Hereditary ATTR Amyloidosis
Transthyretin amyloidosis (ATTR) is caused by transthyretin (TTR) proteins that fold improperly, leading to an irreversible buildup of amyloid fibrils in tissues and multiple organs throughout the body. While there is a more common wild-type form of ATTR amyloidosis, the hereditary form is more rare, tends to present at an earlier age, and is caused by a gene that can be passed down within families from generation to generation.
Hereditary ATTR amyloidosis is a rare disease that progressively robs people of their ability to function, and ultimately, their lives. It is characterized by multisystemic and variable symptoms, which may lead to polyneuropathy and autonomic neuropathy, including complications across organ systems including the heart, kidney, and gastrointestinal system, leaving patients unable to drive, dress themselves, work, or move around without a cane or wheelchair.
Although the exact prevalence is difficult to determine, there are an estimated 50,000 patients with hereditary ATTR amyloidosis worldwide and an estimated 200,000 patients with wild-type ATTR amyloidosis worldwide.
Unfortunately, hereditary ATTR amyloidosis is often not suspected or diagnosed, leading to visits to multiple specialists, years of searching for answers and sometimes even inappropriate treatment for a misdiagnosis.
Genetic testing is the only way to separate the hereditary form of ATTR amyloidosis from the wild-type version. Hereditary ATTR amyloidosis is an autosomal dominant genetic disease, meaning that every child of an affected patient has a 50 percent chance of having the same gene mutation.
Because early diagnosis may influence outcomes for people with hereditary ATTR amyloidosis, genetic testing is critical to understanding each family member’s risk. Those who are aware of their mutation status can take an active role in their care, making informed decisions and identifying appropriate management options before the disease worsens. Genetic testing should be an important consideration for anyone with a family history of hereditary ATTR amyloidosis, or those who are experiencing symptoms of polyneuropathy.
With the introduction of innovative medications for hereditary ATTR amyloidosis, patients now have targeted treatment options that block abnormal TTR proteins from forming, which can slow or prevent disease progression.
Currently, Akcea has one marketed product that has been approved in the United States, Canada, Europe, and Brazil in this space.
AKCEA-TTR-LRx is an investigational compound and has not yet been approved by any regulatory body. Akcea initiated two Phase 3 studies of AKCEA-TTR-LRx to treat the broad population of patients with both hereditary and wild-type forms of ATTR amyloidosis.