Rare diseases (RDs) affect a small percentage of the population but can be severely debilitating and life-threatening. Historically, patient groups (PGs) have been the prime movers in raising awareness about these diseases and advocating for national supportive policies. They have also driven relevant research programs. In India too, PGs have made significant contributions to the national RD ecosystem. The objective is to assess the contribution of various Indian RD PGs, we carried out an interview-based study of 19 organizations. This study aims to highlight the origins and achievements of these groups and the challenges that they have faced. Of the 19 PGs, two are umbrella organizations, two are other organizations of national scope and 15 are disease specific groups. 14 interviewees were affected by an RD either directly or through a family member. If reinstated, and properly implemented, this policy could significantly improve RD management in the country. PGs have had a significant role in bringing diagnostics and treatments to India. They have also raised awareness about RDs and related issues such as newborn screening, prenatal diagnostics and genetic counselling. This study highlighted the recommendations of various PGs. The government should address these recommendations and institutionalize the participation of the PGs in formal decision making. For more information click here.
Zynteglo is a medicine used to treat a blood disorder known as beta thalassaemia in patients 12 years and older who require regular blood transfusions. People with this genetic condition cannot make enough beta-globin, a component of haemoglobin, the protein in red blood cells that carries oxygen around the body. As a result, these patients have low red blood cell levels and need frequent blood transfusions. Zynteglo is used in patients who do not completely lack beta-globin and who are eligible for stem cell transplantation but do not have a matching related donor. Beta thalassaemia is rare, and Zynteglo was designated an ‘orphan medicine’ (a medicine used in rare diseases) on 24 January 2013. Zynteglo contains as its active substance stem cells taken from the patients that have been genetically modified to contain a working gene for beta-globin. For more information click here.
The mitochondrial medicine society (MMS) has previously highlighted the clinical landscape and physician practice patterns of mitochondrial medicine in the US and attempted to develop consensus criteria for diagnosis and management to improve patient coordinated care. Most recently, and in collaboration with US-based patient advocacy groups, we developed a clinical care network to formally unify US-based clinicians who provide medical care to individuals with mitochondrial disease; to define, design and implement best practices in mitochondrial medicine building on the current consensus guidelines and to improve patients’ clinical outcomes. Here we review the steps taken in collaboration with several stakeholders to develop goals and expectations for a mitochondrial care network (MCN), criteria for MCN site selection and formal launch of the network. For more information click here.
EU patients still face challenges in benefiting from the actions envisaged by the EU directive on cross-border healthcare, according to a new report by the European Court of Auditors. Only a minority of potential patients are aware of their rights to seek medical care abroad. At the same time, the auditors also found problems and delays in exchanging patient health data electronically between Member States. Moreover, actions to facilitate access to healthcare for rare disease patients need to be improved. For more information click here.
Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to treat the neonatal life-threatening manifestations and has been the cornerstone of treatment for this severe disease. However, burdensome complications occur despite a lifelong diet. For rare diseases, a patient disease specific registry is fundamental to monitor the lifespan pathology and to evaluate the safety and efficacy of potential therapies. In 2014, the international Galactosemias Network (GalNet) developed a web-based patient registry for this disease, the GalNet Registry. The aim was to delineate the natural history of classic galactosemia based on a large dataset of patients. Observational data derived from 15 countries and 32 centers including 509 patients were acquired between December 2014 and July 2018. Most affected patients experienced neonatal manifestations (79.8%) and despite following a diet developed brain impairments (85.0%), primary ovarian insufficiency (79.7%) and a diminished bone mineral density (26.5%). Newborn screening, age at onset of dietary treatment, strictness of the galactose-restricted diet, p.Gln188Arg mutation and GALT enzyme activity influenced the clinical picture. Detection by newborn screening and commencement of diet in the first week of life were associated with a more favorable outcome. A homozygous p.Gln188Arg mutation, GALT enzyme activity of ≤ 1% and strict galactose restriction were associated with a less favorable outcome. For more information click here.
Acromegaly is a rare disease with vocal changes being a common clinical finding. The authors present a very rare case of an opera singer with undetected acromegaly for years, whose tessiture progressively changed from tenor, to baritone, to bass. We analyze the evolution of vocal parameters over the years and the outcome after surgical treatment. For more information click here.
X-linked hypophosphatemia (XLH) is a hereditary disorder characterized by increased renal phosphate wasting, which leads to clinical manifestations of rickets, bone deformities and growth retardation. XLN is transmitted as an X-linked dominant trait, affects both sexes equally and accounts for 80% of familial hypophosphatemic disorders. The disease is frequently manifested during the first two years of life. However, because of extremely variable severity and presentation, the diagnosis may be made late in adolescence and adulthood. Early diagnosis and adequate treatment of XLH is of paramount importance for achieving better disease management outcomes, such as fewer bone deformities, improved growth and better dental health. The study of XLH epidemiology is difficult because of low number of studies in this direction. In the recent years new molecular genetic tests have made possible the precise diagnosis and are now included in some of the studies with XLH patients. This publication aims to analyze the available epidemiological data on X-linked hypophosphatemia, as well as to provide an insight into XLH prevalence in Bulgaria. For more information click here.
Congenital XI factor deficiency is a rare disease caused by autosomal recessive inheritance. Clinically, there are few spontaneous hemorrhages, which can cause abnormal bleeding after trauma, surgery, and tooth extraction. We experienced a colon cancer patient with congenital XI factor deficiency who was successfully treated by laparoscopic approach with the administration of the preoperative fresh frozen plasma (FFP). The patient was an 82-year-old woman who complained of right lower abdominal pain for ap eriod of 2 months with no previous history of abnormal hemostasis. She received colonoscopy and was diagnosed with ascending colon cancer. Preoperative blood tests resulted in prolongation of activated partial thromboplastin time (APTT). After further investigation, factor XI (FXI) activity was found to be abnormal at 3.0% and congenital FXI deficiency was diagnosed. By replenishing FXI by FFP, APTT was improved to 37 s so perioperative abnormal bleeding could be avoided and an operation for ascending colon cancer performed. The patient received laparoscopic ileocolic resection and was discharged on a postoperative day 7 uneventfully. It is important to detect coagulation disorders such as FXI deficiency during routine preoperative checkups, and it is also important to consider unrecognized coagulation disorders if we encounter unexplained abnormal bleeding after surgery or trauma. In patients who have already been diagnosed with FXI deficiency, appropriate treatment including administration of FFP should be considered before surgery, and laparoscopic approach has a possibility to bring safety outcomes as an effect of the reduction of the intraoperative bleeding. For more information click here.
The aim is to describe the specifics of health technology assessment (HTA) of targeted therapies and discuss important issues related to current research methods and application of HTA process in Bulgaria. Analytic study based on literature review and content analysis of HTA guidelines and Bulgarian HTA legislation wеre performed. Specifics of HTA of targeted therapies were analyzed through determining the characteristics of the object and the subject of analysis. Characteristics and types of targeted therapies were defined. Specific features and challenges of HTA of targeted therapies were discussed. The issue of companion diagnostic tests associated with targeted therapies was highlighted. There are important methodological issues of HTA of targeted therapies determined by the object of analysis that should be taken into consideration both in the process of assessment and appraisal of targeted therapies in Bulgaria. For more information click here.
Huntington’s disease (HD) is a rare, hereditary, neurodegenerative and dominantly transmitted disorder affecting about 10 out of 100,000 people in Western Countries. The genetic cause is a CAG repeat expansion in the huntingtin gene (HTT), which is unstable and may further increase its length in subsequent generations, so called anticipation. Mutation repeat length coupled with other gene modifiers and environmental factors contribute to the age at onset in the offspring. Considering the unpredictability of age at onset and of clinical prognosis in HD, the accurate interpretation, a proper psychological support and a scientifically sound and compassionate communication of the genetic test result are crucial in the context of Good Clinical Practice and when considering further potential disease-modifying therapies. We discuss various genetic test scenarios that require a particularly careful attention in psychological and genetic counseling and expect that the counseling procedures will require a constant update. For more information click here.