The second IRDiRC conference held in Schenzen, China: another successful and enlightening event
Last month, the much awaited 2nd International Rare Diseases Research Consortium (IRDiRC) conference took place in Shenzhen, China. Held on 7-9 November 2014, this conference was organised by IRDiRC in partnership with BGI to bring together rare disease stakeholders from all over the world to discuss and share experiences and expertise. This international conference was attended by more than 600 participants representing Europe, North America, Australia and Asia.
Encouraged by the success of the 1st IRDiRC conference, held in Dublin, Ireland in 2013, the main theme of this conference was also collaboration, placing emphasis on contributing towards expertise, information and technology via global networks to improve diagnosis of rare diseases, patient access to best treatment and care, and patient and family support. This year, along with the three tracks that mirror the scientific committees of IRDiRC - Diagnostics, Interdisciplinary, Therapies – a track focusing on education and training to better understand and provide top quality care for rare disease patients was also added.
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This meeting boasted of attendance from policy makers, industry leaders, academicians as well as patient organisations from around the world. Representatives from regulatory bodies shared their expertise and pushed the need for more regulatory success for orphan drugs. Patient organisations gave an overview of the current need of patients and how coming together with a common agenda is urgent, but also achievable. Industry partners emphatically expressed the need to work with academicians, patient organisations and regulatory bodies to significantly increase the number and quality of drugs that is accessible to all. The attendees also heard from rare disease patients in China (in the picture below), which was not only inspirational but also a testament to the work of IRDiRC being fundamental to advance the cause of rare disease research in order to find more and better treatments for these patients.
Rare disease patients in China represented at the conference
IRDIRC promises to contribute to the development of 200 therapies for rare disease and means to diagnose all of them by 2020, which can only be possible through the collaborative efforts of academics, researchers, clinicians, industry leaders, policy makers and patient advocates, internationally. BGI is the world’s largest genomics centre that provides comprehensive high-throughput genomics platform and in-depth bioinformatics services for medical, agricultural and environmental applications. This conference held with the support of BGI China has cemented the partnerships between rare disease stakeholders from the West and the East and opened up immense collaborative possibilities for the future.
Selected presentation and photos from the conference with further information are available on the IRDiRC website.
Access selected presentations from the conference on the IRDiRC website
Go to the BGI website
The Ministry of Health in New Zealand introduced a policy called Funded Family Care in 2013, where NZD 23 million was earmarked for individuals who are the primary caregivers to disabled family members. However, this policy was widely criticised for its restrictive rules, lack of flexibility and complicated criteria to receive this help from the government. To qualify for the funding for family members, the patients had to be severely disabled but also fulfil requirements that would be outside of the capabilities of the severely disabled. Some specific examples of these contradictions included that the disabled individuals would have to “explicitly confirm” their preference for a family member to care for them, which may not be possible for the severely disabled, especially ones with communication problems. Analysis performed after 6 months of implementation showed that barely 100 of 1,600 intended care situations had been approved for funding. Thus the Ministry of Health is now re-examining this policy, vowing to make changes to reflect the needs of the disabled. 
The Orphan Product Extensions Now Accelerating Cures and Treatments Act (OPEN ACT) of 2014, has been introduced to the United States congress to encourage pharmaceutical companies and organisations to ’repurpose’ drugs already in the market by adding a rare indication. According to this bill companies can benefit from an additional six months of market exclusivity for adding a rare disease indication to the label of a currently approved drug. The focus will be on drugs with market exclusivity and not generic drugs as there is little or no incentive to conduct the additional clinical trials required by the FDA. Modeled on the incentive programs in the Best Pharmaceuticals for Children Act (BPCA), the OPEN Act would make available to drug companies an "Orphan Product Exclusivity Extension," so long as the sponsor company establishes that the therapy is designated to treat a rare disease and obtains a rare disease indication from the FDA on the drug label. 
The State-Regions Conference, chaired by the Undersecretary of Health Vito De Filippo, along with the Minister Beatrice Lorenzin, has approved the National Plan for Rare Diseases 2013-2016. Along with a three-year validity, this plan provides schemes for proper intervention and care for rare disease patients. It also provides an approach for uniformity of care throughout the country as well as funding assistance. The plan also addresses the appropriateness of health interventions of some diseases that, in the past, was wrought with problems such late diagnosis and an uncertain process of care. 
Advances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. An article published in the Orphanet Journal of Rare Diseases has described the characteristics of patients with UCDs in Spain, which helps in the analysis of the frequency, natural history and clinical practices in the area of rare diseases. According to the authors, this additional knowledge is extremely important to understand the needs of the patients and plan their care. 
An article published in Orphanet Journal of Rare Diseases examined the number of orphan drugs, the number of patients and budget impact of orphan drugs in the Netherlands in the period 2006 to 2012, both for inpatient and outpatient orphan drugs. The study showed that the number of orphan drugs and patients treated increased substantially over the period studied, so did the budget impact. According the authors, in 2012, 17% of available drugs had an individual budget impact of more than €10 million per year. The authors believe that the budget impact of orphan drugs is considerable and has grown substantially over the years which could potentially influence reimbursement decisions for orphan drugs in the future. 
The Canadian Institutes of Health Research (CIHR), in partnership with Genome Canada has awarded CAD 2.3 million to the Canadian Rare Diseases Models and Mechanisms (RDMM) Network to investigate molecular mechanisms of rare diseases. 
GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE gene. A study published in the Orphanet Journal of Rare Diseases reports the development of a nationwide patient registry for GNE myopathy in order to facilitate the planning of clinical trials and recruitment of candidates, and gain further insight into the disease to improve therapy and care. The authors utilised the medical records of genetically-confirmed patients with GNE myopathy at the National Center Hospital of the National Center of Neurology and Psychiatry as well as the datasheet of the nationwide registry of dystrophinopathy patients in the Registry of Muscular Dystrophies (Remudy) to establish the Remudy-GNE myopathy. The authors report that the registry currently has 121 patients, due to the collaborative efforts of 93 physicians from 73 hospitals. The authors believe that the Japanese Remudy-GNE myopathy is useful for clarifying the natural history of the disease and recruiting patients with genetically-confirmed GNE myopathy for clinical trials. 
