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

J.M. Heard*, C. Vrinten, M. Schlander, C.M. Bellettato, C. van Lingen, M. Scarpa, G. Matthijs, M.C. Nassogne, F.G. Debray, D. Roland, T. Chamova, V. Kozich, J. Pavel, M. Zenker, C. Lampe, A.M. Das, J. Hennermann, S. Kolker, N. Weinhold, K. MohnikeS. Gruenert, A.M. Lund, M. Morales-Conejo, M. del Toro-Riera, L. Aldamiz-Echevarria, M.T. Garcia-Silva, M. Schiff, L. Gouya, P. Labrune, P. de Lonlay, N. Belmatoug, D.P. Germain, A. Cano, D. Dobbelaere, S. Jones, C. Dawson, P. Deegan, S. Santra, S. Vijay, D.P. Ramadza, I. Baric, T. Zigman, G. Pflieger, K. Szakszon, R. Kaposta, S. Gasperini, A. Burlina, G. Parenti, P. Strisciuglio, G. Ceccarini, MetabERN collaboration group, Maria Estela Rubio Gozalbo

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Background The European Medicine Agency granted marketing approval to 164 orphan medicinal products for rare diseases, among which 28 products intended for the treatment of hereditary metabolic diseases. Taking advantage of its privileged connection with 69 healthcare centres of excellence in this field, MetabERN, the European Reference Network for hereditary metabolic diseases, performed a survey asking health care providers from 18 European countries whether these products are available on the market, reimbursed and therefore accessible for prescription, and actually delivered in their centre. Results Responses received from 52 centres (75%) concerned the design of treatment plans, the access to marketed products, and the barriers to delivery. Treatment options are always discussed with patients, who are often involved in their treatment plan. Most products (26/28) are available in most countries (15/18). Among the 15 broadly accessible products (88.5% of the centres), 9 are delivered to most patients (mean 70.1%), and the others to only few (16.5%). Among the 10 less accessible products (40.2% of the centres), 6 are delivered to many patients (66.7%), and 4 are rarely used (6.3%). Information was missing for 3 products. Delay between prescription and delivery is on average one month. Beside the lack of availability or accessibility, the most frequent reasons for not prescribing a treatment are patients' clinical status, characteristic, and personal choice. Conclusions Data collected from health care providers in the MetabERN network indicate that two-third of the orphan medicines approved by EMA for the treatment of hereditary metabolic diseases are accessible to treating patients, although often less than one-half of the patients with the relevant conditions actually received the approved product to treat their disease. Thus, in spite of the remarkable achievement of many products, patients concerned by EMA-approved orphan medicinal products have persistent unmet needs, which deserve consideration. The enormous investments made by the companies to develop products, and the high financial burden for the Member States to purchase these products emphasize the importance of a scrupulous appreciation of treatment value involving all stakeholders at early stage of development, before marketing authorization, and during follow up.
Original languageEnglish
Article number3
Number of pages10
JournalOrphanet Journal of Rare Diseases
Issue number1
Publication statusPublished - 6 Jan 2020


  • access to treatment
  • drugs
  • european reference network
  • hereditary metabolic diseases
  • inborn errors of metabolism
  • orphan medicinal product
  • Hereditary Metabolic Diseases
  • Access to treatment
  • Inborn errors of metabolism
  • Orphan medicinal product
  • European Reference Network

Cite this