In the United States, Orphan Drug designation is granted to drugs or biologics which show promise in treating patients with rare and life-threatening conditions. For the purpose of this article – and for the designation itself, “rare” conditions are defined as those affecting 200,000 Americans or less. Once a drug developer earns this status, they also receive benefits such as fee waivers, tax credits, increased regulatory assistance, and 7 years of market exclusivity upon approval. According to a recent news release from biotechnology company Recursion, the company’s drug candidate REC-4881, designed to treat patients with familial adenomatous polyposis (FAP), earned Orphan Drug designation.

REC-4881

So what exactly is REC-4881? This non-ATP-competitive allosteric MEK1/MEK2 inhibitor is orally administered. MEK inhibitors bind to MEK, stopping MEK-dependent cells from signaling. Since some of these cells play a role in tumor growth, REC-4881’s cell signal prevention causes cell apoptosis (death) and prevents tumors from growing. In fact, researchers even believe that this treatment could reduce FAP tumors. As no FDA-approved therapies for FAP currently exist, REC-4881 has the potential to fill a massive unmet need within this patient population.

Moving forward, Recursion hopes to initiate a Phase 2 clinical trial. During the trial, researchers will evaluate the safety, efficacy, and pharmacokinetic profile of REC-4881 in patients with FAP.

Familial Adenomatous Polyposis (FAP)

Familial adenomatous polyposis (FAP) is a rare inherited condition caused by APC gene mutations. Because FAP is inherited in an autosomal dominant pattern, patients must receive only one defective gene to inherit this condition. However, not all patients with FAP inherit this. In fact, an estimated 25% of diagnoses result from spontaneous gene mutations. This condition causes extra tissue (polyps) to form in the upper gastrointestinal tract, rectum, and large intestine. By age 16, patients may have hundreds – or even thousands – of precancerous polyps. While the polyps themselves are not cancer, most will progress to cancer by age 40 without colectomy treatment. Symptoms and characteristics include:

• Soft tissue tumors
• Polyps in the stomach, small bowel, and duodenum
• Osteomas (bony growths often found on the jaw)
• Congenital hypertrophy of the retinal pigment epithelium (CHRPE)
• Extra, missing, or unerupted teeth
• Desmoid tumors