Orphanet J Rare Dis
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Orphanet J Rare Dis · Jan 2017
LetterEvolving prevalence of haematological malignancies in orphan designation procedures in the European Union.
The Committee for Orphan Medicinal Products (COMP) evaluates prevalence of rare conditions as one of the criteria for granting an orphan designation with a prevalence threshold of 5 in 10.000. At the time of Marketing Authorisation (MA) these criteria are reassessed to ensure they are still met. The COMP has noted discordance between the prevalence of certain haematological malignancies at the time of Orphan Designation and at the time of Marketing Authorisation. ⋯ Specifically, the prevalence estimates increased from 1.2 to 3.6 per 10,000 for multiple myeloma, from 0.4 to 1.7 in acute lymphoblastic leukaemia, and from 2.7 to 4.85 for chronic lymphocytic leukaemia/small lymphocytic leukaemia and 1 to 2 in 10,000 for chronic myeloid leukaemia. The reasons for the changes in the prevalence of these four haematological conditions over the last 15 years were not assessed but recent publications have alluded to better outcomes due to new treatments being made available. In addition, many orphan diseases have a median age of onset over 60 years so that also the aging of the population may be a relevant contributing factor.
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Orphanet J Rare Dis · Oct 2016
Parents' experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS).
Many rare diseases of childhood are life-threatening and chronically debilitating, so living with a rare disease is an on-going challenge for patients and their families. MPS is one of a range of rare inherited metabolic disorders (IMDs) that come under category 3 of life-limiting conditions, where there is no curative treatment available at present. Although the study of rare diseases is increasingly novel, and of clinical importance to the population, the lack of empirical data in the field to support policy and strategy development is a compelling argument for further research to be sought. ⋯ This study's findings reflect the wider literature on the impact of rare diseases, which have also indicated how caring for someone with MPS, a condition that is chronic, progressive and degenerative can impact on all dimensions of the family's life. Analysis of the findings using a hemenutic pheomenology perspecitve suggest that parents of children with MPS experience multiple cyclical movements across all five human lived existential experience, and they gradually develop ways to incorporate MPS in their day to day life. It was also evident that all the carers in this study experienced a range of uncertainties, with parents using terms such as 'no man's land' and 'future is unknown' to describe their world.
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Orphanet J Rare Dis · Sep 2016
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. The aim of this study was to determine the type and distribution of IEMs in patients presenting to a tertiary care center in Saudi Arabia. ⋯ Our study confirms the previous results of the high rate of IEMs in Saudi Arabia and urges the health care strategists in the country to devise a long-term strategic plan, including an IEM national registry and a high school carrier screening program, for the prevention of such disorders. In addition, we identified 43 novel mutations that were not described previously, which will help in the molecular diagnosis of these disorders.
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Orphanet J Rare Dis · Aug 2016
Whole lung lavage therapy for pulmonary alveolar proteinosis: a global survey of current practices and procedures.
Whole lung lavage (WLL) is the current standard of care treatment for patients affected by pulmonary alveolar proteinosis (PAP). However, WLL is not standardized and international consensus documents are lacking. Our aim was to obtain a factual portrayal of WLL as currently practiced with respect to the procedure, indications for its use, evaluation of therapeutic benefit and complication rate. ⋯ This international survey found that WLL is safe and effective as therapy for PAP. However these results also indicate that standardization of the procedure is required; the present survey represents the a first step toward building such a document.
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Orphanet J Rare Dis · Apr 2016
Assessing the feasibility of a web-based registry for multiple orphan lung diseases: the Australasian Registry Network for Orphan Lung Disease (ARNOLD) experience.
We investigated the feasibility of using an online registry to provide prevalence data for multiple orphan lung diseases in Australia and New Zealand. ⋯ A multi-disease rare lung disease registry was implemented in the Australian and New Zealand health care settings that provided prevalence data on orphan lung diseases in this region but was limited by under reporting.