Lysosomal storage disorder (ordered by date of orphan drug designation of 1stdrug) | Range of birth prevalence per 100.000 [ref]* | Estimated mean prevalence* | Authorized | Orphan drug designation | ||||
---|---|---|---|---|---|---|---|---|
Fabry disease | 2.7 [7] | 1 in 37.000** | Replagal | Fabrazyme | 1-deoxy- galactonojirimycin hydrochloride | |||
Gaucher disease | 1 in 70.000 | Cerezyme# | Zavesca | Vpriv | Taliglucerase alfa | Eliglustat tartrate## Isofagomine tartrate | ||
MPS IH+IS (Hurler/Scheie) | 1 in 80.000 | Aldurazyme | ||||||
Glycogen Storage Disease type II (Pompe's disease) | 1 in 90.000 | Myozyme | Rec. adeno-associated viral vector containing human acid alpha-glucosidase-gene | |||||
Mucopolysaccharidosis type VI (Maroteaux-Lamy) | 1 in 300.000 | Naglazyme | ||||||
Mucopolysaccharidosis type II (Hunter syndrome) | 1 in 120.000 | Elaprase | ||||||
Niemann Pick disease type B | 0.10 [6] | 1 in 1.000.000 | Rec. human acid sphingomyelinase | |||||
Metachromatic Leukodystrophy | 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 | 1 in 100.000 | Zavesca | ||||||
Mucopolysaccharidosis, type IIIA (Sanfilippo A syndrome) | 1 in 150.000 | Recombinant human heparan-N-sulfatase | ||||||
Mucopolysaccharidosis, type IVA (Morquio A Syndrome) | 1 in 250.000 | N-terminal hexaglutamine-tagged rec. human N-acetyl galactosamine-6-sulfate sulfatase | Rec. human N-acetylgalactosamine-6-sulfatase |