Clinical studies are critical tools in identifying and developing therapeutics for a wide variety of conditions. This research is especially important in the rare disease and chronic illness spaces, where smaller patient populations sometimes make research more costly and more difficult. According to Yahoo! Finance, RNA medicines company Wave Life Sciences Ltd. is currently working to develop a novel therapeutic for people living with alpha-1 antitrypsin deficiency (AATD). 

Currently, AATD is treated using pulmonary rehabilitation, augmentation therapy, and (if needed) a lung transplant. However, no available treatments reverse the damage caused by AATD—and none directly address the underlying SERPINA1 gene mutations. 

Wave Life Sciences is attempting to fill this gap in treatment options through WVE-006, which Yahoo! Finance describes as a: 

GalNAc-conjugated RNA editing oligonucleotide…designed to restore circulation of healthy, wild-type alpha-1 antitrypsin protein and reduce dysfunctional Z-AAT protein.

The treatment is administered subcutaneously. So far, WVE-006 has shown promise in preclinical examinations of the treatment. Data shows that WVE-006 improved and restored AAT protein in animal models of this condition. 

Recently, as reported, Wave Life Sciences dosed healthy volunteers with WVE-006 in the RestorAATion clinical trial program. This consists of the first trial with healthy volunteers, followed by another trial that includes people living with AATD. More data will be available next year. This is especially exciting because it stands as the first instance where RNA editing treatments are given to humans.

What to Know: Alpha-1 Antitrypsin Deficiency (AATD)

Alpha-1 antitrypsin deficiency is an inherited disorder which causes AAT deficiency. Normally, AAT acts as a protective agent in your body. It keeps an enzyme called neutrophil elastase from attacking body tissue, preventing damage and inflammation. When the body doesn’t have enough AAT, like in AATD, neutrophil elastase begins to attack areas like the liver, lungs, and skin. It is more common for the liver and lungs to be affected. Identifying AATD in early stages can reduce organ damage. Unfortunately, AATD typically comes with a diagnostic delay, with many people being diagnosed after five to eight years. Symptoms, which manifest between ages 20 to 50, may include:

• Rapid heart rate
• Liver enlargement 
• Panniculitis (hardened skin with painful lumps)
• Abdominal distention
• Jaundice (yellowing of the skin, eyes, and mucous membranes)
• Shortness of breath
• Respiratory infections that keep coming back
• Losing weight without trying or meaning to
• Frequent coughing or wheezing 
• Excessive itchiness
• Dark urine

If you have AATD, smoking can increase the risk of developing serious complications. Please speak with your physician about a smoking cessation plan.