Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders

Table 1 Orphan Medicinal Products for lysosomal storage disorders

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

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