Alpha 1 Antitrypsin Deficiency

Causes

Alpha-1 antitrypsin deficiency is congenital lack of a primary lung antiprotease, alpha-1 antitrypsin, which leads to increased protease-mediated tissue destruction and emphysema in adults. Hepatic accumulation of abnormal alpha-1 antitrypsin can cause liver disease in both children and adults.

 

Symptoms and Signs

Neonates with hepatic involvement present with cholestatic jaundice and hepatomegaly during the first week of life; jaundice usually resolves by 2 to 4 mo of age. Cirrhosis may develop in childhood or adulthood. Adults with emphysema have symptoms and signs of COPD, including dyspnea, cough, wheezing, and prolonged expiration.

 

Diagnosis

  • Serum alpha-1 antitrypsin level
  • Genotyping

Prognosis

As a group, people with severe alpha-1 antitrypsin deficiency who have never smoked have a normal life expectancy and only moderate impairment of pulmonary function. The most common cause of death in alpha-1 antitrypsin deficiency is emphysema, followed by cirrhosis, often with hepatocellular carcinoma.

 

Treatment

  • Supportive care
  • For pulmonary disease, often alpha-1 antitrypsin replacement
  • Gene therapy is under study

Research Alpha 1 Antitrypsin: the Redwood Study is a Phase 3 clinical study

The purpose of the Redwood Study is to evaluate the safety and effectiveness of an investigational study medicine, called TAK-999 (fazirsiran), in adults 18 to 75 years of age with Alpha-1 Antitrypsin Deficiency–Associated Liver Disease, also referred to as Alpha-1 Liver Disease or AATD Liver Disease.

Goal

There is currently no approved treatment available for Alpha-1 Liver Disease. The investigational study medicine, TAK 999, aims to reduce production of the abnormal Z-AAT protein and its buildup in the liver. The reduction in levels of the protein may result in a decrease in liver scarring.

Who May Be Eligible

People between 18 and 75 years of age, and their family members with a confirmed or suspected diagnosis of Alpha-1 Liver Disease (AATD-LD with PiZZ mutation), may be eligible for this study.

More Information

To learn more please visit https://theredwoodliverstudy.com/select-region
You will find here additional disease and study information and if your region/country is involved in the study.