Mitochondrial disease
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Sint Radboud
Eligibility
Age
2 Years to 17 Years
Inclusion criteria
Inclusion criteria: * 2-17 years old at the inclusion date and * Biochemical group (see paragraph 4.2.2 of the protocol) o mitochondrial dysfunction in muscle biopsy AND a mitochondrial phenotype and/or o a confirmed pathogenic mutation, in case of mtDNA mutation in sufficient heteroplasmy to explain phenotype, agreement on pathogenicity between two physicians working in different centres * Syndromal group (see paragraph 4.2.1 of the protocol) o Fulfilling the criteria of the specific syndrome o A confirmed pathogenic mutation or biochemical defect (only in Leigh)
Exclusion criteria
Exclusion criteria: * Insufficient knowledge of the native language spoken in the hospital the child is seen in * It is expected that the studies will be too burdensome for the patient or the family * End-of-life expected within 3 months from the initiation of the study * Other disabling disease
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Per test, per patient group: * The percentage of patients who were able to complete the test * The inter-rater reliability of one assessor * The intra-rater reliability of two assessors * The test-retest reliability after two weeks * The correlation between parameters pre-specified per disorder (see paragraph 7.1) * The correlation between these parameters over time (including a VAS-score for the patient*s and parents* experience on disease severity and disease progression) | — |
Secondary
| Measure | Time frame |
|---|---|
| Per patient group: * The SD and clinically significant difference (minimal important change; * 2 points difference on the 11-item VAS scale of disease severity of both patient and parents and/ or * 2 point difference on the 11 item VAS-scale of disease progression of both patient and parents in the same direction as the effect of the study parameter) of the two most reliable instruments * The time to complete the inclusion of all patients (calculated from the day the study starts recruiting). * A description of the clinical symptoms, with focus on the functional abilities and challenges * The correlation between the concentration of several biomarkers and functional abilities and general disease severity | — |
Countries
Netherlands
Outcome results
None listed