3rd IRDiRC Conference – Trends in Patient Advocacy

As mentioned in last week’s blog, the 3rd International Rare Disease Research Consortium (IRDiRC) conference was held on the 8-9th February in Paris bringing together international experts in the rare disease field to discuss progress and to set new goals.

One of the sessions of the conference focused on global trends in patient advocacy in the rare disease field.

Yann Le Cam from EURORDIS discussed patient engagement in research, product life cycle and healthcare in Europe. Yann introduced EURORDIS and its aim of creating value for rare disease patients. EURORDIS has representation in external networks, organisations and institutions. In research, they act at the policy level creating position papers, advocacy actions and commissioning expert groups. At the operational level, they participate as partners through EU funded projects bringing the patient’s perspective to the table. At a capacity building level, they organise workshops to promote the sharing of information between researchers and patients. In therapy development, EURORDIS dialogues with the pharma industry and gets involved in European Medicines Agency (EMA) committees. They also review the orphan drug status and perform benefit/risk assessments. They also organise the EURORDIS Summer School, a program that allows rare disease patients and researchers to improve their advocacy skills and understand the process of orphan product development. The next Summer School will be held in June 2017 in Barcelona, Spain.

Matt Might from the University of Utah told the inspiring story of his son who had an undiagnosed condition that caused serious development delays and other issues. After 4 years without answers a team performed gene sequencing and found a mutation in the NGLY1 gene that was leading to a lack of enzyme recycling. This was the first and only case reported and therefore it was considered “not actionable”. Matt decided to take action himself, he started researching about the gene and found only 5 papers on Pubmed mentioning the gene mutation. Matt wrote a blog post looking for other patients “Hunting down my son’s killer” to find other cases of NGLY1 deficiency. Since writing the blog post he has found 15 more cases, a NGLY1 community has been formed, biomarkers have been found, conferences organised, assays, drug screening and different models have also been developed .

Yukiko Nishimura from ASrid in Japan presented the current situation of patient groups in Japan. In Japan the term “NANBYO”, which means ‘difficult disease’ and is used for rare, incurable and chronic diseases, started being used to raise awareness in the rare disease field. Yukiko introduced ASrid as an intermediary organisation to connect all stakeholders in the rare disease field to try to improve the current situation in Japan. Currently, the focus in rare disease is almost exclusively on social/welfare and not on R&D, there is a lack of funding and human resources and lack of English skills. Most patient groups are just patient groups and not patient advocacy groups. Other issues that Yukiko raised were the fact that some patient groups are not modern enough with elderly patients being unable to use email/phone and the fact that there is not a philanthropy culture in Japan.

Finally, Hawa Drame from the Fitima Foundation in Burkina Faso talked about the management of patients with rare diseases in the African context. Hawa mentioned that adding to all the “usual” issues in rare diseases, there is the specific economic risk in Africa. The many barriers to progress in the field include social-cultural issues, the weakness of healthcare system with low number of hospitals and doctors, inequality, difficulties accessing medicines, the weakness of social security system, lack of information and the failure to respect the fundamental rights to health. Trying to fight this, the Fitima Foundation was founded in 2003 to provide patients living with rare disease and disabilities (especially children) with improved life. Fitima has a human rights approach and currently works in Burkina Faso and Guinea. The objectives of the foundation include bringing together local doctors and paramedical specialists, organising multidisciplinary national medical consultations and defining pathways of care.

This session clearly showed how patient involvement and advocacy is vital to incentivise progress and research into rare diseases. Patient groups are starting to play a very active role in decision making, acting as a voice for their patients, increasing education of rare diseases and facilitating networking and data sharing.

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