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* | Authorized | Orphan drug designation | ||||
|---|---|---|---|---|---|---|---|---|
| Fabry disease | 2.7 [7] | 1 in 37.000** | Replagal | Fabrazyme | 1-deoxy- galactonojirimycin hydrochloride | |||
| Gaucher disease | 1.16-1.75 [4-6] | 1 in 70.000 | Cerezyme# | Zavesca | Vpriv | Taliglucerase alfa | Eliglustat tartrate## Isofagomine tartrate | |
| MPS IH+IS (Hurler/Scheie) | 1.14-1.33 [4-6] | 1 in 80.000 | Aldurazyme | |||||
| Glycogen Storage Disease type II (Pompe's disease) | 0.17-2.0 [4-6] | 1 in 90.000 | Myozyme | 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 | Naglazyme | |||||
| Mucopolysaccharidosis type II (Hunter syndrome) | 0.67-1.09 [4-6] | 1 in 120.000 | Elaprase | |||||
| Niemann Pick disease type B | 0.10 [6] | 1 in 1.000.000 | Rec. human acid sphingomyelinase | |||||
| Metachromatic Leukodystrophy | 1.09-1.85 [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 | Zavesca | |||||
| 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