Mucopolysaccharidosis VI is a rare disease characterized by the arylsulfatase B enzyme deficiency, which is responsible for different clinical manifestations. The treatment consists of enzyme replacement therapy with intravenous administration of galsulfase.
The objective of this review article is to evaluate the effectiveness of the enzyme replacement therapy with galsulfase for the mucopolysaccharidosis VI treatment. For this matter a systematic review of observational studies is made and the databases of PubMed, Cochrane Library, Lilacs, and Journal of Inherited Metabolic Disease are reviewed. Eighteen studies fulfilled the inclusion criteria. A total of 362 participants with mucopolysaccharidosis type VI were evaluated, and 14 different outcomes related to the treatment effect were identified.
Regardless of the inherent limitations of observational studies, the outcomes indicate that the enzyme replacement therapy has a positive effect on most of the outcomes associated to the disease. The full article you can read here.
On 26th of March, 2019, the National Alliance of People with Rare Diseases, together with patient organizations, are organizing a conference, dedicated to European Reference Networks’ (ERN) integrity into the national health systems with the participation of EURORDIS in Sofia. ERN is really important for sharing an experience and good practices in the field of rare diseases.
For the Rare Disease Day 2019, in Plovdiv, the National Alliance of People with Rare Diseases and the Association of Hereditary Angioedema Patients, with the support of Plovdiv Municipality, The Professional School of Food Technology, trio “Persenk”, patient organizations’ representatives, members of their families and friends, will celebrate in front of the Plovdiv Municipality on 28th of February, 2019 (Thursday). At 13:00 sharp, as a sign of solidarity for the million affected by a rare disease people all over the world, the attendees will participate in the mass raising of hands which will be conducted simultaneously in whole Europe, and in the sky there will be released colorful balloons as a symbol of the thousands rare diseases.
Duchenne muscular dystrophy (DMD) is an inherited neuromuscular disorder occurring in boys and caused by mutations in the dystrophin gene. Vamorolone is a first-generation delta-9,11 compound that has favorable efficacy and side effect profiles relative to classical glucocorticoids. The pharmacokinetics (PK) of oral vamorolone were assessed in parallel-group studies in healthy men (phase 1, n = 86) and boys with DMD (phase 2a, n = 48) during 14 days of once-daily dosing with a range of doses. Vamorolone exhibited moderate variability in PK, with the maximum plasma concentration usually occurring at 2-4 hours and a half-life of approximately 2 hours for all doses and days examined. Both men and boys showed a dose-linearity of PK parameters for the doses examined, with no accumulation of the drug during daily dosing. Ingestion with food resulted in markedly enhanced absorption of the drug, as tested in healthy men. Overall, vamorolone exhibited well-behaved linear PK, with similar profiles in healthy men and boys with DMD, moderate variability in PK parameters, and absorption and disposition profiles similar to those of classical glucocorticoids. The full article you can find 
Muscle pain may be part of many neuromuscular disorders including myopathies, peripheral neuropathies and lower motor neuron diseases. Although it has been reported also in mitochondrial diseases (MD), no extensive studies in this group of diseases have been performed so far. We reviewed clinical data from 1398 patients affected with mitochondrial diseases listed in the database of the “Nation-wide Italian Collaborative Network of Mitochondrial Diseases”, to assess muscle pain and its features. Muscle pain was present in 164 patients (11.7%). Muscle pain was more commonly detected in patients with mitochondrial DNA mutations (67.8%) than with nuclear DNA changes (32.2%). Interestingly, patients with nuclear DNA mutations tend to have a better therapeutic response than patients with mtDNA mutations. The full article you can find 
Prader-Willi syndrome (PWS) is a complex neuroendocrine disorder affecting approximately 1/15,000-1/30,000 people. Unmet medical needs of individuals with PWS make it a rare disease that models the importance of multidisciplinary approaches to care with collaboration between academic centers, medical homes, industry, and parent organizations. Interviews with medical professionals, scientists, managed care experts, parents, and individuals with PWS were conducted from July 1 to December 1, 2016. Data are presented based on consensus from these interviews by specialty focusing on unique aspects of care, research, and management. Establishment of clinics motivates collaboration to provide evidence-based new standards of care, increases the knowledge base including through randomized controlled trials. They have a role in global telemedicine, including to rural areas with few resources, and create opportunities for clinical work to inform basic and translational research. The full article you can find 
The “diagnostic odyssey” is well known and described in genetic counseling literature. Studies addressing the psychological, emotional, and financial costs of not having a diagnosis have shown how it permeates the lives of patients and families. The Undiagnosed Diseases Network aims to end this odyssey by providing diagnoses to individuals with undiagnosed conditions through multidisciplinary evaluations, whole exome and genome sequencing, and basic science research. Seven cases are presented that outline challenges that come from working with chronically undiagnosed and newly diagnosed. They illuminate the emotional journey of patients and families searching for a diagnosis and the mental health problems, financial distress, and chaos that can accompany not having answers. They also illustrate the surprising reactions patients and families can have to receiving a diagnosis. While the lessons learned from these families are not novel, new strategies are presented for handling these challenges in undiagnosed and ultra-rare populations, groups that will increase with the rise of clinical sequencing. The full article you can find 
To characterize the timing and pathway of amyotrophic lateral sclerosis (ALS) diagnosis and to identify predictors of delayed diagnosis in a retrospective cohort. The cohort included all patients with incident ALS between 2010 and 2014 in Friuli-Venezia Giulia (FVG) region, Italy, admitted to two University Hospitals. Information on demographics, clinical presentation, and healthcare use was obtained from health databases and electronic medical records (EMRs). Total diagnostic time (TDT), the interval between ALS symptoms onset and diagnosis, was compared between patient groups through Wilcoxon-Mann-Whitney test. In this cohort, delayed diagnosis was common, particularly in older patients and in those with neurological comorbidities. Timely referral to a neurologist may improve diagnostic timing. The full article and the detailed results from the cohort study you can find 
Knowledge on the prevalence of sex chromosome abnormalities (SCAs) is limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. We aimed to investigate change over time in incidence, prevalence and age at diagnosis among Turner syndrome (TS), Klinefelter syndrome (KS), Triple X syndrome (Triple X) and Double Y syndrome (Double Y). The Danish Cytogenetic Central Registry (DCCR) holds information on all karyotypes performed in Denmark since 1961. We identified all individuals in the DCCR with a relevant SCA during 1961-2014; TS: n = 1156; KS: n = 1235; Triple X: n = 197; and Double Y: n = 287. From Statistics Denmark, which holds an extensive collection of data on the Danish population, complete data concerning dates of death and migrations in and out of Denmark were retrieved for all individuals.