Season’s Greetings from Orphanet
The OrphaNews team thanks you for your readership throughout 2020. We wish you all the best for this holiday season and a very happy, and hopefully calmer 2021!
Editorial
Public consultation on the EU legislation on medicines for rare diseases and medicines for children
The European Commission (EC) has a public consultation on the European Union (EU) legislations on medicines for rare diseases and on medicines for children. The consultation period is open for six months, from 25 November 2020 to 6 February 2021. The two regulations were respectively adopted in 2001 and in 2006. The revision of both regulations is part of the actions of the EU Pharmaceutical Strategy.
Citizens and stakeholders are called to take part in the revision process, to share their views on the Commission’s work in relation to the two regulations, to propose solutions and any other kind of information they wish to highlight.
This consultation will be contributing to a report summarising all the contributions and feedback to be published by the EC in the new year. This synopsis will include an explanation of how the input will be taken into account, and why any feedback will not be included when applicable. The feedback received will be published in full on the site web of the EC. Rules on suitable feedback are explained here.
By initiating this feedback process, the EC aims to ensure that all stakeholders are involved in improving legislation to support the effective development of rare diseases products, more access to medicines by rare diseases patients, and efficient assessment and authorisation procedures.
The joint evaluation of the two regulations has indicated that research stimulation and rare disease medicines development were strengthened by the both regulations since their adoption. The joint evaluation also highlighted the challenges, for example, regarding the legal framework, for example, the lack of stimulation to develop rare disease medicines for unmet needs), the exclusive competence of Member States as regards pricing and reimbursement of medicines, and companies’ strategic decisions.
Finally, the EC, through the consultation, hopes to address the variation of availability and access to medicines within the Member States, the insufficient development of medicines for 95% of rare diseases without a treatment, the inefficient and burdensome nature of procedures, and the technological and scientific developments that are still not fully exploited (for example in case of their adequation to advance science). The excepted impacts of this assessment will be both social, economic, on fundamental rights, administrative, and environmental.
ERN News
ERICA Project: Joining forces to integrate research and innovation capacity across all 24 European Reference Networks
The European Rare Disease Research Coordination and Support Action (ERICA) Project received a positive evaluation for a H2020 grant to establish a structural framework to support the research activities of the ERNs. ERICA aims to strengthen research and innovation capacity by integrating ERN research activities and providing outreach to European research infrastructures to establish synergies thus increases impact and Innovation. This should result in safe, accessible and efficient access of therapies for the benefit of patients suffering from rare diseases and conditions.
ENDO-ERN coordinates the ERICA Project and the project builds on the strength of the individual ERNs by promoting inter-ERN research activities and by establishing firm collaborative ties with existing European and international infrastructures and consortia involved in rare disease research and innovation. The ERICA Consortium consists of 29 partners, amongst which all 24 ERNs, EURORDIS, EJP RD, Orphanet, Mapi Trust Research, and EATRIS.
MetabERN: COVID-19 impact on rare metabolic patients and healthcare providers
Two surveys on the disruption caused by Covid-19 pandemic to the management and treatment of rare inherited metabolic disorders (IMDs) and its impact on rare disease (RD) patients from March to April 2020 were conducted by the European Reference Network for Hereditary Metabolic Diseases (MetabERN). One survey was of patients’ organisations (PO), and the second of healthcare providers (HCPs).
RD patients faced disruption of care services (appointments and treatments postponed or cancelled in 90% of cases) which were replaced by telemedicine. The surveys also revealed a strong connection between PO and HCPs, which were able to work together efficiently to support fragile patients during the Cocvid-19 pandemic.
EURO-NMD: International Neuromuscular COVID-19 Database
The European Reference Network for rare or low prevalence complex diseases (ERN-EURO-NMD) has launched an international neuromuscular database to monitor the outcomes of Covid-19 cases on adult and children patients living with rare or low prevalence complex diseases. The patients are able to report a case of Covid-19 to the international database through this link.
ERN-RND and ERN-NMD: Webinars for 2021
The European Networks for Rare and Low Prevalence Complex Diseases (ERN-RND), and the European Reference Network for Neuromuscular Disorders (ERN-NMD), in collaboration with the European Academy of Neurology (EAN), are providing educational webinars on rare neurological and neuromuscular diseases. The series of webinars are aimed at sharing knowledge on movement, neuromuscular disorders, and rare neurological disorders covered by the two ERNs, and are presented by experts from the two networks. The webinars are intended for clinical specialists, residents and pharmaceutical employees. Webinars will be held from January to November 2021 and will focus for example on genetic dystonia and treatment, and on clinical outcome assessment in ataxias.
ERN-EuroBloodNet: Repository of Clinical Practice Guidelines and Other Clinical Decision Making Tools
The new repository of the ERN-EuroBloodNet, which comprises six subnetworks, totals 117 Clinical Practice Guidelines (CPGs) and Clinical Decision Making Tools (CDMTs) on rare hematological diseases (RHD). The repository is available on the website of the network. CPGs and CDMTs have been published by national and European actors, however, it is the first time that such a repository of documents is available on their website. The level of the quality of the documents, the level of implementation, updates, compilation of CPGs and CDMTs, classification b domains, evaluation of gaps, and available updates, are contributing to the impact of the tool on the quality of life of patients living with RHD, and to fostering best sharing practices on RHD.
ERN-EuroBloodNet: 15th ASCAT session jointly organised by the ERN-EuroBloodNet, ASCAT and BSH
EuroBloodNet, in collaboration with the European Heamatology Association (EHA), and the British Society for Haematology (BSH), organised the online session of the 15th session of the Annual Academy for Sickle Cell and Thalassemia Conference (ASCAT) during the last week of October 2020. The main topics discussed during the online conference were related to treatment of haemoglobinopathies and emerging new therapies, and to the latest diagnostic advances. Patients living with SCD and healthcare professionals also contributed in the organisation of the conference. SCD patients raised numerous questions during the conference on the current Covid-19 pandemic, and its effects on patients with SCD, following which a separate session on Covid-19 and SCD was organised on 14 December.
ERN ITHACA: Call for collaborative clinical research on developmental disorders
The European Reference Network on rare congenital malformations and rare intellectual disability (ERN-ITHACA) has launched a call for collaborative calls for patients with variants in known rare genes. The ERN is connecting, with this initiative, 70 leading departments in genetics. ITHACA members are called to submit applications to the call and are eligible to work on 2 genes per year. The duration call is a period of 6 months.
Orphanet News
New texts of the Orphanet Encyclopedia translated to Hebrew
New texts of the Orphanet encyclopedia have been translated into Hebrew. The new texts add to the first set of 20 texts which were translated in September 2020 and that are published on the Orphanet website. A total of 74 abstracts have now been translated into Hebrew.