Table 1 Effectiveness and cost input variables used in the analysis
Distribution | Distribution parameters | Data source | |
|---|---|---|---|
Epidemiology, prevalence and effectiveness | Base case | ||
Test Specificity (including confirmation by enzyme analysis) | Point estimate | 1 | Assumption |
Test Sensitivity | Triangular | Mode 0.945 (min-max 0.9-0.99) | |
Prevalence based on positive test result | Triangular | Mode: 1 in 112,700, (min-max 1 in 129,455 – 1 in 95,953) | [1] |
Probability of early diagnosis before the onset of sMD | Triangular | Mode 0.15 (min-max 0.12-0.18) | [3] |
Probability that severe movement disorder develops in previously diagnosed children | Triangular | Mode 0.115 (min-max 0.092-0.138) | [1] |
Probability that severe movement disorder occur following clinical manifestation | Triangular | Mode 0.74 (min-max 0.592-0.888) | [28] |
Life expectancy of healthy population | Point estimate | 79.45 years | [29] |
Life expectancy in asymptomatic persons with GA-I | Equal to life expectancy of healthy population | Assumption | |
Life expectancy in impaired health state | Uniform | Min-max 25–45 years | [3] |
Cost Assessment | |||
A) Direct screening cost, including genetic and enzymatic confirmation studies | |||
Initial medical cost for children experiencing an acute encephalopathic crisis | Triangular | Mode 3000 (min-max 2000–8000) | Assumption, based on year 2010 German DRG reimbursement |
Cost for genetic and enzymatic confirmation studies | Point estimate | 865 | Primary data |
Direct screening cost per neonate | Point estimate | 0.031 | Calculated, based on [30] |
B) Cost for medical and dietary treatment in persons with GA-l | |||
Cost per outpatient visit | Triangular | Mode 127 (min-max 88.9 -165.1) | Primary data |
Cost per inpatient treatment | Triangular | Mode 1335 (min-max 934.5 - 1735.5) | Primary data |
Number of outpatient treatments per year | Point estimate | Age-depending | [10] |
Number of inpatient treatments per year | Point estimate | Age-depending | [10] |
Cost for basic dietary treatment per year | Point estimate | Age-depending | [10] |
C) Cost associated with severe movement disorder | |||
Annual cost for special schooling (included for age 6 to 16) | Triangular | Mode 5689 (min-max 0–11369) | Assumption, based on [31] |
Annual cost for special care, starting after age of 6 | Triangular | Mode 2700 (min-max 1890–3510) | Assumption, based on [32] |
Annual overhead cost in case of severe movement disorder | Uniform | Min-max 0-3000 | Assumption |