Table 1 Fifteen rare diseases with potential treatments.

α-Mannosidosis

200

i.v. α-mannosidase

Aspartylglucosaminuria

400

i.v. glycosyl- asparaginase

Galactosialidosis

100

i.v. PPCA

Mucopolysaccharidosis IV A (MPS IVA)

2,000

i.v. GALNS

Mucopolysaccharidosis VII (MPS VII)

200

i.v. β-glucuronidase

GM1 Gangliosidosis

850

oral chaperone N-octyl-4-epi-β-valienamine

Late Infatile Neuronal Ceroid Lipofuscinosis (LINCL)

600

intraventricular TPP1

Metachromatic Leukodystrophy (MLD)

4,000

intrathecal ASA

Mucopolysaccharidosis IIIA (MPS IIIA)

1,300

intra-CSF sulfamidase

Niemann-Pick B

650

i.v. ASM

Lysosomal Acid Lipase Deficiency

(LAL Deficiency)

150

i.v. mannose-6-phosphate terminated LAL

Primary Hyperoxaluria

2,400

oral crystalline oxalate-decarboxylase

Recessive Dystrophic Epidermolysis Bullosa (RDEB)

500

i.d. C7

X-Linked Hypohidrotic Ectodermal Dysplasia

(X-Linked HED)

700

i.v. EDA1

Congenital Disorder of Glycosylation Ib

(CDG-Ib)

100

oral mannose