Fabry Exercise Intolerance STudy

Recruiting

• Conditions: angiokeratoma corporis diffusum; Fabry disease; 10082206; 10027664

• Registration Number: NL-OMON55038
• Lead Sponsor: Interne Geneeskunde- Endocrinologie en Metabolisme

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 22 July 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 40

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

For FD patients:
- Pregnancy;
- Recent acute myocardial infarction (<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);
- 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 <30 ml/min/1,73m2) likely to significantly impact on exercise
performance;
- In case of visit 2: use of direct or indirect anticoagulants therapy (DOAC or
vitamin K antagonists)

For healthy controls:
- All above mentioned exclusion criteria for FD patients;
- History of reduced lung capacity caused by 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.

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified