Each year, January 24 marks International Alagille Syndrome Awareness Day. During this day, organizations across the globe raise awareness around Alagille Syndrome (ALGS), from offering educational resources to allowing patients to share their stories. This year, clinical-stage biopharmaceutical company Mirum Pharmaceuticals, Inc. (“Mirum”) announced, on International Alagille Syndrome Awareness Day, a new awareness campaign centered around this rare liver disease.
ALGS Awareness Campaign
Within their awareness campaign, Mirum hopes to spread education and awareness around ALGS. In particular, they hope to provide doctors and others in the healthcare industry the opportunity to learn about symptoms, diagnostic criteria, and treatment. This is incredibly important as early diagnosis and treatment can benefit patients’ quality of life (QOL). However, as many people in the rare disease community know, the journey to a diagnosis can oftentimes be long and frustrating.
Currently, maralixibat, an investigational treatment for ALGS, is at the top of Mirum’s pipeline. Their rolling New Drug Application (NDA) submission should be done in the first half of 2021. The company itself is continuing to educate itself on resources, genetics, and other opportunities to grow their knowledge.
Caused by JAG1 or NOTCH2 gene mutations, Alagille Syndrome is a rare genetic disorder that can cause multi-organ problems, including the liver, heart, skeleton, eyes, and kidneys. However, one hallmark of this condition is liver disease and liver damage caused by the malformation or narrowing of bile ducts. Heart abnormalities are also common in patients with Alagille Syndrome. An estimated 1 in every 30,000 people has this condition. Additionally, up to 3/4 of all patients will require a liver transplant before adulthood. Symptoms include:
- Pruritus (intense itching)
- Failure to thrive
- Jaundice (yellowing of the skin and eyes)
- Heart murmur
- A broad forehead and deeply set, widely spaced eyes
- Pale stools
- Blocked bile flow
- Low energy
- Butterfly vertebrae
- Xanthomas, or fatty deposits on the skin
- Congenital heart defects
- Malnutrition and, particularly, calcium and zinc deficiencies
Learn more about Alagille syndrome.