2015: The year that was for rare disease stakeholders
The past year saw great progress in the economic and scientific policies in the field of rare diseases. Although there are still challenges ahead for rare disease stakeholders, the year 2015 proved to have raised the profile and created greater awareness for rare disease patients.
Several European countries adopted, extended and assured continued support for rare disease plans. France and the Czech Republic extended the 2nd National Plan for Rare Diseases, while Austria, Croatia and Northern Ireland adopted its first rare disease plan. Turkey made considerable progress in providing access of oncological drugs.
Last year, after the completion of the EUCERD Joint Action, another Joint Action – RD-ACTION was launched to ensure the continued collaboration, which will in turn provide the necessary analysis towards policy recommendations. Orphanet became the 30th platform for the French Institute of Bioinformatics. They are also collaborating with the Swedish Information Centre for Rare Diseases and the IHTSDO to improve visibility of rare diseases in SNOMED CT.
In addition, several landmark decisions were adopted Europewide. Most notable were the resolution of Belgium and the Netherlands to jointly negotiate the purchase of orphan drugs and the approval by the United Kingdom parliament to licence clinics to perform mitochondrial replacement therapy. England also expanded its newborn screening programme and issued a proposal to redesign genomic laboratories. France released its mechanisms of support for rare cancers. Ireland’s opened its first National Rare Disease Office (NRDO). Portugal implemented its rare disease persons card. The European Commission (EU) reported on the first year of implementation of the crossborder healthcare initiative and conducted a highly successful conference on the setting up of European Reference Networks. The EU also launched, in public consultation, a notice on orphan medicinal product.
The European Medicines Agency, which celebrated 20 years in 2015, launched several significant new initiatives including the collection of high-quality data on medicines through patient registries, procedures to enhance early dialogue to facilitate accelerated assessment of priority medicines (PRIME). The EMA also recommended 14 orphan medicinal products for marketing authorisation in 2015, according to the data from European public assessment reports on the EMA website and NICE has recommended the first ultra-orphan drug - Soliris, for reimbursement.
In the United States, the President earmarked US$215 million towards ’Precision Medicine’, of which a significant amount will be towards finding treatments for rare diseases. The US also amended its newborn screening laws, with stricter procedures towards privacy. The 21st Century Act, which adds to the benefits rare disease patients, passed through the United States Congress and Senate. The United States Food and Drug Administration (FDA) also produced several new initiatives such as the Individual Patient Expanded Access. Additionally, the FDA issued a draft guidance for industries, produced for the first time with the help of a patient organisation, on developing drugs for Duchenne Muscular Dystrophy. The FDA has approved 34 orphan drugs for marketing authorisation in 2015, according to FDA data access website. Finally EURORDIS, NORD and several other patient organisation from across the globe launched Rare Diseases International. In Canada, several provisions were made to fund orphan drugs.
There was also considerable progress observed in the Asia-Pacific region as Philippines introduced a comprehensive policy for rare disease patients. Taiwan passed much needed amendments for increased care for rare disease patients. Although Australia produced a comprehensive rare disease plan, it was not adopted due to lack of political support. However, Australia, for the first time, conducted a postmarket review of the Life Saving Drugs Programme and a review of the Medicare Benefits Scheme Review in order to make sure that rare disease patients have proper access to medication. The Australian state of Victoria also earmarked a substantial amount for genomic sequencing for undiagnosed patients. An essential conference on rare disease patients was conducted in India, which was well-attended by stakeholders the world over as well as an ex-President of India. Japan amended its Protection of Personal Information act which will help rare disease patients. Furthermore APARDO - rare disease alliance for the Asia Pacific region was launched late last year.
IRDiRC launched an indicator of quality and relevance of rare diseases research tools – IRDiRC recommended - which many organisations have availed.
A triumph for transparency was witnessed in 2015 with an intent to amend the EU clinical trial regulation to include transparency rules. All clinical trial data will be published by the EMA (with a few caveats) and the World Health Organization issued a statement in support of all clinical trials to be reported within 12 months of its completion. In the United States the Institute of Medicine pushed companies to share clinical trial data, while some pharmaceutical companies have voluntarily complied, individually (for eg., Johnson & Johnson) as well as collectively (https://www.clinicalstudydatarequest.com)
The debate on the high prices of medications, including orphan drugs, intensified in 2015 as the gene therapy Glybera set its price at €1-million in Germany. Canada issued a price cut for Soliris, for which they are being sued. Some policy makers, in the United States introduced transparency bills during the 2014-2015 period, "aiming to make drug companies justify their prices". Furthermore, for the first time in the United States, Medicare may have the opportunity to negotiate prices with the pharmaceutical companies.