Background Late and misdiagnoses of rare disease patients are common and often result in medical, physical and mental burden for the patient, and financial and emotional burden for the patient’s family. Low rare disease awareness among physicians is believed to be one of the reasons for these late and misdiagnoses of rare disease patients. The aim of this study was to investigate how information and education could be tailored to the needs and preferences of physicians in Belgium to increase their rare disease awareness and support them in diagnosing patients with a rare disorder. Nine exploratory interviews with Belgian rare disease experts were performed in December 2016 to help the development of a questionnaire on information needs of physicians and their consulted information sources in rare disease awareness and diagnosis. This online questionnaire was then completed by Belgian physicians ( n = 295), including general practitioners (GPs), pediatricians and other specialists (i.e. neurologists, pediatric neurologists, endocrinologists and pediatric endocrinologists) during January and February 2017. Results Rare disease knowledge and awareness were the lowest among GPs and the highest among specialists. Interviewed experts indicated that physicians’ academic and continuous medical education should be focused more on “red flags” to increase rare disease attentiveness in daily clinical practice. GPs scored their academic education on rare diseases as insufficient but pediatricians and other specialists scored it significantly better ( p < 0.001). Even though GPs declared to only need information on rare diseases when having a rare disease patient in their practice, specialists indicated to need more rare disease information in general. Most physicians confirmed that they had specific information needs regarding rare diseases. Unlike specialists, the majority of GPs were unaware of information sources such as Orphanet. Conclusion In order to effectively support physicians in Belgium to diagnose rare diseases early, the academic medical education on rare diseases should be revised. Teaching methods should be focused more on casuistry and “red flags”. An Orphanet-like digital platform about rare disease symptoms, diagnostic tests and reference centers might be ideal to support correct and timely diagnosis. Electronic supplementary material The online version of this article (10.1186/s13023-019-1075-8) contains supplementary material, which is available to authorized users.

Our study showed that rheumatologists, more so than patients, were convinced that there can be differences between originators and biosimilars. Despite safety being the major concern of patients, patients trusted their physician's decision to start on or switch to a biosimilar. The evolution of the uptake of biosimilars in Belgium might thus depend mainly on the perception of physicians.

A high prevalence of elevated gastrointestinal risk was found in this survey of patients with osteoarthritis who were current or candidate users of non-steroidal anti-inflammatory drugs. This appears to be insufficiently recognized, as preventative gastro-protective co-treatment was infrequently prescribed. Careful assessment of gastrointestinal risk factors should be made before prescribing non-steroidal anti-inflammatory drugs, with treatment tailored to the patient's gastrointestinal risk profile.

Goals: an evaluation of effectiveness of Fludarabine, Cyclophosphomide and Rituximab (FCR therapy) for patients with newly diagnosed Chronic Lymphocytic Leukemia (CLL) for validation of results from multi-centered clinical trials in real clinical practice. Materials and methods: sixty six (66) patients with newly diagnosis of CLL were included to this prospective study with average age of 58 years old (39-73 years old). Stage I -II according to Rai staging system was found in 76% of patients; Stage III-IV -in 24 % of patients. All patients received 6-8 cycles of inductive FCR therapy: Rituximab 375 mg/m 2, iv -first cycle, followed by 500 mg/m 2, iv; Fludarabine -25 mg/m 2, iv -days 2,3 and 4 of a cycle; Cyclophosphamide -250 mg/m 2 ,iv-days 2,3 and 4 of a cycle). Patients were divided into two groups based on duration of induction cycles (IC). Group 1 had average IC of 36 days; Group 2 -49 days. Evaluation of immunochemotherapy effectiveness was determined by presence of remissions (IWCLL-2008), progression-free survival (PFS) and overall survival (OS) (Kaplan -Meier method).Results: Complete Remission (CR) was observed more often in Group 1 (FCR-36) than in Group 2 (FCR-49) -56.6% and 37.9% of patients, respectively (p > 0.05). Median PFS was 36 months in all patients; 45 months -in Group 1 (FCR-36) and was not achieved in Group 2 (FCR-49). Median OS was 45 months in Group 1 (FCR-36) and was not achieved in Group 2 (FCR-49).Conclusions: confirmation of FCR therapy effectiveness for newly diagnosed CLL patients was established in real clinical practice characterized by non-selective patient groups and prolonged induction therapy cycles. Results of this study provide validation for results from multi-centered clinical trials and could be reproduced on a greater scale in clinical practice.

The multicenter observational BiRD study investigated the real-world effectiveness and safety of ibrutinib in patients with chronic lymphocytic leukemia (CLL), mantle cell lymphoma (MCL) and Waldenström’s macroglobulinemia (WM) in Belgium. This interim analysis reports results for patients with CLL, with a median follow-up of 34 months. Overall, patients had predominantly relapsed/refractory disease (73%) and were elderly (median age 72 years) with high-risk features such as del17p and/or TP53 mutations (59%). Patients were included either prospectively or retrospectively, and the total patient population effectiveness results were adjusted with left truncation. In the effectiveness population (N = 221: prospective, n = 71; retrospective, n = 150), the overall response rate was 90.0%. Median progression-free survival was 38.3 months (prospective, not estimable; retrospective, 51.5 months) and median overall survival was not yet estimable in the total, prospective and retrospective groups. Treatment-emergent adverse events (TEAEs) for the prospective and retrospective groups are reported separately. Any-grade TEAEs of interest in the prospective/retrospective groups included infections (67.1%/60.1%), diarrhea (20.5%/10.5%), hypertension (16.4%/9.8%) and atrial fibrillation (12.3%/7.2%). Major bleeding was reported in 5.5%/3.3% of prospective/retrospective patients, with little difference observed between those receiving versus not receiving antithrombotic treatment. Discontinuations due to toxicity were reported in 10.5% of patients. Results from this interim analysis show treatment with ibrutinib to be effective and tolerable, with no new safety signals observed. Future analyses will report on longer-term follow-up.