OXPOS deffects resporatoirychain deffects
Conditions
Interventions
Modified Atkins diet
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1. Genetically proven mitochondrial disease 2. Age * 18 years 3. Myopathy: this can be muscle weakness or exercise intolerance. The NMDAS sub score for muscle weakness( NMDAS part III question 5) and/or exercise intolerance (NMDAS part I question 9) of 1 or higher. 4. Good understanding of the Dutch language 5. Able to adhere to the diet for 12 weeks, considering their cognition level and cooking skill 6. Signed informed consent for the healthy controls 1 and 6 + healthy no medication and
Exclusion criteria
Exclusion criteria: 1. Elevated CK levels > 1000 u/l 2. Malnutrition: BMI
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| - Safety Adverse events - Feasibility Number of patients who complete the 12-week intervention - Efficacy VO2max/peak during maximal incremental cycle exercise test Biomarkers by using metabolomic profiling in plasma. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary outcomes safety: blood test for: * glucose (for occurrence hypoglycaemia), * lipid profile: (triglycerides, high-density lipoprotein (HDL), low-density lipoprotein (LDL), total cholesterol), * Uric acid * ALAT * blood gas (including Bi-carbonate, lactate, glucose, natrium and potassium) Secondary outcomes:Feasibility * Number of patients who manage to reach ketone body levels of *2 * Reason of drop out * Carbohydrate intake in food record as a variable for diet adherence * Questions on the feasibility of the diet. Secondary outcomes:Efficacy * Muscle contractile function * Fatigue: CIS fatigue * Quality of life: SF 12 * Headache: diary * Questions on the benefits of the diet. * Activity and energy expendure: Actometer (METS) | — |
Countries
Netherlands
Outcome results
None listed