Table 2 Projected health and economic outcomes.

From: Health and economic outcomes of newborn screening for infantile-onset Pompe disease

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

  1. ICER incremental cost-effectiveness ratio, QALY quality-adjusted life-year.
  2. aUnder clinical identification, 4 of the 6 cases are anticipated to remain undiagnosed until age 3.
  3. bAverage per person costs and QALYs. Costs and QALYS discounted at 3%.
  4. cExcludes informal caregiving and nonmedical costs.
  5. dWeighted average of two cases treated near birth and four cases treated at age 3.
  6. eCosts and QALYs are discounted at 3% to 2016 USD.
  7. fThe health-care sector perspective includes all but nonmedical and informal caregiving costs.
  8. gICERs were calculated using additional decimal places for incremental QALYs—see Supplementary tables for detailed results.
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