Fabry Exercise Intolerance STudy

Fabry Exercise Intolerance STudy - FEISTY

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON55038

Enrollment

Registered

2021-04-08

Start date

2021-10-18

Completion date

Unknown

Last updated

2026-08-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

angiokeratoma corporis diffusum Fabry disease

Interventions

None listed

Eligibility

Age

18 Years to 64 Years

Inclusion criteria

Inclusion criteria: For FD patients: - Men and women with a definite known diagnosis of FD. For Healthy controls: - Healthy control subjects (men and women) with an age of 18 years or older.

Exclusion criteria

Exclusion criteria: For FD patients: - Pregnancy; - Recent acute myocardial infarction (150 mmHg and Diastolic Blood Pressure > 100 mmHg on repeated measurements); - Using medication mimicking chronotropic incompetence (e.g. beta-blockers) that cannot be ceaed 24h in advance of testing. - Active infection, anaemia, severe renal dysfunction (estimated Glomerular filtration rate 6 alcohol units per day or >14 alcohol units per week.

Design outcomes

Primary

Measure	Time frame
1. Differences in VO2 kinetics between FD patients and healthy control subjects as a readout of exercise capacity. 2. To assess the aetiology of exercise intolerance study parameters and clinical follow-up data (Amsterdam UMC clinical Fabry database) will be used. The following parameters will be taken into account and compared with the healthy control group (NB cardiac imaging will not be performed the control group): - Pulmonary involvement/ bronchial obstruction: Pulmonary function test: abnormal FEV1/VC (Tiffeneau-index) at rest. During maximum CPX test: low VO2 max, anaerobic threshold, low ventilation (VE) reserve, high heart rate (HR) reserve, high CO2 ventilation equivalent (EqCO2) and low O2 saturation O2 (pulse oximetry, SpO2). - Cardiac dysfunction: Cardiac imaging (part of routine clinical follow-up in FD patients): signs on echocardiogram of Heart failure with preserved ejection fraction (HFpEF): low early diastolic mitral annular velocity e* (septal = 9 or tricuspid regurgitation (TR) velocity > 2.8 m/s, global longitudinal strain (GLS) = 29 ml/m2, left ventricular mass index (LVMi) of 115 g/m2 and 95 g/m2 for men and women, respectively, relative wall thickness > 0.42, left ventricular wall thickness >= 12 mm), biochemical: NT-proBNP >= 125 pg/ml (sinus rhythm) and NT-proBNP >= 365 pg/ml (atrial fibrillation). During maximum CPX: low VO2 max, low HR reserve, low Cardiac output (CO) and low anaerobic threshold. High EqCO2 and a O2 pulse plateau. - Skeletal muscle alterations: During maximum CPX: Low VO2 max, low HR reserve, low maximum O2 pulse, low AT. High VE reserve. Muscle biopsy with typical signs of sphingolipid accumulation (electron microscopy) and mitochondrial dysfunction. Signs of muscle atrophy and strength in comparison to the healthy control subjects.	—

Measure

Time frame

1. Differences in V*O2 kinetics between FD patients and healthy control subjects as a readout of exercise capacity. 2. To assess the aetiology of exercise intolerance study parameters and clinical follow-up data (Amsterdam UMC clinical Fabry database) will be used. The following parameters will be taken into account and compared with the healthy control group (NB cardiac imaging will not be performed the control group): - Pulmonary involvement/ bronchial obstruction: Pulmonary function test: abnormal FEV1/VC (Tiffeneau-index) at rest. During maximum CPX test: low V*O2 max, anaerobic threshold, low ventilation (VE) reserve, high heart rate (HR) reserve, high CO2 ventilation equivalent (EqCO2) and low O2 saturation O2 (pulse oximetry, SpO2). - Cardiac dysfunction: Cardiac imaging (part of routine clinical follow-up in FD patients): signs on echocardiogram of Heart failure with preserved ejection fraction (HFpEF): low early diastolic mitral annular velocity e* (septal = 9 or tricuspid regurgitation (TR) velocity > 2.8 m/s, global longitudinal strain (GLS) = 29 ml/m2, left ventricular mass index (LVMi) of 115 g/m2 and 95 g/m2 for men and women, respectively, relative wall thickness > 0.42, left ventricular wall thickness >= 12 mm), biochemical: NT-proBNP >= 125 pg/ml (sinus rhythm) and NT-proBNP >= 365 pg/ml (atrial fibrillation). During maximum CPX: low V*O2 max, low HR reserve, low Cardiac output (CO) and low anaerobic threshold. High EqCO2 and a O2 pulse plateau. - Skeletal muscle alterations: During maximum CPX: Low V*O2 max, low HR reserve, low maximum O2 pulse, low AT. High VE reserve. Muscle biopsy with typical signs of sphingolipid accumulation (electron microscopy) and mitochondrial dysfunction. Signs of muscle atrophy and strength in comparison to the healthy control subjects.

—

Secondary

Measure	Time frame
To determine whether the proposed intermittent exercise test protocol can be used to measure treatment outcome in future studies and to validate if the intermittent exercise test can be useful for clinically meaningful outcomes, one can correlate the VO2 kinetics during intermittent exercise to: 1. VO2 max on the incremental maximum CPX; 2. The activity score on the SQUASH Questionnaire.	—

Countries

Netherlands

Outcome results