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Foundation, Biopharm Partner on RNA-Interference Therapy

RNA illustration

RNA illustration (

19 June 2014. Alnylam Pharmaceuticals Inc. in Cambridge, Massachusetts and the Alpha-1 Project in Miami are collaborating on advancing Alnylam’s therapy to treat alpha-1 antitrypsin deficiency, a rare genetic condition responsible for liver disorders and a lung disease similar to chronic obstructive pulmonary disease or COPD. Alpha-1 Project is the for-profit venture division of the Alpha-1 Foundation that provides matching funds for development of treatments for alpha-1 antitrypsin deficiency, but financial aspects of the partnership were not disclosed.

Alpha-1 antitrypsin deficiency results from a mutation in the Serpina1 gene providing instructions to produce alpha-1 antitrypsin, a protein that controls an enzyme called neutrophil elastase for fighting infections. If not controlled, neutrophil elastase  can attack healthy tissue. People with alpha-1 antitrypsin or AAT deficiency experience lung disease, with symptoms similar to asthma, such as wheezing and shortness of breath.

AAT deficiency can also result in emphysema, one form of COPD, from damage to the small air sacs in the lungs. In addition some people with AAT deficiency develop liver disease, resulting in jaundice, cirrhosis, or liver cancer. About 1 in 1,500 to 3,500 individuals with European ancestry have an AAT deficiency.

Alnylam is a biopharmaceutical company founded in 2002 by biomedical researchers from universities and research institutes to develop therapies that harness RNA-interference or RNAi, a process where proteins expressed abnormally from genes can be turned off, thus reducing severity or even occurrence of the disease. RNA is short for ribonucleic acid, a genetic material related to DNA that performs several key functions involved in the expression of genes. Alnylam’s technology commercializes discoveries by its scientific founders harnessing small RNAs that interfere with the expression of abnormal genes, thus turning off production of the disease-causing proteins.

Alnylam is developing an RNAi therapy code-named ALN-AAT that targets AAT deficiency and delivered through the company’s platform it calls Enhanced Stabilization Chemistry. The platform, says the company, makes it possible to administer the RNAi to patients as an injectable medication, delivered under the skin, with a 10-fold increase in potency.

Results of preclinical tests, presented at scientific meetings as recently as last month, with lab rodents genetically modified to induce an AAT deficiency show ALN-AAT able to reduce a surrogate indicator for deficiency levels as much as 90 percent, depending on the dosage. The researchers also found reduced fibrosis and fewer tumors in the livers of the animals receiving ALN-AAT.

Funds from the Alpha 1 project are expected to advance Alnylam’s development of ALN-AAT to the point of an investigative new drug application with the U.S. Food and Drug Administration, which opens the door to clinical trials. The company plans to make that application in mid-2015.

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