Currently, there are an estimated 30 million people in the European Union (EU) who are living with a rare disease. Drug developers are incentivized to create therapies for those within this community through the Orphan Medicines program, which you can learn more about here. To become an Orphan drug, a therapy must be intended to treat, diagnose, or prevent a life-threatening or chronically debilitating illness that affects no more than 5 in every 10,000 people. Additionally, there must either be no current method to treat, diagnose, or prevent this illness – or the Orphan drug must show significant benefit. According to a news release from biotechnology company Recursion, its therapy REC-4881 recently earned Orphan Drug designation for the indication of familial adenomatous polyposis (FAP). 

REC-4881 has also earned both Fast Track and Orphan Drug designations within the United States. The treatment, which is given orally, is a small molecule MEK1/MEK2-inhibitor. It was discovered as a possible therapeutic option for FAP using the company’s proprietary Recursion OS platform. REC-4881 is designed to stop polyp growth and disease progression. Within the next few months, Recursion hopes to launch a Phase 2 study to further evaluate the drug. It is particularly interesting to watch and see what the data shows, especially as FAP currently has no approved treatment options. Thus, REC-4881 could potentially fill a huge unmet need. 

What is Familial Adenomatous Polyposis (FAP)? 

So what exactly is familial adenomatous polyposis (FAP)? This rare inherited syndrome causes hundreds, or even thousands, of precancerous polyps to form in the rectum, large intestine, and/or upper gastrointestinal tract. APC gene mutations cause this condition. In many cases, the mutation is inherited in an autosomal dominant pattern. However, it may also occur spontaneously. The polyps begin to form at a young age. Without treatment – either polyp removal surgery, or partial to complete colon removal – these polyps often turn cancerous by age 40. Symptoms and manifestations can include:

• Hundreds to thousands of adenomatous polyps
• Polyps in the stomach, small bowel, or duodenum
• Anemia (low red blood cell count)
• Dental abnormalities (such as extra teeth or teeth that don’t come in)
• Benign retinal pigment changes
• Osteomas (benign bone growths)
• Desmoid tumors