Bone effects are the most frequent cause of disability in Gaucher disease (GD). Magnetic resonance imaging (MRI) has improved the study of bone involvement making it possible to measure the extent of infiltration and to identify localized complications and other lesions. In the article are described the results of the analysis of all bone lesions registered in MRI studies performed in the GD Clinic. A retrospective study was undertaken for all patients with types 1 and 3 GD who underwent MRI evaluation and correlated with clinical, molecular, and other follow-up information obtained from the Spanish GD Registry. For the full article please click here.
Acquired aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH) are interrelated ultra-rare diseases. Quality of life (QoL) evaluation tools used in studies for AA and PNH are unspecific and designed for cancer. Given the complexity of AA and PNH, variation in symptoms and treatments, younger age of many patients, and the fact that AA and PNH are not classified as malignant diseases, it is likely that cancer-specific questionnaires are inappropriate. For the full article please click here.
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.
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.
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.
Between the 4-5th of November 2016, in Plovdiv was held training workshop on health technology assessment (part IV) – transferability and global cooperation in HTA. In it have participated doctors, representatives of the patient organization, representatives of the pharmaceutical industry and two special guest lectors from the United Kingdom.
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.
The journal Muscle Nerve has published a paper about the Limb Girdle Muscular Dystrophies (LGMDs). Italian LGMD has made a registry that included 370 molecularly defined patients. LGMD types 2A and 2B are the most frequent forms in Italy. For more information please click 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.