inherited disease Magnesium deficiency
Conditions
Interventions
None listed
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
12 Years to 99 Years
Inclusion criteria
Inclusion criteria: Being a carrier of the m.4291T>C variant in the mitochondrial DNA.
Exclusion criteria
Exclusion criteria: - Age below 16 years - Lacking competency to make personal medical decisions (in Dutch: *wilsonbekwaam*)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary study parameters are: - Mitochondrial function of patient cells compared to reference values, control cells from healthy unrelated individuals and cells of other affected families (obtained from collaborators) - Response of patients to a thiazide diuretic challenge test compared to the normal population (matched for age and gender) - Fractional excretion of magnesium in patient urine compared to reference values | — |
Secondary
| Measure | Time frame |
|---|---|
| The secondary study parameters are: - The correlation between mitochondrial function of a patient*s fibroblasts and the serum magnesium concentration of the patient - Heteroplasmy level of the mtDNA variant in blood, urine and fibroblasts of participants (i.e. what is the percentage of mtDNA carrying the abnormal variant in different tissues) - Score at NMDAS (Newcastle Mitochondrial Disease Adult Scale), (Schaefer et al., 2006) - Laboratory parameters as listed in Table 1 of the Research protocol. Results will be retrieved from the patient record by the treating physician and pseudonymously shared with the researchers. When the necessary evaluations are not available, blood will be drawn for these laboratory evaluations at Radboudumc. Values will be compared to normal reference values for each analysis. | — |
Countries
Netherlands
Outcome results
None listed