Belfast baby in Manitoba for experimental drug treatment CBC.ca, Canada - An infant girl from Ireland is receiving experimental treatment in Winnipeg, as part of an international drug trial. The nine-month-old baby from Belfast in ...
Scrutiny Grows of Drug Trials Abroad Wall Street Journal - He termed such problems "very rare," and said monitoring of international trials has substantially improved over the past decade. ...
Treatment of Thrombosis National Alliance for Thrombosis and Thrombophilia (press release), NY - 52 minutes ago The disadvantages of heparin include the need for frequent blood tests to check the levels of anticoagulation and hospitalization to get an IV drug. ...
Prescription drug abuse on the rise BurlingtonFreePress.com, VT - Nov 30, 2008 ?Prescription drugs used to treat pain are very effective and important,? said Deputy Health Commissioner Barbara Cimaglio. ?Used improperly, they can be ...
Drugs you can't have Stuff.co.nz, New Zealand - Nov 30, 2008 There is an unmet clinical need for effective drugs to treat Alzheimer's disease. However, these drugs may have a small (if any) clinical benefit in terms ...
Drug screenings take center stage Battle Creek Enquirer, MI - "And then, we can determine those drugs through further testing." Komarck said it is "extremely rare" for a test to get a positive result and then come back ...
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Recent News and Articles on the Keywords: rare disease + diseases + genetic Related to the article below (Last Update: 8/5/2008)
A rare glimpse of schizophrenia's genetic roots eMaxHealth.com, NC - The delusions and hallucinations of schizophrenia can be devastating for the 1% of the population struck by the disease. The condition clearly has a genetic...
Male dominance is no guarantee of genetic success New Scientist (subscription), UK - Wars, climate change, and diseases have all sent dominant males careening off their pedestals, he says. Genetics - Keep up with the pace in our continually ...
Money raised for rare bone disease KCOY.com, California - Aug 3, 2008 FOP -- or Fibrodysplasia Ossificans Progressiva -- is a rare genetic disease which causes muscles and other connective tissue to turn into bone, ...
Genetic Factors Behind Schizophrenia Identified Oneindia, India - Aug 4, 2008 "When one of these rare genetic variations is present in a person, the result is a moderate to large increase in disease risk. ...
[PDF]Meta-analysis of genetic association studies supports a contribution of common variants to … - KE Lohmueller, CL Pearce, M Pike, ES Lander, JN … - Nature Genetics, 2003 - psychosomatic.org ... diabetes) greatly overestimated the actual genetic effect, to ... higher risk of common disease and thus ... enough published association studies with rare variants to ... -
Are Rare Variants Responsible for Susceptibility to Complex Diseases? - JK Pritchard - The American Journal of Human Genetics, 2001 - Elsevier ... be determined by a mixture of genetic factors (ie ... alleles that are necessary or
sufficient for disease. ... some complex traits, there are also rare Mendelian forms ...
On the allelic spectrum of human disease - DE Reich, ES Lander - Trends in Genetics, 2001 - Elsevier ... 1 provides a more complete list of rare and common geneticdiseases, indicating
that the theory is not too bad at predicting allelic diversity (see also Fig. ...
Rare genetic mutations shed light on the pathogenesis of Parkinson disease - TM Dawson, VL Dawson - Journal of Clinical Investigation, 2003 - pubmedcentral.nih.gov ... Copyright ? 2003, American Society for Clinical Investigation. Raregenetic
mutations shed light on the pathogenesis of Parkinson disease. ...
[PDF]Searching for genetic determinants in the new millennium - NJ Risch - Nature, 2000 - hg-wen.uchicago.edu ... Non-allelic genetic heterogeneity is a form of multi ... alleles at each locus are
typically rare and independently capable of producing disease. ... -
[BOOK] Human genetics: problems and approaches F Vogel, AG Motulsky - books.google.com ... structure, cognitive faculties, and possibly hu- man social behavior may be at least
as important as genetic variation affecting health and disease. ...
[PDF]Pharmacogenetics and the practice of medicine - AD Roses - Nature, 2000 - mendel.ugr.es ... But a rare and severe form of diabetes mellitus ... In this case, the genetic data followed
validation ... The identification of disease-susceptibility genes and study ... -
Genome-wide association studies for common diseases and complex traits - JN Hirschhorn, MJ Daly - Nature Reviews Genetics, 2005 - nslij-genetics.org ... 32 .Therefore,any indi- vidual genetic variant will ... some of these well-established disease-susceptibility alleles ... common alleles,as well as rare alleles,will ...
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Drug Approved to Treat Rare Genetic Disease
WASHINGTON (AP) -- The first drug treatment for the rare but potentially deadly inherited disease Hunter Syndrome was approved Monday by the Food and Drug Administration.
Shire Human Genetic Therapies of Cambridge, Mass., manufacturer of Elaprase, said it plans to have the drug available in the United States within 30 days.
The FDA approved Elaprase, also known as idursulfase, as an "orphan" drug. Orphan drugs are developed to treat illnesses that affect relatively small numbers of people and the manufacturer is granted a seven-year period of exclusive marketing.
Treatment is estimated to cost $300,000 per patient per year, according to Shire.
The FDA said Hunter Syndrome is diagnosed in approximately one out of 65,000 to 132,000 births.
"Regulatory approval of Elaprase will enable physicians to move needy patients beyond palliative care and make Hunter Syndrome a treatable disease," said Dr. Joseph Muenzer of the University of North Carolina at Chapel Hill, who conducted many of the trials of the product.
The illness affects mainly males, usually being diagnosed between the ages of 1 and 3, and makes the body unable to break down complex sugars.
Shire said Elaprase, which is given as a weekly infusion, replaces the missing enzyme that Hunter Syndrome patients fail to produce in sufficient quantities and can slow or stop progression of the disease.
Symptoms of the syndrome include growth delay, joint stiffness, coarsening of facial features and, in severe cases, patients experience respiratory and cardiac problems, enlargement of the liver and spleen, neurological deficits and death.
FDA said the new drug was approved following a placebo-controlled study of 96 patients with Hunter Syndrome. Treated participants had an improved capacity to walk and at the end of the 53-week trial, patients who received Elaprase infusions experienced on average a 38-yard greater increase in the distance walked in six minutes compared to the patients on placebo.
However, some serious side effects were reported including hypersensitivity reactions that could be life-threatening, the agency said. These included respiratory distress, drop in blood pressure and seizure.
Because of the potential for severe hypersensitivity reactions, appropriate medical support should be readily available when Elaprase is administered, FDA said.
