Excerpts From Rare Diseases Newsbriefs website
http://www.rarediseases.org/news/newsbriefs
CETT Increases Access to Genetic Tests
The Office of Rare Diseases of the National Institutes of Health has recently developed a new pilot program to help increase access to genetic tests for rare diseases. The Collaboration Education and Test Translation Program (CETT) is helping to make new genetic tests available to patients and families more quickly than was previously possible by encouraging the formation of collaborative teams that include a clinical laboratory, researcher, expert clinician and advocacy group for a particular rare disorder.
The mission of the CETT Program is to promote the development of new genetic tests for rare diseases; facilitate the translation of genetic tests from research laboratories to clinical practices; establish collaborations and provide education about each rare genetic disease, related genetic research and the clinical impact of testing; and support the collection and storage of genetic test result information in publicly accessible databases to leverage the information into new research and new treatment possibilities.
In the past year, ten new genetic tests for rare diseases have been made available to the public as a result of the CETT Program. The conditions that can now be tested for and the clinical laboratories providing testing are: Joubert syndrome (Prevention Genetics), Cornelia de Lange syndrome (University of Chicago), cherubism (Hospital for Sick Children Toronto), X-linked chondrodysplasia punctata (University of Chicago), Kallman syndrome (GeneDx), progressive familial intrahepatic cholestasis (Baylor College of Medicine), Russell Silver syndrome (Emory University) mucopolysaccharidosis type VI (Emory University), Niemann Pick disease type A/B (Emory University) and X-linked periventricular nodular heterotopia (Harvard University). Information about testing for these conditions is available at www.genetests.org.
Collaborative groups can apply to the CETT Program for funds to aid in the process of developing a new genetic test for a rare disease. For more information, please visit the CETT Program web site at www.cettprogram.org.
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Lev Reports Positive Results in Phase III HAE Trial
Lev Pharmaceuticals has reported positive results from its Phase III trial of C1-esterase inhibitor (C1-INH) for the treatment of acute episodes of hereditary angioedema (HAE). The company is also examining the use of this product in preventing HAE attacks in severely affected individuals. Lev has announced that it plans to file a Biologics License Application (BLA) for this product later this year.HAE is a rare and potentially life-threatening inflammatory condition for which there is currently no FDA-licensed acute therapy in the United States. The disorder is characterized by recurrent episodes of the accumulation of fluids outside the blood vessels, blocking the normal flow of blood or lymphatic fluid and causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract or airway. HAE attacks may be mistaken for allergic reactions. When the airway is affected, the condition may become life-threatening. For information on the HAE clinical trials, contact the company at 675 Third Ave., Suite 2200, New York, NY, 10017l; (212) 682-3096.
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Alexion Pharmaceuticals
Alexion is being honored for the development of Soliris, the first treatment to be approved by the U.S. Food and Drug Administration (FDA) for the rare blood disorder known as paroxysmal nocturnal hemoglobinuaria (PNH). This disorder affects approximately one in a million people. It is characterized by abnormal development of red blood cells. Components of the body’s immune system attack and destroy these abnormal cells, causing anemia and debilitating weakness. In severe cases, the disease may lead to life-threatening heart attacks and strokes.
http://www.rarediseases.org/news/newsbriefs
CETT Increases Access to Genetic Tests
The Office of Rare Diseases of the National Institutes of Health has recently developed a new pilot program to help increase access to genetic tests for rare diseases. The Collaboration Education and Test Translation Program (CETT) is helping to make new genetic tests available to patients and families more quickly than was previously possible by encouraging the formation of collaborative teams that include a clinical laboratory, researcher, expert clinician and advocacy group for a particular rare disorder.
The mission of the CETT Program is to promote the development of new genetic tests for rare diseases; facilitate the translation of genetic tests from research laboratories to clinical practices; establish collaborations and provide education about each rare genetic disease, related genetic research and the clinical impact of testing; and support the collection and storage of genetic test result information in publicly accessible databases to leverage the information into new research and new treatment possibilities.
In the past year, ten new genetic tests for rare diseases have been made available to the public as a result of the CETT Program. The conditions that can now be tested for and the clinical laboratories providing testing are: Joubert syndrome (Prevention Genetics), Cornelia de Lange syndrome (University of Chicago), cherubism (Hospital for Sick Children Toronto), X-linked chondrodysplasia punctata (University of Chicago), Kallman syndrome (GeneDx), progressive familial intrahepatic cholestasis (Baylor College of Medicine), Russell Silver syndrome (Emory University) mucopolysaccharidosis type VI (Emory University), Niemann Pick disease type A/B (Emory University) and X-linked periventricular nodular heterotopia (Harvard University). Information about testing for these conditions is available at www.genetests.org.
Collaborative groups can apply to the CETT Program for funds to aid in the process of developing a new genetic test for a rare disease. For more information, please visit the CETT Program web site at www.cettprogram.org.
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Lev Reports Positive Results in Phase III HAE Trial
Lev Pharmaceuticals has reported positive results from its Phase III trial of C1-esterase inhibitor (C1-INH) for the treatment of acute episodes of hereditary angioedema (HAE). The company is also examining the use of this product in preventing HAE attacks in severely affected individuals. Lev has announced that it plans to file a Biologics License Application (BLA) for this product later this year.HAE is a rare and potentially life-threatening inflammatory condition for which there is currently no FDA-licensed acute therapy in the United States. The disorder is characterized by recurrent episodes of the accumulation of fluids outside the blood vessels, blocking the normal flow of blood or lymphatic fluid and causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract or airway. HAE attacks may be mistaken for allergic reactions. When the airway is affected, the condition may become life-threatening. For information on the HAE clinical trials, contact the company at 675 Third Ave., Suite 2200, New York, NY, 10017l; (212) 682-3096.
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Alexion Pharmaceuticals
Alexion is being honored for the development of Soliris, the first treatment to be approved by the U.S. Food and Drug Administration (FDA) for the rare blood disorder known as paroxysmal nocturnal hemoglobinuaria (PNH). This disorder affects approximately one in a million people. It is characterized by abnormal development of red blood cells. Components of the body’s immune system attack and destroy these abnormal cells, causing anemia and debilitating weakness. In severe cases, the disease may lead to life-threatening heart attacks and strokes.
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FDA Approves First Product for PNH
The U.S. Food and Drug Administration (FDA) on March 16, 2007, approved the orphan drug eculizumab (Soliris) for the treatment of paroxysmal nocturnal hemoglobinuria (PNH), a rare blood disorder that affects approximately one in a million people. It is the first drug to be approved for this disorder.
“This product is important in that it offers a treatment other than blood transfusion that may help this small population of patients who are often very ill,” said Steven Gatson, MD, MPH, director of the Center for Drug Evaluation and Research at FDA. “This approval is one of multiple examples of how the orphan products program can benefit the public health with urgently needed products that would otherwise not be commercially available.”
Soliris was designated an “orphan” drug in 2003. This designation is for products being developed to treat diseases or conditions affecting fewer than 200,000 Americans. The manufacturer who obtains marketing approval for a designated orphan product is given seven years of marketing exclusivity.
PNH is characterized by abnormal development of red blood cells. When the abnormal cells are present in the bloodstream, naturally-occurring proteins that are components of the body’s immune system attack them and break them down. This causes anemia and may result in pain, fatigue, debilitating weakness, the need for frequent blood transfusions, and blood clots. In severe cases, the disease may lead to life-threatening heart attacks and strokes.
Soliris doesn’t cure PNH but it works to halt the destruction of red blood cells. It is a new molecular entity that contains an ingredient not previously marketed in the United States. The drug was developed by Alexion Pharmaceuticals, Inc., of Cheshire, Ct.
Because the drug acts by blocking certain actions within the body’s natural immune system, it carries a potential risk of increasing susceptibility to certain serious infections, particularly meningococcal infections. A special risk management plan has been developed for patients taking the drug to address this risk.
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