Research and Pipeline

Vertex is focused on discovering, developing and commercializing innovative medicines so people with serious diseases can lead better lives. Our scientists don’t see the impossible as an obstacle; they see it as a good place to start.

These studies are investigating treatments or outcomes that have not all received approval from a health authority. The information presented is not intended to convey conclusions of safety or efficacy. There is no guarantee that the outcome of these studies will result in approval by a health authority. 

About Alpha-1 Antitrypsin Deficiency

What is alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin deficiency (AATD) is an inherited disease that can cause damage to the lungs and the liver. Many people with AATD develop lung disease (most commonly emphysema) and develop symptoms such as wheezing or shortness of breath. These symptoms can progress to advanced lung disease. Liver damage can cause swelling in the legs or other parts of the body and jaundice, and can progress to advanced liver disease. There is currently no cure for AATD or treatment that targets the underlying cause of disease. Treatments are aimed at alleviating symptoms and preventing disease progression. Even with treatment, people living with AATD experience recurring hospital visits and a shortened life expectancy. 

How is AATD diagnosed? AATD is often diagnosed with a blood test that shows low alpha-1 antitrypsin (AAT) levels, and genetic testing to confirm the diagnosis and identify the mutation. Many people living with AATD are not diagnosed until adulthood because it is often underdiagnosed or misdiagnosed as a different lung or liver disease.  

What is the underlying cause of disease? AATD is caused by changes in the SERPINA1 gene that encodes the AAT protein. In the most common form of AATD, these changes to SERPINA1 cause the body to produce defective AAT that becomes trapped inside cells, resulting in low levels in the blood and tissues. Low blood levels of AAT can permit inflammation and result in damage to healthy tissues, especially the lung. The accumulation of defective AAT trapped in the liver (where most AAT is made) can also cause liver disease.  

The Vertex Approach 

We are focused on discovering and investigating medicines aimed at treating the underlying cause of alpha-1 antitrypsin deficiency. Although severe AATD was discovered in 1963, and the misfolding defect seen in its most common variant was described over 20 years ago, there are still no effective treatments for the combined manifestations of the disease. We are building on our pioneering research with protein folding correction in cystic fibrosis to develop medicines with the potential to treat people with AATD.  

We are investigating the use of small molecules, which have the potential to address the underlying cause of disease and impact the lung and liver disease associated with AATD. We are currently investigating candidate medicine VX-864, and continue to discover and develop a portfolio of medicines for the potential treatment of AATD.  

Pipeline

Alpha-1 Antitrypsin Deficiency (AATD)

VX-864
Phase 2

We are focused on discovering and investigating medicines aimed at treating the underlying cause of alpha-1 antitrypsin deficiency. Although severe AATD was discovered in 1963, and the misfolding defect seen in its most common variant was described over 20 years ago, there are still no effective treatments for the combined manifestations of the disease. We are building on our pioneering research with protein folding correction in cystic fibrosis to develop medicines with the potential to treat people with AATD.

We are investigating the use of small molecules, which have the potential to address the underlying cause of disease and impact the lung and liver disease associated with AATD. We are currently investigating candidate medicine VX-864, and continue to discover and develop a portfolio of medicines for the potential treatment of AATD.

 

LEARN MORE ABOUT ALPHA-1 ANTITRYPSIN DEFICIENCY

Our Studies

In 2020, Vertex initiated a Phase 2 study evaluating VX-864 in subjects with the PiZZ genotype. To learn more, visit clinicaltrials.gov.

See trial qualifications here

News

For information from Vertex on alpha-1 antitrypsin deficiency, please visit the Newsroom