Exercise intolerance in long-chain fatty acid oxidation disorders
- Conditions
- long-chain fatty acid oxidation disorder10013317lcfaod
- Registration Number
- NL-OMON53291
- Lead Sponsor
- Amsterdam UMC
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Pending
- Sex
- Not specified
- Target Recruitment
- 50
LC-FAOD patients:
- Men and women (age >=18 years) with a confirmed diagnosis of carnitine
palmitoyltransferase 2 (CPT2) deficiency, Carnitine-acylcarnitine translocase
(CACT) deficiency, Mitochondrial Trifunctional protein (MTP) deficiency,
Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency or Long-chain
3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
Healthy control subjects:
- Healthy men and women age >= 18 years
-LcFAOD patients: - Pregnancy - Recent acute myocardial infarction (>6
months prior to inclusion) - Uncontrolled arrhythmia/severe conduction disorder
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, anemia, severe renal dysfunction (estimated Glomerular filtration
rate <30 ml/min/1,73m2), or other chronic disease likely to significantly
impact exercise performance - History of severe asthma or chronic obstructive
pulmonary disease - Active use of medication likely to affect exercise
tolerance Healthy control subjects: - All abovementioned exclusion criteria for
LcFOAD patients - History of smoking - History of asthma, chronic obstructive
pulmonary disease, heart failure, heart surgery, heart rhythm disorders or
congenital heart diseases - Chronic illness (including orthopedic,
endocrinological, hematological, 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 non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method