Alpha-1 Antitrypsin Deficiency Treatment Receives Orphan Drug Designation


In June 2019, Dicerna Pharmaceuticals submitted a clinical trial application for their DCR-A1AT therapy and expects to treat the first patient with A1AD-related liver disease near the end of 2020. The company also received Orphan Drug Designation from the European Commission for the treatment of congenital alpha-1 antitrypsin deficiency.

The FDA recently granted DCR-A1AT the Orphan Drug Designation. You can read the full press release on their website.

About Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency (AIAD) is a genetic disorder resulting in low blood levels of the A1AT protein. It caused by a mutation in the SERPINA1 gene. A1AT assists the body in fighting infection by regulating enzymes known as neutrophil elastase. Without regulation, these enzymes can attack healthy body tissue. Additionally, the SERPINA1 mutation prevents A1AT protein from leaving the liver or protecting the lungs.

Because of this, up to 10% of children and 15% of adults with AIAD will develop liver disease. In addition, patients with AIAD are also more likely to develop hepatocellular carcinoma. While there is no direct connection, risk factors for hepatocellular carcinoma, a primary liver cancer, include cirrhosis or other preexisting liver conditions. Read more about hepatocellular carcinoma.

The onset and severity of AIAD varies. However, symptoms can include weight loss, respiratory infections, skin lesions, cirrhosis, and emphysema. As many in the rare disease community know, it can sometimes be difficult to receive a proper diagnosis depending on doctor knowledge and specialist availability. Because of the symptoms displayed by those with alpha-1 antitrypsin deficiency, the National Institute of Health shares that some patients may be misdiagnosed with respiratory conditions such as asthma or COPD.

Learn more about AIAD here.

About DCR-A1AT

Dicerna is a biopharmaceutical company that uses ribonucleic acid interface (RNAi) technologies to treat diseases or disorders with a genetic component. In a Biotechnology Advanced article, RNAi is described as a gene-silencing therapy which attacks or binds to messenger RNA to prevent the translation of mutated genes. Dicerna uses a proprietary RNAi technology platform – GalXC™ – to ensure the most focused and effective treatment. 

What is DCR-A1AT?

DCR-A1AT is a RNAi drug designed to treat liver disease caused by alpha-1 antitrypsin deficiency. The drug is delivered subcutaneously, or beneath the skin.

The goal of this drug is to reduce the production of abnormal A1AT. By reducing the mutated proteins, researchers hope to be able to halt the progression of this condition. Dicerna is currently running a clinical trial to determine the efficacy and safety of DCR-A1AT.

What is Orphan Drug Designation and why is it important?

Orphan Drug designation is given to medical drugs or treatments designed to impact the rare disease community. Drugs receiving this designation are indicated for conditions that affect less than 200,000 people in the United States.  According to the FDA, sponsors (like Dicerna) seeking Orphan Drug Designation receive market exclusivity for seven years, assistance from the FDA in clinical trial designs, and financial incentives such as tax credits.

DCR-A1AT being granted this designation is important because currently, there are no approved treatments for A1AD-related liver disease. Dicerna’s Chief Medical Officer, Ralf Rosskamp, shared:

“The FDA’s orphan drug designation is an important milestone…for DCR-A1AT for alpha-1 antitrypsin deficiency-associated liver disease and underscores the treatment need that exists for this complex disorder.”

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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