Table 1 Model inputs.

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

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

  1. CMP cardiomyopathy, QALY quality-adjusted life-year.
  2. aTransition probabilities for each health state and scenario are provided in Table S1 of the supplemental materials.
  3. bThe range in sensitivity and specificity corresponds with a range of 0 to 2,800 potential false positives.
  4. cAll costs were adjusted to 2016 dollars using the Gross Domestic Product Price Deflator.
  5. dCorrespondence with New Jersey, New York, Michigan, and Missouri newborn screening programs.
  6. eSee Table S3b for details.
  7. 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.
  8. 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.
  9. hSee Table S3f for microcosting details. Includes one-time transition costs (e.g., environmental changes and extra medical equipment).
  10. 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
  11. jBased on average hourly wage of $25.71.39
  12. kSee Table S3f for microcosting details. Includes one-time transition costs (gastrostomy, wheelchair equipment, environmental changes).
  13. l8 hours per day, 7 days per week.
  14. m16 hours per day, 7 days a week.
  15. 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.
  16. oIn secondary analysis, additional spillover family disutility was also applied to this health state. Spillover values are given in Table S3g.
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