Table 1.

Model inputs.

Parameter	Values	Range	Sources
Probabilitiesa
Incidence of Pompe disease (annual, per 100,000)	2.5	1–2.5	35
Screening test characteristicsb
Sensitivity	0.9322	0.9315–0.9329	14
Specificity	0.9999	—
Costsc
Screening test for Pompe disease, per child	$6.40	$6.40–$17.50	Personal communicationd
Genetic and other confirmatory tests for newborns who screen positivee	$2,382	$1,802–$3,300	36
Enzyme replacement therapyf
Age 1	$75,475	$71,828–$117,624	37
Age 5	$135,856	$129,290–$211,723
Age 10	$256,616	$244,214–$399,922
Age 15	$407,567	$387,869–$635,170
Age 25	$483,043	$459,697–$752,794
Age 50	$513,233	$488,428–$799,843
Enzyme replacement deliveryg	$14,300	$10,725–$96,000
Pompe disease, mild symptoms
Direct medical care (all)h	Varies by age	$7,303–$14,257	38
Informal care, annuali	$18,928	$12,915–$18,928	18,39
Appointment time, annualj	$2,160	—
Pompe disease, severe symptoms
Direct medical care (all)k	Varies by age	$84,367–$90,476	38
Formal carel	$87,360	$57,512–$87,360	40
Informal carem	$151,424	$103,318–$151,424	18,39
Medical, non-Pompe disease related	Varies by age	$1,162–$6,014	41
Watchful waitingn	$437	—	36,42
Quality adjustments, health utilitieso
Mild symptoms with Pompe disease, <18 years	0.799	0.750–0.844	43
Mild symptoms with Pompe disease, ≥18 years	0.853	0.811–0.892
Severe symptoms with Pompe disease, 0–1 years	0.399	0.341–0.457
Severe symptoms with Pompe disease, 2–17 years	0.466	0.407–0.525
Severe symptoms with Pompe disease, ≥18 years	0.536	0.480–0.594
QALY loss due to transient positive screen	−0.0005	—	44

CMP cardiomyopathy, QALY quality-adjusted life-year.

^aTransition probabilities for each health state and scenario are provided in Table S1 of the supplemental materials.

^bThe range in sensitivity and specificity corresponds with a range of 0 to 2,800 potential false positives.

^cAll costs were adjusted to 2016 dollars using the Gross Domestic Product Price Deflator.

^dCorrespondence with New Jersey, New York, Michigan, and Missouri newborn screening programs.

^eSee Table S3b for details.

^fAll individuals with confirmed infantile-onset Pompe were assumed to begin receiving 20 mg/kg of alglucosidase alfa every other week at diagnosis (mean = 22 days of life). Redbook wholesale acquisition cost with a 23% discount was used for the base case. A one-time cost of $7,594 for immune tolerance induction was also applied in the first year of life to 25% of those with infantile-onset Pompe disease and cardiomyopathy. For additional details, see Table S3d.

^gEnzyme replacement therapy (ERT) infusion lasts 6 hours; first year 50–75% at home; after that 100% at home; see supplementary tables for additional details.

^hSee Table S3f for microcosting details. Includes one-time transition costs (e.g., environmental changes and extra medical equipment).

ⁱ14 hours of informal care per week, similar to what is reported by Kanters et al.¹⁸ multiplied by average hourly wage of $25.71.³⁹

^jBased on average hourly wage of $25.71.³⁹

^kSee Table S3f for microcosting details. Includes one-time transition costs (gastrostomy, wheelchair equipment, environmental changes).

^l8 hours per day, 7 days per week.

^m16 hours per day, 7 days a week.

ⁿAdditional health-care utilization for patients diagnosed with Pompe disease but without symptoms, annual estimate: one additional outpatient visit; lab work including creatine kinase-MB, comprehensive panel, and urine hex4. There is an additional $51 cost for appointment time.

^oIn secondary analysis, additional spillover family disutility was also applied to this health state. Spillover values are given in Table S3g.