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This study will evaluate whether a 12-week physiotherapy and exercise program can improve physical function and quality of life in patients with Anderson-Fabry disease. Participants will complete assessments before and after the program. The intervention includes regular exercise sessions using body weight, resistance bands, and gradual increases in daily physical activity. The study is intended to determine whether a structured physiotherapy program is feasible and potentially beneficial for people living with Anderson-Fabry disease.
Anderson-Fabry disease is a rare X-linked lysosomal storage disorder associated with multisystem involvement, reduced exercise tolerance, fatigue, pain, and impaired quality of life. Evidence regarding the effects of structured physiotherapy and exercise interventions in this patient population remains limited.
The aim of this study is to evaluate the feasibility and potential clinical benefit of a 12-week targeted physiotherapy intervention in patients with Anderson-Fabry disease. Participants will undergo baseline and post-intervention assessment focused on physical fitness, functional performance, and patient-reported outcomes.
The intervention will consist of 45-minute exercise sessions performed three times per week over 12 weeks. The program will combine aerobic and strengthening exercise using body weight and resistance bands and will include a gradual increase in daily step count. Adherence to the intervention will be monitored throughout the study.
The study is intended to assess whether a structured physiotherapy program may improve physical function and quality of life in patients with Anderson-Fabry disease and to provide data to support future rehabilitation recommendations in this population.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Physiotherapy intervention | Experimental | Participants will receive a 12-week targeted physiotherapy and exercise intervention consisting of 45-minute sessions performed three times per week and increasing number of daily steps. The program combines aerobic and strengthening exercise, including body weight exercises, resistance band training, and a gradual increase in daily step count. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Physiotherapy exercise programe | Behavioral | A 12-week physiotherapy and exercise program consisting of 45-minute sessions performed three times per week and gradual increase in daily step count by approximately 10 percent every 2 weeks. The intervention combines aerobic and strengthening components, including body weight exercises and resistance band training, together with counting of daily steps. Adherence is monitored using exercise diaries and regular follow-up during therapy sessions. |
| Measure | Description | Time Frame |
|---|---|---|
| Change in cardiorespiratory fitness | Change in cardiorespiratory fitness assessed by ergospirometry before and after the 12-week targeted physiotherapy intervention. | Baseline and after 12 weeks |
| Measure | Description | Time Frame |
|---|---|---|
| Change in muscle strength | Change in muscle strength assessed by hand grip strength testing before and after the intervention. | Baseline and after 12 weeks |
| Change in functional capacity measured by the 6-minute walk test |
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Inclusion Criteria:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| General University Hospital | Prague | 19800 | Czechia |
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| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| D009043 | Motor Activity |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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All enrolled participants will receive the same 12-week exercise intervention. Outcomes will be assessed before and after the intervention.
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|
Change in walking capacity assessed by the 6-minute walk test before and after the intervention.
| Baseline and after 12 weeks |
| Change in functional performance measured by the 30-second chair stand test | Change in lower-extremity functional performance assessed by the 30-second chair stand test before and after the intervention. | Baseline and after 12 weeks |
| Change in respiratory function | Change in respiratory function assessed by body plethysmography before and after the intervention. | Baseline and after 12 weeks |
| Change in health-related quality of life | Change in health-related quality of life assessed by the SF-36 questionnaire before and after the intervention. | Baseline and after 12 weeks |
| Change in anxiety and depressive symptoms | Change in anxiety and depressive symptoms assessed by the Hospital Anxiety and Depression Scale (HADS) before and after the intervention. | Baseline and after 12 weeks |
| Change in self-reported physical activity | Change in self-reported physical activity assessed by the International Physical Activity Questionnaire (IPAQ)-based questionnaire before and after the intervention. | Baseline and after 12 weeks |
| Change in body composition | Change in body composition assessed by InBody analysis before and after the intervention. | Baseline and after 12 weeks |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
| D001519 | Behavior |