Poorly differentiated pancreatic neuroendocrine carcinoma (PD pNECs) is a rare disease that has a poor prognosis and is treated with systemic chemotherapy as the standard of care. There have been presented 6 cases of chemo-naïve patients diagnosed with PD pNECs who refused systemic chemotherapy and received targeted therapies with sunitinib (37.5 mg/day, 5 patients) or the mammalian target of rapamycin (mTOR) inhibitor everolimus (10 mg/day, 1 patient) as the first-line treatment. For the full article please click here.
orphan drugs
Household financial burden of phenylketonuria and its impact on treatment in China: a cross-sectional study
Journal of inherited metabolic disease has published a paper on the economic burden and health-related quality of life of patients with phenylketonuria (PKU) in China. The medical and non-medical household financial burdens were consolidated into a questionnaire to evaluate the out-of-pocket costs (OOPCs) of PKU treatment and follow-up. The total OOPCs were USD$3766.1 (0y), USD$3795.2 (1-2 ys), USD$4657.7 (3-4 ys), USD$5979.9 (5-8 ys), and USD$5588.7 (9 ys and older) for PKU patients of different age groups. The full-text article is available here.
The Patient Experience of Hemophilia and Human Immunodeficiency Virus: A Systematic Review of Qualitative Evidence
Jbi library of systematic reviews has published a review, which objective is to describe and synthesize the experiences and perspectives of illness for patients living with both hemophilia and human immunodeficiency virus (HIV). Hemophilia is an inherited bleeding disorder caused by low concentrations of specific coagulation factors. Nevertheless, adherence to highly active anti-retroviral therapy (HAART) medication by patients with hemophilia (66%-84%) is lower than that of patients with only HIV (98%) in Japan. The full review can see here.
The Journal of clinical endocrinology and metabolism has published a study regarding the analyzing of the epidemiological, clinical, biochemical, and therapeutic data from the Mexican Acromegaly Registry. A total of 2057 patients (51% female, mean age at diagnosis 41.1 ± 24.5 y) have been registered for an estimated prevalence of 18 cases per 1 million inhabitants. The MAR is the largest and first non-European registry of the disease. The findings highlight important within-country differences in treatment choice due to variations in the availability of resources. The full-text article is available here.
RD-Connect is a six-year European FP7 program providing access to an integrated platform of biobanks, registries and bioinformatics data to rare diseases (RD) researchers worldwide. RD biobanks and registries such as of the RD-Connect are encouraged to make samples and clinical data available to a wider scientific community via their ID-Cards, a searchable and dynamic directory aimed at making data Findable, Accessible, Interoperable and Reusable (FAIR). For more information, please click here.
The European Medicines Agency (EMA), SMA Europe and the TREAT-NMD network are holding a one-day workshop to discuss, support and advance the development of therapies for the treatment of spinal muscular atrophy (SMA). The workshop will be held at EMA’s premises in London on 11 November 2016. The workshop will convene key stakeholders – patients, doctors, industry representatives, researchers and regulators – to take stock of the latest scientific developments in the area and discuss ways of developing therapies for the treatment of SMA. Topics for discussion will include an overview of the disease, the pharmacology of the molecules under investigation, natural history data, clinical outcome measures and potential use of biomarkers in drug development. For more information please click here.
It’s considered that around 1 million kids under 16 years are with rare diseases in Italy. Around 60% wait around average 2 years to be diagnosed after the first symptoms of the disease and 40% are left undiagnosed. In the pediatric hospital Bambino Gesu which plays a very important role in the national and international scene in the diagnosis and treatment of rare diseases, has been made a clinic for kids and families who have undiagnosed rare disease. For more information please visit link.
Orphanet Journal of Rare Diseases has published a paper about the off-label use of orphan medicinal products for rare diseases in Belgium. The study included semi-structured interviews with seven physicians with expertise in the treatment with and six experts in the reimbursement of orphan medicinal products in Belgium. Most participants do agree with the off-label use if the medicinal product is quite safe and well-tolerated, if the on-label indication is rather general and when all other options have failed in some specific, evidence-based indications, especially in children. The full-text article is available here.
International joint recommendations to address specific needs of undiagnosed rare disease patients
EURORDIS-Rare Diseases Europe, together with SWAN UK, the Wilhelm Foundation, Rare Voices Australia (RVA), the Canadian Organization for Rare Disorders (CORD), the Advocacy Service for Rare and Intractable Diseases’ stakeholders in Japan (ASrid) and the National Organization for Rare Disorders (NORD) jointly submit a list of recommendations to address the specific needs of patients without a diagnosis urging all stakeholders to recognise undiagnosed patients as a specific population within the rare disease community. Undiagnosed rare disease patients require the availability of a complete health and social care pathway in advance of receiving a diagnosis. For more information visit this link.
On 22-23 February 2017 will be organized the 2nd Multi-Stakeholder Symposium on Improving Patient Access to Rare Disease Therapies in Brussels, Belgium. EURORDIS and partners will bring together academics, clinicians, policy makers, investors and industry representatives to provide a platform for dialogue. All stakeholders will have the opportunity to express their views and observations in order to reach sustainable and durable solutions to improve patient access to rare disease therapies across Europe. For more information please follow the site of the symposium.