The theme of the International Rare Disease Day 2018, organised by EURORDIS, will be once more “research”, with a particular focus on the role of rare disease patients in this field. This highly successful and influential initiative will this year highlight rare disease (RD) patients’ contribution to research projects (fundraising), clinical trial design, network buildup, and data sharing between patient organisations.
A report from the European Medicine Agency illustrates how collaboration between regulators and healthcare payers could create synergies facing the challenges in the field of pricing and reimbursement decisions at a national and regional level. By merging together it could improve patients’ access to new medical products and make them more affordable. The platform mechanism of coordinated access to orphan medicinal products (MoCA) is also involved in the discussion, specifically on orphan drugs. EMA's Executive Director, Professor Guido Rasi said: "their role is key to develop medicine and gathers evidence that generates efficient decision-making".
The Journal of the American Medical Association has published a report that describes a new era in paediatric oncology following the approval of a CAR-T (tisagenlecleucel) treatment for paediatric and young adult acute lymphoblastic leukaemia (ALL) by the FDA. The new treatment cost is undeniably high even for oncology drugs, with a cost of $475 000 for the one-time infused therapy. The report claims that the new treatment may be extremely expensive but its effectiveness (80% 1-year survival after treatment) is a clear advantage other alternative treatments costing over $10 000 per month. However, possible side effects such as cytokine release syndrome can occur requiring supplementary treatments thus adding to the final cost of treatment.
In an article from the Journal of the American Medical Association, a team of researchers has identified that merging non-academic hospital networks with health systems would lower research costs. This approach aims to save money, that is often lost carrying out redundant work, and to encourage more research, thus benefitting health systems and patients, and also generating new medical knowledge. A cooperative effort will allow savings in clinical trials and research projects.
An article published in Clinical Therapeutics identifies how social media impacts orphan drug development in three ways: from assisting the study of orphan diseases to playing a vital role in the clinical trial process, and increasing awareness of rare diseases. The article explores a possible strategy that could influence more positive outcomes rather than negative outcomes when it comes to orphan drug development and possible pitfalls. It says that with better support and participation from companies, patients, and advocacy groups, as well as guidance from regulatory authorities, social media could improve its impact.
An article published in Patient Related Outcome Measures describes the results from the 2015 French barometer report of rare disease patients on their life with a rare disease, by the Rare Diseases Observatory (L'Observatoire des maladies rares).
448 participants took part in the Observatory Rare Diseases study including patients, parents and relatives. The report shows that the access to diagnosis has evolved and has been improved during the last years. It is said that almost half of the participants have obtained a diagnosis within the year of the first symptoms, and others had to wait for six years or even more to obtain one. The report also highlights that the coordination between hospitals and family doctors is unsatisfactory for 45% of the participants' of the study and that 90% of them think that medical and paramedical professionals outside of the hospital have an insufficient knowledge of their pathology. However, 60% of the participants felt well supported and considered by the educational teams compared to 51% of the participants who had to stop working or could not work as a consequence of the disease. Although, almost half of the participants affected by a rare disease in the study experienced isolation from family, friends and relatives due to their disease.
The report highlights the progress that has been made over the past 15 years, thanks to two national plans on rare diseases. However, a lot remains to be done by generating a greater access to the next generation sequencing and medical diagnostic.Information should be complemented by a real communication strategy to raise the awareness of the rare diseases resources. The collected data gives a better understanding of the life path rare disease patients have to overcome and highlights the possibility of further in-depth studies to improve the collaboration between patients and caregivers.
A new national plan is in preparation in France and the authors of the report are hoping for the third national plan to meet the concerns and expectations of rare disease patients.
A video made by Maladies Rares Info Services (EN subtitles) is linked to the article that has been published.
An article from the journal of the American Society of Hematology describes the ethical challenges related to genomic testing use for haematologic disorders. It shows that challenges are related to patient consent prior to genomic testing, inequalities in access to genomic testing, and the benefits from it. The article also highlights the uncertainty of the results from genomic testing and how patients may not always wish to know about certain results. The article concludes that today there are fewer disparities due to technological progress and more patients are able to benefit from genomic testing.
An article published in the Jama Oncology journal describes how paediatric oncology patients and families could benefit from an ‘early palliative care’. The study shows that patients and families are more favourable towards the integration of palliative care at an earlier stage than expected. Early palliative could be helpful at lowering symptoms like nausea, constipation, pain, depression, loss of appetite and diarrhoea. The article highlights that both patients and families could benefit from early palliative care.
The ERN GUAR-HEART has recently defined a cross-cutting Action Groups to conduct specific activities in the field of rare and complex heart diseases. They have split current members of the ERN GUARD-HEART into 5 defined groups. Each group have a specific role and goal in the structure of the ERN GUARD-HEART.
