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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

Journal article
Authors 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. Mohnike
S. 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. Aigman
G. Pflieger
K. Szakszon
R. Kaposta
S. Gasperini
A. Burlina
G. Parenti
P. Strisciuglio
G. Ceccarini
A. Federico
A. Simonati
B. Tumiene
H. Huidekoper
F. van Spronsen
A. Bosch
M. E. Rubio-Gozalbo
G. Visser
T. Tangeraas
A. Aarsand
B. Kiec-Wilk
Amsm Gaspar
D. Quelhas
E. Leao-Teles
O. Azevedo
Emfr Silva
Lmdfd Matos
E. Martins
S. Lajic
Niklas Darin
U. Groselj
M. Z. Tansek
Published in Orphanet Journal of Rare Diseases
Volume 15
Issue 1
ISSN 1750-1172
Publication year 2020
Published at Institute of Clinical Sciences, Department of Pediatrics
Language en
Keywords Orphan medicinal product, Access to treatment, European Reference, Network, Hereditary Metabolic Diseases, Inborn errors of metabolism, drugs, Genetics & Heredity, Research & Experimental Medicine
Subject categories Clinical Medicine


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.

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