinical diagnosis with a positive family history * Age between 16 and 70 years * Independent ambulation, with or without assistive devices * Access to an electronic device (smartphone, tablet, or computer) with camera and internet connection * Stable therapeutic regimen for spasticity management (pharmacological and/or physiotherapy) for at least 6 months prior to enrollment
Exclusion criteria
* Presence of other neurological or systemic conditions causing additional motor impairment or musculoskeletal injury limiting movement * Inability to perform performance outcomes even with assistive devices * Planned or ongoing botulinum toxin injections or surgical interventions for spasticity reduction during the 12-week intervention period
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Spastic Paraplegia Rating Scale (SPRS) | Baseline, 12 and 24 weeks | Clinician-reported outcome used to assess disease severity in hereditary spastic paraplegia (HSP). It consists of 13 items evaluating gait, lower limb strength and spasticity, joint contractures, pain, and bladder and bowel function. Total scores range from 0 to 52, with higher scores indicating greater disease severity. |
| Timed Up and Go Test (TUG) - maximum walking speed | Baseline, 12 and 24 weeks | Performance outcome in which participants are instructed to stand up from a seated position, walk 3 meters, turn around, walk back, and sit down at maximum walking speed. The time to complete the task is recorded. |
| Goal Attainment Scaling (GAS) | Baseline, 12 and 24 weeks | individualized patient reported outcome measure used to assess the extent to which patient-specific goals are achieved during the intervention. Each participant will define four main individualized goals at baseline. Goals and expected levels of performance are defined individually for each participant and scored on a 5-point scale ranging from -2 to +2. A score of 0 represents the expected level of achievement, positive scores (+1, +2) indicate better-than-expected outcomes, and negative scores (-1, -2) indicate less-than-expected outcomes. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 10-Meter Walk Test (10MWT) - self-selected walking speed | Baseline, 12 and 24 weeks | Performance outcome in which participants will walk at a comfortable, self-selected pace over a 10-meter distance. A flying start will be used, allowing 2 meters for acceleration and 2 meters for deceleration outside the timed zone. Walking speed (m/s) is calculated based on the time to complete the central 10-meter distance. |
| 10-Meter Walk Test (10MWT) - maximum walking speed | Baseline, 12 and 24 weeks | Performance outcome in which participants will walk at maximum walking speed over a 10-meter distance. A flying start will be used, allowing 2 meters for acceleration and 2 meters for deceleration outside the timed zone. Walking speed (m/s) is calculated based on the time to complete the central 10-meter distance. |
| Timed Up and Go (TUG) - self-selected walking speed | Baseline, 12 and 24 weeks | Performance outcome in which participants are instructed to stand up from a seated position, walk 3 meters, turn around, walk back, and sit down at at a comfortable, self-selected pace . The time to complete the task is recorded. |
| Falls Efficacy scale - International (Brazilian Portuguese) | Baseline, 12 and 24 weeks | Patient-reported outcome used to assess concern about falling during daily activities in community-dwelling individuals. It consists of 16 items covering functional and participation activities (e.g., sitting/standing from a chair, climbing stairs). Each item is scored from 1 (not at all concerned) to 4 (very concerned), with total scores ranging from 16 to 64. Higher scores indicate greater concern about falling. |
| 36-Item Short Form Health Survey (SF-36) - Brazillian Portuguese | Baseline, 12 and 24 weeks | Generic, patient-reported outcome of health-related quality of life. It consists of 36 items covering multiple domains, including physical functioning, role limitations due to physical health, pain, general health, vitality, social functioning, role limitations due to emotional problems, and mental health. Scores range from 0 to 100, with higher scores indicating better overall health status. |
| Medical Research Council (MRC) Muscle Strength Scale | Baseline, 12 and 24 weeks | Clinician-reported outcome of muscle strength, graded from 0 (no contraction) to 5 (normal strength). Lower limb muscle groups assessed include hip flexors and extensors, hip abductors and adductors, knee flexors and extensors, and ankle dorsiflexors and plantarflexors. |
| Modified Ashworth Scale (MAS) | Baseline, 12 and 24 weeks | Clinician-reported outcome used to assess resistance to passive movement and muscle tone. It is scored on a 5-point scale from 0 (normal muscle tone) to 4 (rigid in flexion or extension). In this study, it will be applied to the hip adductor and knee flexor muscles to assess lower limb spasticity. |
| Patient Global Impression of Change (PGI-C) | Baseline, 12 and 24 weeks | Patient-reported outcome measuring perceived overall improvement or worsening following the intervention. It is a 7-point scale ranging from 1 (very much improved) to 7 (very much worse), capturing the patient's global assessment of change. |
Countries
Brazil
Outcome results
None listed