The journal Hemophilia: The Official Journal of the World Federation of Hemophilia has published an article about measuring the quality of haemophilia care across different settings. Haemophilia is a rare disease for which quality of care varies around the world. The guiding criteria for selection of possible indicators were ease of calculation and direct applicability to a wide range of countries with basic data collection capacities. The full-text article you can find here.
orphan drugs
The journal The Patient has published a review about еstablish support groups in rare diseases. Support groups are an important resource for many people living with rare diseases. CINAHL and PubMed have searched for publications that described the benefits or perceived benefits of participating in rare disease support groups or the barriers and facilitators of establishing and maintaining them were eligible for inclusion, from January 2000 to August 2015, with no language restrictions. Ten publications were included in the scoping review. There was no trial evidence on support group benefits. All ten publications reported on the perceived benefits of participating in rare disease support groups. Rare disease support groups are an important source of emotional and practical support for many patients. The full-text review you can find here.
The journal Rare Diseases and Orphan Drugs has published an article about the rare diseases in Bulgaria. Defining and setting a rare disease inventory is a fundamental part of rare disease policy. This tool is of a paramount importance, as it greatly affects the knowledge and awareness of rare diseases not only among health care practitioners, but among all rare disease stakeholders. An official list of rare diseases is particularly beneficial now in the context of the European reference networks for rare diseases, generating added value at both international and local levels. For full-text article click here.
The journal Molecular Genetics and Metabolism has published an article about Niemann-Pick disease Type C. Niemann-Pick disease Type C (NP-C) is a genetic lipid storage disorder characterised by progressive neurovisceral symptomatology. Typically, disease progression is more pronounced in patients with early onset of neurological symptoms. Heterogeneous clinical presentation may hinder disease recognition and lead to delays in diagnosis. The full-text article you can find here.
Timed walk as primary outcome measure of treatment response in clinical trials for HTVL-1-associated myelopathy
The journal Pilot and Feasibility Studies has published a study about the treatment of HTVL-1-associated myelopathy. To advance the treatment of HTVL-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP), randomized controlled therapeutic studies with appropriate and sensitive outcome are reuired. Data on 10MWT from 76 patients with HAM/TSP were prospectively collected from four specialist centres in Brazil, Japan, USA and UK. Baseline mean (standard deviation= SD), median 10MWT were 23.5 (18.9), 16.3 s/ 10 m and at 6 months 24.9 (23.9), 16.4 s/ 10 m. The mean (SD) % increase in walk time was 5.74% (28.2%). The intra-patient variability of 10MWT is relatively small in HAM/TSP over 6 months. The full-text study you can find here.
The journal EPMA has published an article about biomarkers in rare diseases. There are more than 8000 rare diseases that affect >5% of the world’s population. Many of the RDs have no effective treatment and lack the knowledge creates delayed diagnosis making management difficult. The emerging concept of the personalized medicine allows for early screening, diagnosis, and individualized treatment of human diseases. In this context, the discovery of biomarkers in RDs will be of prime importance to enable timely prevention and effective treatment. The full-text of the article you can find here.
The journal Clinical Case Report has published an article about computed tomography anomalies. Hypocalcemia due to chronic hupoparathyroidism presents with nonspecific symptoms. However, it untreated, hypocalcemia may affect neurological, cognitive, muscular, and cardiac function. Computed tomography (CT) findings may confirm a diagnosis of chronic hypoparathyroidism. The full-text article you can find here.
The journal Intractable & Rare Diseases Research has published an article about the compassionate use programs. The past decade witnessed rapid development of novel drugs and therapeutic biological agents. The marketing authorization for novel therapies is often time consuming and distressing for patients. Earlier clinical trials were the only way to access new drugs under development. However, not every patient meets the enrolment criteria, and participation is difficult for patients with life-threatening, long-lasting or seriously debilitating diseases like rare diseases. The full-text article you can find here.
The journal Gastroenterology Research has published an article about Wilson’s Disease and Ulcerative Colitis. Ulcerative Colitis (UC) is a chronic relapsing inflammatory bowel disease (IBD). Wilson’s disease (WD) is a disorder of copper (Cu) metabolism due to inherited mutations in a gene encoding a putative Cu-transporting P-type ATPase, with a heterogeneous clinical presentation that includes hepatic, neurological, or psychiatric symptoms. The case of a 17-year-old female that presented with severe liver failure, three years after UC onset, and in which diagnosis of WD was established is reported. The journal reviews the literature and discuss the possible association between the two rare diseases. The full-text article you can find here.
The journal Orphanet Journal of Rare Diseases has published an article about the research for rare genetic disease. Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the pharmaceutical industry. The challenge therefore is how best to mobilize rare disease stakeholders to enhance basic, translational and clinical research to advance understanding of pathogenesis and accelerate therapy development. The full-text article you can find here.