Brendan M Buckley Lancet 2008; 371: 2051–55 The development of orphan medicines presents many challenges, the main being to obtain sufficient evidence of effectiveness and safety in patients. Apart from the difficulties of funding clinical trials and recruiting competent investigators, the biggest challenge in trials on rare diseases is to recruit the right patients in adequate numbers. A rigid requirement to do studies that completely satisfy the needs of a classic design would prevent many... [More Info] Posted by: Candace Root
Alain Fischer, Marina Cavazzana-Calvo Lancet 2008; 371: 2044–47 Thousands of rare diseases are caused by a Mendelian genetic error. So far, more than 1800 genes associated with rare diseases have been identified (1) and, in many cases, their expression patterns and functions have been unravelled. This information is a prerequisite for development of a therapeutic strategy. Depending on the disease’s severity, and by assessing feasibility and treatment alternatives, gene therapy can be viewed... [More Info] Posted by: Candace Root
Ségolène Aymé, Anna Kole, Stephen Groft Lancet 2008; 371: 2048–51 The World Bank defines empowerment as the process of increasing capacity of individuals or groups to make choices and to transform those choices into desired actions and outcomes.(1) WHO has described empowerment as a prerequisite for health and a proactive partnership and patient self-care strategy to improve health outcomes and quality of life among the chronically ill. (2) Empowerment is an action-oriented notion with... [More Info] Posted by: Candace Root
Author: Marlene E Haffner, Josep Torrent-Farnell, Paul D Maher
Release Date: Tue 17-Jun-08 2:00 PM
Marlene E Haffner, Josep Torrent-Farnell, Paul D Maher Lancet 2008; 371: 2041–44 Orphan-drug legislation (panel) (1) was intended to make drugs for rare diseases sufficiently profitable to bring to the market. Legislation in both the USA and in the European Union has been effective in meeting that goal. Since the passage of the US Orphan Drug Act in 1983, more than 300 products for rare diseases have received market approval from the US Food and Drug Administration (FDA). (2) This number... [More Info] Posted by: Candace Root
Arrigo Schieppati, Jan-Inge Henter, Erica Daina, Anita Aperia Lancet 2008; 371: 2039-41 Rare diseases affect a limited number of individuals (defined as no more than one in 2000 individuals in the European Union and no more than about one in 1250 in the USA), (1) but the number of disorders that fit this definition is very large (>5000 according to WHO). Therefore, the number of patients affected by a rare disease could be about 30 million in Europe and 25 million in North... [More Info] Posted by: Candace Root
ALEXANDER’S DISEASE Margaret Weis, Ph.D. President, The Myelin Project Professor of Pharmaceutical Sciences Texas Tech University Health Sciences Center School of Pharmcy BACKGROUND: Alexander’s disease is characterized by Rosenthal fibers forming in the astrocytes of the brain. Although astrocytes are not nerve cells (neurons), they help regulate the passage of materials from the blood to the neurons of the brain, and may regulate levels of certain important brain chemicals.... [More Info] Posted by: Candace Root
Charlie Peters, MD X-Linked Adrenoleukodystrophy (X-ALD) ALD is an X-linked disorder of very-long-chain fatty acid (VLCFA) metabolism. The childhood form usually starts at about 7 years. About 90% of these boys also have Addison’s disease. The posterior (back) part of the brain is the most common site for demyelination. Neurologic deterioration occurs in all boys. Deficits can include vision/visual processing, hearing/auditory processing, speech, gait, fine motor skills, and activities of... [More Info] Posted by: Candace Root
Rare diseases: what’s next? Rare diseases are life-threatening or chronically debilitating diseases with a prevalence lower than one per... [More Info] Posted by: Candace Root
Editorial 1972 www.thelancet.com Vol 371 June 14, 2008 Making rare diseases a public-health and research priority On May 30, a... [More Info] Posted by: Candace Root
Press release Hillerød, Denmark , March 10 , 2008 Zymenex gets FDA approval of IND Zymenex has received FDA approval of its... [More Info] Posted by: Candace Root
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