Saint Louis University with partners find a cure for rare, genetic liver di

Saint Louis University with partners find a cure for rare, genetic liver disease

Researchers from Saint Louis University's School of Medicine, Arrowhead Pharmaceuticals along with Takeda Pharmaceuticals reported the first effective treatment for the rare gene-related liver disorder.

Alpha1-Antitrypsin (AAT) The deficiency affects one in 3500 births. It can cause lung disease in adults, or liver diseases in children and adults. AAT is an amino acid that is produced by the liver and then released into blood in large amounts. It assists in protecting the body in the event of an infection.

The symptoms of the deficiency could consist of shortness in breath, wheezing, frequent infections of the lungs, skin that is yellow and fatigue, or even death.

The only treatment available for this illness, prior to study was the transplant of the liver.

SLU School of Medicine and Industry Partners discovered the first successful drug to combat the condition. The study "Fazirsiran to Treat Liver Disease associated with Alpha1 Antitrypsin Deficiency," was published in the New England Journal of Medicine.

Phase 2 of the study aimed to determine the safety and effectiveness of fazirsiran which is an RNA interference drug for patients between the ages of 18 and 75 old who suffer from liver diseases that are caused by alpha1-antitrypsin deficiencies.

"This represents the result of nearly 10 years of effort to treat this disease and a large portion of the research was conducted in the SLU," said Teckman, who is also the Director of Pediatric Gastroenterology as well as hepatology at SLU. "We see patients from all over the country to visit our highly skilled faculty members in the SSM Health Cardinal Glennon Children's Hospital suffering from this condition to get treatment and to take part in our research."

Jeffery Teckman M.D. Jeffery Teckman, M.D. an associate professor of pediatrics as well as molecular and biochemistry who also wrote the study.

Teckman stated that a lot of the people who suffer are not diagnosed or mistakenly diagnosed with other conditions. They could be suffering from asthma, fatty liver disease or smoking-related lung diseases.

"When my medical education began I discovered that reducing liver fibrosis or scar tissue that forms in the liver, caused by AAT deficiency was nearly impossible however, we now know how we could reverse the condition in humans, with very little side effects" Teckman said.

In the coming weeks, the team will broaden the scope of the study to include adult patients as well as children.