UnknownNot Applicable

Fabry Exercise Intolerance Study

Netherlands30 participantsStarted 2021-10-10

Plain-language summary

Patients and healthy controls will undergo cardiopulmonary exercises and testing of the muscles strength to gain additional understanding of exercise intolerance as Fabry disease (FD) manifestation. An additional needle muscle biopsy may be performed. Tissue analysis from this biopsy will include evaluation of the lipidomics profile and mitochondrial function. Results of the tests and any potential exercise intolerance will be compared against healthy, age-, sex- and BMI-matched volunteers. The hypothesis is that patients with FD will have reduced exercise capacity due to changes in skeletal and cardiac muscle energy metabolism.

Who can participate

Age range

18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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 exerc…

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Differences in V'O2 max kinetics (ml/kg/min)

Timeframe: At rest (baseline) and after maximum CPX test (30 min)

Tiffeneau-index (FEV1/IVC ratio)

Timeframe: At rest (baseline)

Anaerobic threshold (ml/kg/min)

Timeframe: During maximum exercise (max 30 min).

Ventilation reserve (L)

Timeframe: During maximum exercise (max 30 min).

CO2 ventilation equivalent (L/L)

Timeframe: During maximum exercise (max 30 min).

O2 saturation (%)

Timeframe: During maximum exercise (max 30 min).

Cardiac Output (L/min)

Timeframe: During maximum exercise (max 30 min).

Trial details

NCT IDNCT05413876

SponsorAcademisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2024-01-02

Contact for this trial

Bram Veldman, MD

0031205666791 b.c.f.veldman@amsterdamumc.nl

View on ClinicalTrials.gov More Fabry Disease trials

Plain-language summary

Who can participate

Age range

18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Differences in V'O2 max kinetics (ml/kg/min)

Timeframe: At rest (baseline) and after maximum CPX test (30 min)

Tiffeneau-index (FEV1/IVC ratio)

Timeframe: At rest (baseline)

Anaerobic threshold (ml/kg/min)

Timeframe: During maximum exercise (max 30 min).

Ventilation reserve (L)

Timeframe: During maximum exercise (max 30 min).

CO2 ventilation equivalent (L/L)

Timeframe: During maximum exercise (max 30 min).

O2 saturation (%)

Timeframe: During maximum exercise (max 30 min).

Cardiac Output (L/min)

Timeframe: During maximum exercise (max 30 min).