Table 3 Study and participant characteristics
Study | Study country | Study description and date of trial / study | Population | Intervention / Comparator(s) | Study / treatment duration | Number of participants | Age: minimum, maximum and mean (SD) | Sex |
|---|---|---|---|---|---|---|---|---|
HRQoL studies | ||||||||
Eom and Lee [12] | Korea | Cross-sectional study of patients recruited at the authors' institution March 2006 to February 2013 | Paediatric patients with mitochondrial diseases and with the results of a neuropsychological evaluation | Intervention: NR Comparator: None | NR | 70 whole sample 11 eligible patients 16 eligible mothers of these patients for total parenting stress 12 eligible mothers of these patients for maternal depression | 0, 9.9 1.8 (2.5) mean age at the first symptom. Data not available for eligible population | 40 boys (57%). Data not available for the eligible population |
Hendrix et al. [18] | Netherlands | A retrospective cohort study including all mitochondrial disease patients who were referred to the Radboud Center for Mitochondrial Medicine between February 2014 and June 2020 All data were retrieved from the electronic patient record system from the natural history study of mitochondrial disease | Patients with mitochondrial diseases | Intervention: NR Comparator: NA | Not relevant | 200 whole sample 17 eligible for current analysis | Minimum and maximum: NR Median (IQR) age: Whole sample: 45 (37–57) Eligible MERRF sample: 43 (39–52) | Whole sample: 72 males (36%) Eligible MERRF sample: 5 males (29.4%) |
Koene et al. [15] | Multi-country: The Netherlands, South Africa, China (Hong Kong), Germany, USA | Multicentre study to test the feasibility, construct validity and reliability of the IPMDS Date NR | A clinically, biochemically, and genetically heterogeneous group of children and adolescents with mitochondrial diseases | Intervention: NR Comparator: None | Not relevant | 17 whole sample 3 eligible for current analysis | 1.6, 16 Mean age whole sample: 9.92 years Eligible sample: Male 1 was 2 years; male 2 was 12 years; and male 3 was 12 years | Whole sample: 9 males Eligible sample: 3 males |
Koga et al. [14] | Japan | Pilot prospective, single-centre, exploratory, clinical study 2005–2015 | Mitochondrial diseases | Intervention: SP Comparator: None | 48 weeks | 11 whole sample 3 eligible for current analysis | 16, 62 Median age whole sample: 34.2 years Eligible sample: Age at start of the study: male was 18 years; female 1 was 22 years; and female 2 was 20 years | Whole sample: 6 males, 5 females Eligible: 2 females, 1 male |
Li et al. [16] | China | A study (consecutive enrolment) of patients with PMDs and non-mitochondrial disorders enrolled at the neurology department of Children’s Hospital of Chongqing Medical University from 2015 to 2019 | Patients with PMDs and non-mitochondrial disorders | Intervention: NR Comparator: NA | Not relevant | 51 patients with PMDs 2 eligible patients | Minimum and maximum for patients with PMDs: 11 months, 96 months Median age Patients with PMDs: 36 months Eligible patient 1: 108 months Eligible patient 2: 101 months | Patients with PMDs M:F ratio = 1:0.7 Eligible MERRF sample: 2 females |
van Kempen et al. [17] | Netherlands | A retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss. Patients were recruited at the Radboud Center of Mitochondrial Medicine between 2015 and 2020 | Patients with mitochondrial diseases | Intervention: NR Comparator: NA | Not relevant | 62 whole sample 17 patients eligible for current analysis | Whole sample: 18, 66 Mean age: 43 years (SD: 13) Eligible MERRF sample: 7 patients (41.2%) aged 21–40; 9 patients (52.9%) aged 41–60); and 1 patient (5.9%) aged 61–80 | Whole sample: 22 males (35.5%) and 40 females (64.5%) Eligible MERRF sample: 5 males (29.4%) and 12 females (70.6%) |
Wang et al. [13] | China | Cohort of case series with 181 cases of genetically diagnosed Leigh/Leigh-like syndrome 2012–2019 | Leigh/Leigh-like syndrome and HIBCH mutations | Intervention: Pharmacologic therapy: Antioxidants and OXPHOS complex cofactors including L-carnitine coenzyme Q10, thiamine and riboflavin, additionally including some symptomatic drugs, such as levetiracetam, or baclofen Adopting a valine-restricted diet Comparator: None | 1 year | 8 whole sample 3 eligible for current analysis | 1, 5.7 Whole sample median: 2 years (age at diagnosis) Eligible sample: male 1 was 5 years 8 months; male 2 was 4 years; and male 3 was 1 year 2 months (age at diagnosis) | Whole sample: 4 males and 4 females Eligible: 3 males |
Healthcare resource use studies | ||||||||
Eom et al. [19] | Korea | Retrospective review of medical records of paediatric patients at the authors' hospital 2006–2015 | Paediatric patients (aged less than 15 years) who were diagnosed with mitochondrial disease | Intervention: NR Comparator: None | Until patient discharge/death | 31 patients with mitochondrial diseases and early death (included in the "cause of death analysis") of 221 eligible patients Leigh syndrome: 15 (48%) MELAS: 2 (7%) Non-specific mitochondrial disease: 14 (45%) | 0, 7.9 Mean age at onset of symptoms: 1.8 (2.0) | 17 boys (55%) |
Shimizu et al. [20] | Japan | Case report Date NR | A woman diagnosed with MELAS admitted to a Japanese hospital with impaired consciousness and myoclonus | Intervention: Propofol, midazolam Comparator: None | Until patient discharge/death | 1 (case report) | 24 | Female |
Yesilbas et al. [21] | Turkey | Case report Date NR | A male patient who was referred to a paediatric intensive care unit with altered mental state, seizures, and vision loss. The patient was diagnosed with MELAS on the eighth day of hospitalisation | Intervention: The patient was extubated and non-invasive mechanical ventilatory support was initiated at the end of the third day after MELAS-specific therapies were initiated Comparator: None | Until patient discharge | 1 (case report) | 12 | Male |