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 range18 Years

SexALL

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…

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).

Heart rate reserve (per minute)

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 range18 Years

SexALL

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).

Heart rate reserve (per minute)

Timeframe: During maximum exercise (max 30 min).