Rare Diseases (Rare Disease)

12/01/2005 - "Further studies in patients with this rare disease are needed to confirm this association and to evaluate the efficacy of antiviral and immunoglobulin treatment."
01/01/2014 - "Monoclonal immunoglobulin deposition disease (MIDD) is a rare disease, usually manifesting between the 5(th) and 6(th) decades of life but can also occur earlier. "
01/01/2013 - "Here we report two cases of patients with paratesticular fibrous pseudotumor to highlight the clinical features of this rare disease and we report the immunohistochemical examinations to support the theory of paratesticular fibrous pseudotumor being an immunoglobulin G4-related disease. "
07/01/2010 - "This report highlights the extremely difficult clinical management of this rare disease and the important improvement provided by intravenous immunoglobulin."
03/01/2012 - "Cryoglobulinemia is a rare disease characterized by the production of monoclonal or polyclonal immunoglobulins that precipitate in cold temperature. "

01/29/2011 - "Safe and effective adjuvants are needed for many vaccines with limited commercial appeal, such as vaccines to infrequent (orphan) diseases or to neglected and poverty-related diseases. "
01/01/2013 - "The model confirmed that, for rare diseases, the economically justifiable prices of vaccines could be substantially lower than drug prices, and that, for diseases spread across multiple cohorts, the revenues derived from vaccinating one cohort per year (routine vaccination) could be substantially lower than those generated by treating sick individuals. "
11/01/1999 - "Nevertheless, for humanitarian reasons, there is a need to develop niche vaccines for rare diseases not preventable or curable by other means. "
01/01/2014 - "tularensis is classified as a category A bioterrorism agent, and no vaccines have been licensed in the United States, but tularemia is a rare disease. "
10/01/2014 - "After antibiotics and vaccines became available and living standards in affluent countries improved, its resulting reduced prevalence meant bronchiectasis was considered an 'orphan disease'. "

01/01/2011 - "To assess the potential impact of improved AA accessibility, we devised clinical development programs using proposed clinical or surrogate endpoints for fifteen rare disease treatments. "
10/01/2015 - "The validation of genetic association in large independent cohorts is a key process for rare diseases in order to qualify prognostic biomarkers and stratify patients in clinical trials. "
08/01/2014 - "Clinical trials are now focusing on progressively smaller subgroups within both common and rare disease populations, often based on genetic tests or biomarkers. "
01/01/2013 - "In contrast, oncology drugs that are approved for the treatment of rare diseases (orphan drugs) are based on small studies which are often carried out without blinding, are not randomised and investigate surrogate endpoints. "
08/01/2012 - "This phase 1 trial of rhASM in adults with ASMD provided a unique opportunity for a prospective assessment of hepatic and skin pathology in this rare disease and their potential usage as pharmacodynamic biomarkers."

10/01/2004 - "The process of economic evaluation of treatment for idiopathic pulmonary arterial hypertension is challenging due to limitations common to clinical studies in rare diseases, such as small patient numbers limiting survival information, lack of directly comparable trials for the efficacy of different drugs and a paucity of quality of life measurements. "
11/01/2015 - "Scleroderma-associated pulmonary arterial hypertension (SSc-PAH) is a rare disease characterized by a very dismal response to therapy and poor survival. "
06/01/2015 - "Pulmonary arterial hypertension (PAH) is a rare disease, but it boasts significant morbidity and mortality. "
03/15/2015 - "Pulmonary arterial hypertension (PAH) is a rare disease that could be inherited with an autosomal dominant pattern. "
01/01/2015 - "Pulmonary arterial hypertension (PAH) is a rare disease but with significant morbidity and high mortality. "

01/01/2014 - "Although it is a rare disease, general and plastic surgeons must be on alert to avoid complications and misdiagnosis. "
04/01/2015 - "Plastic bronchitis (PB) is a rare disease characterized by formation of bronchial casts. "
12/01/2013 - "Though a rare disease, plastic surgeons should be aware of the entity of Behcet's disease and its complications of tissue atrophy that may require reconstructive surgery. "
01/01/2013 - "Plastic bronchitis is an extremely rare disease characterized by the formation of tracheobronchial airway casts, which are composed of a fibrinous exudate with rubber-like consistency and cause respiratory distress as a result of severe airflow obstruction. "
03/01/2010 - "Mediastinal inflammatory pseudotumor is a rare disease with reactive pseudoneo-plastic features and a proven capacity for local invasion. "

12/01/2015 - "This review provides an overview of the candidates currently in the pharmaceutical pipeline with potential to treat orphan diseases and discusses the molecular mechanisms triggered by complement involved with the disease pathogenesis. "
12/01/2013 - "Understanding of prototypic monogenic 'orphan' diseases cannot only provide treatment options for the affected patients but also inform on immunological mechanisms and complement the functional understanding of the pathogenesis of IBD. "
04/01/2011 - "Inherited complement deficiency is a rare disease. "
07/01/2009 - "Deficiencies in complement components are rare diseases whose diagnosis is often underestimated. "
11/01/2002 - "As a complement to basic research, thorough clinical investigation of rare diseases may provide fundamental elements which improve our understanding of still obscure pathophysiologic mechanisms. "

07/01/2007 - "Our case is the first to report a role for imatinib and to show complete pathological remission in this rare disease. "
03/20/2012 - "It confirms anecdotal evidence that imatinib has antitumor activity in this orphan disease, and therefore, it is worth further investigation."
01/01/2009 - "Chronic Myeloid Leukemia (CML), a rare disease, can be treated effectively, but the pharmaceutical treatment available (imatinib) is costly and unaffordable by most patients. "
09/01/2009 - "We studied the efficacy and pharmacokinetics of imatinib mesylate (IM) and bcr-abl expression in a Philadelphia chromosome-positive acute myeloid leukemia (Ph + AML) patient, a rare disease with a poor prognosis. "
01/01/2014 - "The prevalence of patients with gastrointestinal stromal tumourgst (GIST) who fail currently available treatments imatinib and sunitinib (third-line treatment-eligible GIST) is unknown, but is expected to be below an ultra-orphan disease threshold of 2/100,000 population used in England and Wales. "

11/01/2015 - "The pulmonary vasculature - lessons from Tibetans and from rare diseases of oxygen sensing."
11/01/2015 - "Platypnea-orthodeoxia syndrome is a rare disease characterized by dyspnea and oxygen desaturation in the upright position with improvement in the supine position. "
11/01/2015 - "This review is principally concerned with results from studies of the pulmonary vasculature in humans, particularly in relation to hypoxia and rare diseases that affect oxygen sensing. "
05/01/2005 - "Congenital methemoglobinemia is a rare disease which is characterized by a brutal appearance, in early infancy, of a bluish skin color not regressing with oxygen inspiration, and by a good general state. "
11/01/2015 - "Experimental work in humans demonstrates that manipulation of iron stores can influence the behaviour of the pulmonary circulation during hypoxia, in ways analogous to that seen in Tibetans and patients with rare diseases that affect oxygen sensing. "

11/01/2012 - "Since MTC is a rare disease, for which no previous medical therapies are approved, vandetanib is the first drug shown to be effective in a large phase III trial treating patients with metastatic or locally advanced MTC. "
02/10/2010 - "These results demonstrate that vandetanib may provide an effective therapeutic option in patients with advanced hereditary MTC, a rare disease for which there has been no effective therapy."
03/01/2013 - "Vandetanib, namely Caprelsa®, was also considered as a relevant drug since it represents the first drug approved to treat particularly aggressive medullary thyroid cancer, an orphan disease. "

07/01/2009 - "For our patient with this rare disease combination rituximab therapy was one treatment solution to two diseases."
06/01/2010 - "At a follow-up of 30 months after treatment, the patient is still in continuous complete remission without any further treatment, suggesting that rituximab may induce prolonged remissions and eventually cure in this rare disease."
09/01/2013 - "We conclude that more clinical trials on the off-label use of rituximab are needed, although these may be difficult to conduct in some rare diseases. "

12/01/2012 - "While MDS was only recently viewed as an orphan disease without any FDA approved therapeutic options, the landscape has changed dramatically with a promise for development of exciting new therapeutics that parallels our growing understanding of the pathobiology of the disease. "
07/01/2011 - "In this study, we will review some of these issues and the current methodologies adopted or proposed to overcome them and translate chemical and biological discoveries into safe and effective orphan disease therapeutics."
03/01/2014 - "Alternative methodological approaches, including natural history studies, adaptive clinical trial designs, and epidemiological studies using patient-organized registries, show substantial promise for the study of rare disease therapeutics. "
02/25/2015 - "Here, we evaluate the potential risks and rewards of investing in a portfolio of rare-disease therapeutics. "
01/01/2015 - " white paper proposes a scientific framework for assessing biomarker endpoints to enhance the development of novel therapeutics for rare and devastating diseases currently without adequate treatment and is based on the opinions of experts in drug development and rare disease patient groups. "

11/01/2008 - "Because PAH is a rare disease, it is difficult to adequately power therapeutic trials to evaluate significant morbidity or mortality differences between various drug therapies. "
04/10/2015 - "Therapeutic gene silencing promises significant progress in pharmacotherapy, including considerable expansion of the druggable target space and the possibility for treating orphan diseases. "
01/01/2015 - "Pharmacotherapy of 'orphan diseases', for which there are no registered medicinal products, also becomes an essential issue as it forces doctors into 'off-label' prescriptions. "
08/01/2013 - "Rare diseases in Italy: analysis of the costs and pharmacotherapy."
08/01/2013 - "Although limited by a small sample size and retrospective analysis, in the context of a rare disease, this experience suggests neoadjuvant chemotherapy as a standard approach in treating SCUC."

03/01/2009 - "Case-finding strategies may be considered a useful tool for diagnosis of this rare disease that may be somewhat more prevalent among kidney transplant recipients compared with dialysis populations."
10/01/2003 - "It is a rare disease in renal transplant recipients and frequently reported together with other infectious agents. "
11/01/1998 - "Childhood MDS is a rare disease, and the data on intensified cytotoxic treatment and transplantation are scarce. "
03/01/2009 - "Although FHF is a relatively rare disease affecting approximately 2000 patients per year in the United States, it is associated with high morbidity and mortality without transplantation yet only 25% of patients in the United States undergo liver transplantation. "
03/01/2013 - "As myelofibrosis is an extremely rare disease, randomized clinical trials specifically investigating the role of transplantation in myelofibrosis are unlikely to occur, thus current decision making processes are best guided by retrospective analyses from registry databases and single institution experiences."

09/07/2015 - "While the role of radiation therapy in the treatment of hidradenocarcinoma has not been well established, this case report demonstrated the potential benefit of external beam radiotherapy in the management of this rare disease. "
12/01/2013 - "Multicenter prospective studies are necessary to clarify the management and the correct timing of radiotherapy in such a rare disease."
09/01/1988 - "An attempt is made to find out the value of radiotherapy in the treatment of this rare disease. "
06/01/1987 - "Still, the role of radiotherapy in the control of this rare disease remains to be established. "
07/01/2015 - "Surgery, chemotherapy, and radiotherapy have been used alone or in combination for the treatment of this rare disease. "

01/01/2015 - "Drug repositioning studies have demonstrated success in complex diseases requiring improved therapeutic interventions as well as orphan diseases without any known treatments. "
07/01/2011 - "The advantages of this approach are manifold, but rational drug repositioning for orphan diseases is not trivial and poses several formidable challenges--pharmacologically and computationally. "
07/01/2011 - "Drug repositioning for orphan diseases."