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Table 1 Accessibility and prescription of EMA-approved OMPs for HMDs in the MetabERN centres

From: Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

Active substanceTrade nameAccessibilityaIndicationNumber of patients in MetabERN b
NationalCentreTotal (in 2017)Treated (in 2018)Estimated proportion
Carglumic acidCarbaglu Ucedane83%81%Organic aciduria53087<  1/3
Glycerol PhenylbutyrateRavicti63%59%Urea cycle785115<  1/3
Sodium PhenylbutyrateBuphenyl Ammonaps85%82%379>  1/3
SapropterinKuvan78%76%PKU4539365<  1/3
NitisinoneNitisinone Nytir Orfadin85%80%Tyrosinemia208257>  1/3
Cholic acidCholbam Orphacol52%50%Bile acid synthesis type 111
Chenodeoxycholic acidChenodeoxycholic acid Leadiant65%57%Cerebrotendinous Xanthomtosis2547>  1/3
Alipogene tiparvovecGlybera17%15%Lipoprotein lipase deficiency300<  1/3
Cysteamine hydrochl.orideCystadrops52%43%Cystinosis8741>  1/3
Cysteamine bitartrateCystagon61%59%73>  1/3
MigalastatGalafold76%70%Fabry disease136176<  1/3
Agalsidase alphaReplagal87%87%521>  1/3
Agalsidase betaFabrazyme89%89%376<  1/3
EliglustatCerdelga81%72%Gaucher disease641125<  1/3
ImigluceraseCerezyme89%83%273>  1/3
VelagluceraseVPRIV87%80%142<  1/3
MiglustatZavesca94%93%NPC18899>  1/3
Sebelipase alphaKanuma63%52%Wolman disease5839>  1/3
CerliponaseBrineura43%35%CNL21710>  1/3
Alglucosidase alphaMyozyme87%81%Pompe disease268305>  1/3
LaronidaseAldurazyme87%81%MPS I302153>  1/3
IdursulfaseElaprase89%83%MPS II193146>  1/3
ElosulfaseVimizin67%57%MPS IVa198112>  1/3
GalsulfaseNaglazyme76%74%MPS VI117107>  1/3
ADA CD34+ cellsStrimvelis18%9%SCID, ADA deficiency90<  1/3
IdebenoneMnesis, Raxone80%70%Leber Hereditary Optic Neuropathy (LHON)85
AfamelanotideScenesse26%15%Erythropoietic. Protoporphyria (EPP)281128>  1/3
Asfotase alphaStrensiq46%30%Hypophosphatasia.5
  1. a Accessibility is indicated as the percentage of respondents declaring that the considered product is accessible for prescription in the country (National), or in the centre (Centre) where they practice
  2. b At the time the MetabERN network was launched (2017), the participating centres provided information about the numbers of patients with each individual HMD they followed. The numbers of patients followed in the centres that responded to the current survey was established accordingly, giving a gross estimation of the number of patients who were potential candidates to receiving the indicated treatment in the responding centres in 2017 (this information is missing for bile acid synthesis type 1 defects, hypophosphatasia, and Leber hereditary optic neuropathy). The number of patients receiving the listed products in these centres in 2018 was declared by HCPs in response to the current survey. Data were received from 15 among the 18 participating countries, with the exceptions of NO and SE. For 3 products (Nitisinone, Chenodeoxycholic acid and Alglucosidase alpha) the declared number of patients treated in 2018 is higher than the number of patients followed in the centres in 2017. A gross estimation of the proportion of treated patients is indicated as being either lower, or higher than one-third of the total number of patients with the relevant condition