Table 1.
Accessibility and prescription of EMA-approved OMPs for HMDs in the MetabERN centres
| Active substance | Trade name | Accessibilitya | Indication | Number of patients in MetabERN b | |||
|---|---|---|---|---|---|---|---|
| National | Centre | Total (in 2017) | Treated (in 2018) | Estimated proportion | |||
| Carglumic acid | Carbaglu Ucedane | 83% | 81% | Organic aciduria | 530 | 87 | < 1/3 |
| Glycerol Phenylbutyrate | Ravicti | 63% | 59% | Urea cycle | 785 | 115 | < 1/3 |
| Sodium Phenylbutyrate | Buphenyl Ammonaps | 85% | 82% | 379 | > 1/3 | ||
| Sapropterin | Kuvan | 78% | 76% | PKU | 4539 | 365 | < 1/3 |
| Nitisinone | Nitisinone Nytir Orfadin | 85% | 80% | Tyrosinemia | 208 | 257 | > 1/3 |
| Cholic acid | Cholbam Orphacol | 52% | 50% | Bile acid synthesis type 1 | – | 11 | – |
| Chenodeoxycholic acid | Chenodeoxycholic acid Leadiant | 65% | 57% | Cerebrotendinous Xanthomtosis | 25 | 47 | > 1/3 |
| Alipogene tiparvovec | Glybera | 17% | 15% | Lipoprotein lipase deficiency | 30 | 0 | < 1/3 |
| Cysteamine hydrochl.oride | Cystadrops | 52% | 43% | Cystinosis | 87 | 41 | > 1/3 |
| Cysteamine bitartrate | Cystagon | 61% | 59% | 73 | > 1/3 | ||
| Migalastat | Galafold | 76% | 70% | Fabry disease | 1361 | 76 | < 1/3 |
| Agalsidase alpha | Replagal | 87% | 87% | 521 | > 1/3 | ||
| Agalsidase beta | Fabrazyme | 89% | 89% | 376 | < 1/3 | ||
| Eliglustat | Cerdelga | 81% | 72% | Gaucher disease | 641 | 125 | < 1/3 |
| Imiglucerase | Cerezyme | 89% | 83% | 273 | > 1/3 | ||
| Velaglucerase | VPRIV | 87% | 80% | 142 | < 1/3 | ||
| Miglustat | Zavesca | 94% | 93% | NPC | 188 | 99 | > 1/3 |
| Sebelipase alpha | Kanuma | 63% | 52% | Wolman disease | 58 | 39 | > 1/3 |
| Cerliponase | Brineura | 43% | 35% | CNL2 | 17 | 10 | > 1/3 |
| Alglucosidase alpha | Myozyme | 87% | 81% | Pompe disease | 268 | 305 | > 1/3 |
| Laronidase | Aldurazyme | 87% | 81% | MPS I | 302 | 153 | > 1/3 |
| Idursulfase | Elaprase | 89% | 83% | MPS II | 193 | 146 | > 1/3 |
| Elosulfase | Vimizin | 67% | 57% | MPS IVa | 198 | 112 | > 1/3 |
| Galsulfase | Naglazyme | 76% | 74% | MPS VI | 117 | 107 | > 1/3 |
| ADA CD34+ cells | Strimvelis | 18% | 9% | SCID, ADA deficiency | 9 | 0 | < 1/3 |
| Idebenone | Mnesis, Raxone | 80% | 70% | Leber Hereditary Optic Neuropathy (LHON) | – | 85 | – |
| Afamelanotide | Scenesse | 26% | 15% | Erythropoietic. Protoporphyria (EPP) | 281 | 128 | > 1/3 |
| Asfotase alpha | Strensiq | 46% | 30% | Hypophosphatasia. | – | 5 | – |
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
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