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The EU LeukoTreat program aims to connect, enlarge and improve existing national databases for leukodystrophies (LDs) and other genetic diseases affecting the white matter of the brain. Ethical issues have been placed high on the agenda by pairing the participating LD expert research teams with experts in medical ethics and LD patient families and associations. […]
…Ethical, legal and social implications of rare diseases and orphan drugs in Europe (Brocher symposium) Geneva, Switzerland 18-19 April 2013 As part of the Scientific Program of the Fondation Brocher, a two-day symposium on orphan drugs and rare diseases was held on the shores of Lac Leman in Geneva. Specific focus was on the ethical, […]
…Wolfram, Alstrom and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. We […]
…National Plans for Rare Diseases (RDs) are the common denominator of current public health policy concerns on RDs across the EU. With the aim of a better distribution of the available resources, they conjugate the European objective that aims at ensuring that patients with RDs have access to high-quality care – including diagnostics, treatment and […]
…Aims:To evaluate the Australian Paediatric Surveillance Unit (APSU). Methods:We used criteria recommended by the Centres for Disease Control and Prevention (CDC) for evaluating surveillance systems and reviewed productivity, response rates, completeness of the mailing list and impacts of APSU studies. Anonymous evaluation questionnaires were sent to 1260 reporting clinicians, 42 researchers and 86 public health […]
…The conventional criteria for evaluating genetic tests include analytic validity, clinical validity, and clinical utility. Analytical validity refers to a test’s ability to measure the genotype of interest accurately and reliably. Clinical validity refers to a test’s ability to detect or predict the clinical disorder or phenotype associated with the genotype. Clinical utility of a […]
…Doubts have been expressed about whether standard methods of health technology assessment are suitable for the evaluation of drugs for rare diseases. Under conditions of rarity, it may be more difficult to conduct large randomized trials in order to gather adequate evidence on efficacy, and the standard methods of economic evaluation may not adequately reflect […]
…This chapter discusses the meaning of evidence-based medicine and where it relates to randomised controlled trials, but also where it does not. The need for good quality evidence is stressed through a discussion of high failure rates in drug development and arguments against access to unlicensed (and largely untested) treatments are set out (despite the […]
…The randomized, controlled trial (RCT) is the “gold standard” for establishing the effect of any intervention. This approach, however, is often not feasible with rare diseases such as cutaneous T-cell lymphoma.We review the principles of evidence-based medicine to see which are particularly pertinent to the study of rare diseases.When an RCT is not feasible, attention […]
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