Understanding exercise intolerance in Fabry disease
Fabry Exercise Intolerance Study (FEISTY)
This study is testing how exercise affects people with Fabry disease by comparing their muscle and heart function to healthy individuals to see if energy problems are causing their exercise difficulties.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA) Academic / other |
| Locations | 1 site (Amsterdam) |
| Trial ID | NCT05413876 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate exercise intolerance in patients with Fabry disease by conducting cardiopulmonary exercise tests and muscle strength assessments. Patients will undergo a needle muscle biopsy for tissue analysis, focusing on lipidomics and mitochondrial function. The results will be compared to healthy controls matched by age, sex, and BMI to better understand the energy metabolism changes in skeletal and cardiac muscles associated with Fabry disease. The study hypothesizes that exercise intolerance is linked to early disturbances in energy metabolism as the disease progresses.
Who should consider this trial
Good fit: Ideal candidates include men and women diagnosed with Fabry disease, as well as healthy individuals aged 18 and older for comparison.
Not a fit: Patients with recent acute myocardial infarction, uncontrolled arrhythmias, or severe renal dysfunction may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of exercise intolerance in Fabry disease patients.
How similar studies have performed: While studies on exercise intolerance in other conditions exist, this specific approach to Fabry disease is novel and has not been extensively tested.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * FD patients: Men and women with a definite known diagnosis of FD. * Healthy controls: Healthy control subjects (men and women) with an age of 18 years of older. Exclusion Criteria: FD patients: * Pregnancy * Recent acute myocardial infarct (\<6 months) * Uncontrolled arrhythmia/severe conduction disorder (atrial fibrillation or second/third-degree AV block) causing hemodynamic compromise * Implantable pacemaker or other cardiac device with complete ventricular pacing * Uncontrolled heart failure with hemodynamic compromise * Uncontrolled hypertension (Systolic Blood Pressure \>150 mmHg and Diastolic Blood Pressure \>100 mmHg on repeated measurements) * Active infection, anaemia, severe renal dysfunction (estimated Glomerular filtration rate \<30 ml/min/1,73m2) likely to significantly impact on exercise performance * In some cases: use of anticoagulants or anti platelet therapy (see study procedure) Healthy controls: * All abovementioned exclusion criteria for FD patients * History of smoking * History of active drug use which can affect exercise intolerance * History of asthma, chronic obstructive pulmonary disease, heart failure, heart surgery, heart rhythm disorders or congenital heart diseases * Use of chronic medication likely to affect exercise tolerance * Chronic illness (including orthopaedic, endocrinological, haematological, malignant, gastrointestinal, neurological, muscle or inflammatory disorders) likely to significantly impact on exercise performance * \>6 alcohol units per day or \>14 alcohol units per week
Where this trial is running
Amsterdam
- Amsterdam UMC, location AMC — Amsterdam, Netherlands (Recruiting)
Study contacts
- Study coordinator: Bram Veldman, MD
- Email: b.c.f.veldman@amsterdamumc.nl
- Phone: 0031205666791
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.