Table 1

Orphan Medicinal Products for lysosomal storage disorders

Lysosomal storage disorder (ordered by date of orphan drug designation of 1st drug)

Range of birth prevalence per 100.000 [ref]*

Estimated mean prevalence*


Orphan drug designation

Fabry disease

2.7 [7]

1 in 37.000**



1-deoxy- galactonojirimycin hydrochloride

Gaucher disease

1.16-1.75 [4-6]

1 in 70.000




Taliglucerase alfa

Eliglustat tartrate## Isofagomine tartrate

MPS IH+IS (Hurler/Scheie)

1.14-1.33 [4-6]

1 in 80.000


Glycogen Storage Disease type II (Pompe's disease)

0.17-2.0 [4-6]

1 in 90.000


Rec. adeno-associated viral vector containing human acid alpha-glucosidase-gene

Mucopolysaccharidosis type VI (Maroteaux-Lamy)

0.15-0.43 [4-6]

1 in 300.000


Mucopolysaccharidosis type II (Hunter syndrome)

0.67-1.09 [4-6]

1 in 120.000


Niemann Pick disease type B

0.10 [6]

1 in 1.000.000

Rec. human acid sphingomyelinase

Metachromatic Leukodystrophy

1.09-1.85 [4-6]

1 in 70.000

Autologous CD34+ cells transfected with lentiviral vector containing human arylsulfatase A cDNA

Rec.Human Arylsulfatase A

Niemann-Pick Disease, type C

0.35-2.20 [4-6]

1 in 100.000


Mucopolysaccharidosis, type IIIA (Sanfilippo A syndrome)

0-1.16 [4-6]

1 in 150.000

Recombinant human heparan-N-sulfatase

Mucopolysaccharidosis, type IVA (Morquio A Syndrome)

0.22-0.6 [4-6]

1 in 250.000

N-terminal hexaglutamine-tagged rec. human N-acetyl galactosamine-6-sulfate sulfatase

Rec. human N-acetylgalactosamine-6-sulfatase

*Birth prevalence values are based upon literature references 4-7, as summarized by Pinto et al [6]. Lowest and highest prevalence values are given (range). The mean prevalence is estimated from these numbers. ** Recent studies point to an increase in birth prevalence of classical Fabry disease [7]. #Cerezyme was licensed before 2000, and is officially not an OMP. ## Eliglustat tartrate has and OD designation as (1R,2R)-octanoic acid[2-(2',3'-dihydro-benzo[1,4] dioxin-6'-yl)-2-hydroxy- 1-pyrrolidin-1-ylmethyl-ethyl]-amide-L-tartaric acid salt. Rec = recombinant

Hollak et al. Orphanet Journal of Rare Diseases 2011 6:16   doi:10.1186/1750-1172-6-16

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