Acute Nutritional Ketosis in VLCAD Deficiency: testing the metabolic basis for therapeutic use
- Conditions
- VLCADD10000546metabolic disease
- Registration Number
- NL-OMON44949
- Lead Sponsor
- niversitair Medisch Centrum Groningen
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 6
* Confirmed VLCADD by genetic profiling
* age: 16-65
* contra indications for MRI studies (assessed by standardised questionnaire as previously used in METc 08-267/K. Such as metal implants, vascular clips, eye-implants, metal particles in the eye, tattoos containing iron oxide, suspected pregnancy, refusal to be informed of strucural brain abnormalities that could be detected)
* inability to perform bicycle exercise.
* recent episode of rhabdomyolysis, or treatment for acute renal failure in the past 2
months.
* intercurrent illness which may influence exercise tolerance (anaemia, musculoskeletal
injury, or other undiagnosed illness under investigation).
* known coronary artery disease, positive history for angina, or changes on ECG
suggestive of previous ischaemia without a negative stress test.
* insulin-dependent diabetes mellitus.
* loss of, or an inability to give informed consent.
* pregnancy or current breastfeeding, or females not taking the oral contraceptive pill
* any other cause which in the opinion of the investigators, may affect the volunteers
ability to participate in the study
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>To investigate:<br /><br><br /><br>1. the potential of a novel dietary substrate preparation to enhance muscle<br /><br>mitochondrial function in VLCADD via acute nutritional ketosis.<br /><br><br /><br>2. if tri-citric acid cycle substrate supply in muscle of patients with<br /><br>VLCADDis boosted by acute nutritional ketosis.</p><br>
- Secondary Outcome Measures
Name Time Method <p>nvt</p><br>