Table 2.

Projected health and economic outcomes.

Outcomes	Clinically diagnosed and treated	Newborn screening and treated
Health outcomes, infantile-onset
Screening outcomes (or within first year of life for clinically diagnosed)
Cases, infantile-onset with cardiomyopathy	34	34
Cases, infantile-onset without cardiomyopathya	2	6
Proportions with cardiomyopathy, by health state, at age 10
No symptoms	0.00	0.30
Mild symptoms	0.19	0.67
Severe symptoms	0.10	0.00
Dead from Pompe disease	0.70	0.02
Dead from other causes	0.01	0.01
Health outcomes
By age 3
Ventilator dependent, n	7.11	0.53
Deaths, n	6.93	0.00
By age 10
Ventilator dependent, n	4.87	0.17
Deaths, n	11.58	0.00
By age 20
Ventilator dependent, n	4.06	0.32
Deaths, n	14.40	0.02
Disaggregated results among individuals diagnosed with infantile-onset Pompe disease (per person)b
Screening and confirmation costs	NA	$2,388
Enzyme replacement therapy (ERT)	$6,462,230	$10,985,209
Medical, Pompe disease other than ERT	$385,039	$178,834
Medical, non-Pompe disease	$40,731	$72,952
Formal caregiving	$283,564	$26,534
Informal caregiving	$774,734	$428,162
Nonmedical (e.g., appointment time costs and environmental modifications)	$33,318	$44,607
Total costs, health-care sectorc	$7,171,563	$11,265,916
Total costs, societal	$7,979,615	$11,738,685
Mean QALYs	15.01	26.67
Infantile-onset with cardiomyopathy	13.76	26.65
Infantile-onset without cardiomyopathy	22.11	26.79
Summary and disaggregated results for annual US newborn cohort (n = 4,000,000)e
Costs
Screening and confirmation tests	$0	$26,224,278
Enzyme replacement therapy	$258,489,185	$439,408,352
Pompe disease-related medical care	$15,747,528	$7,639,698
Non-Pompe disease-related medical care	$291,659,614,973	$291,660,903,800
Formal caregiving costs	$11,342,569	$1,061,343
Informal caregiving	$30,989,365	$17,126,462
Nonmedical (e.g., appointment time costs and environmental modifications)	$1,875,353	$2,355,840
Total costs (health-care sectorf)	$291,945,194,255	$292,135,237,471
Total costs (societal)	$291,978,058,973	$292,154,719,773
Incremental costs (health-care sector)	—	$190,043,216
Incremental costs (societal)	—	$176,660,800
Total QALYs	121,806,506	121,806,973
Incremental QALYs	—	466
ICERg (health-care sector)	—	$408,000/QALY
ICERg (societal)	—	$379,000/QALY

ICER incremental cost-effectiveness ratio, QALY quality-adjusted life-year.

^aUnder clinical identification, 4 of the 6 cases are anticipated to remain undiagnosed until age 3.

^bAverage per person costs and QALYs. Costs and QALYS discounted at 3%.

^cExcludes informal caregiving and nonmedical costs.

^dWeighted average of two cases treated near birth and four cases treated at age 3.

^eCosts and QALYs are discounted at 3% to 2016 USD.

^fThe health-care sector perspective includes all but nonmedical and informal caregiving costs.

^gICERs were calculated using additional decimal places for incremental QALYs—see Supplementary tables for detailed results.