Table 2 Parameters used in NPV and cost to approval calculations.

α-Mannosidosis

$300,000

6 Minute Walk Test (6MWT) (meters)

12

52

6 mos

6 mos

Urinary Man2GlcNAc (mmol/mol creatinine) measured by HPLC

10

20

3 mos

6 mos

Aspartyl- glycosaminuria

$300,000

6MWT (meters)

12

45

6 mos

6 mos

Urinary aspartylglucosamine (μmol/mmol creatinine)

6

12

3 mos

6 mos

Galactosialidosis

$300,000

6MWT (meters)

12

52

6 mos

6 mos

Urinary oligosaccharides (nmol/mg creatinine)

10

20

3 mos

6 mos

MPS IVA

$300,000

6MWT (meters)

20

52

6 mos

6 mos

Urinary keratan sulfate (ng/g creatinine)

15

30

3 mos

6 mos

MPS VII

$300,000

6MWT (meters)

10

45

6 mos

6 mos

Urinary GAG (μg/mg creatinine)

6

12

3 mos

6 mos

GM1 Gangliosidosis

$120,000

Mullen Scales of Early Learning (MSEL)

20

127

6 mos

1 yr

CSF GM1 ganglioside (pmol/ml)

15

30

3 mos

6 mos

LINCL

$200,000

Modified Hamburg LINCL clinical rating scale

10

30

6 mos

1 yr

CSF neurofilament protein (ng/L)

15

30

3 mos

6 mos

MLD

$200,000

MSEL

20

127

6 mos

1 yr

CSF sulfatide (nmol/L)

10

30

3 mos

6 mos

MPS IIIA

$200,000

MSEL

20

127

6 mos

1 yr

CSF MPS (heparan sulfate)

10

30

3 mos

6 mos

Niemann-Pick B

$300,000

Forced vital capacity (FVC %)

10

30

6 mos

6 mos

Liver size (% change in liver size by MRI)

10

30

6 mos

6 mos

LAL Deficiency

$300,000

Survival

15

30

6 mos

1.5 yrs

Liver size (% change in liver size by MRI)

10

30

6 mos

6 mos

Primary Hyperoxaluria

$300,000

Renal failure

20

183

6 mos

2 yrs

Urinary oxalate (mg/1.73 m²/day)

10

20

3 mos

6 mos

RDEB

$300,000

Hospitalizations

20

61

6 mos

1 yr

Number of anchoring fibrils over 2 × 25 μm of lamina densa

10

30

3 mos

6 mos

X-Linked HED

$100,000

Episodes of severe illness

20

87

6 mos

1 yr

First molar tooth bud presence

10

54

6 mos

6 mos

CDG-Ib

$50,000

Thrombosis

10

30

6 mos

1 yr

Antithrombin III (%)

6

12

6 mos

6 mos