Have you ever heard of CD55-deficient protein-losing enteropathy? This rare condition, which is also called CHAPLE disease, was only identified in the past 10 years. Right now, there are only 100 known people diagnosed with this condition. CHAPLE stands for Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy. It occurs due to mutations in the CD55 gene. Normally, our body’s complement system plays a role in immune health, inflammation, and removing microbes from the body. The gene mutations associated with CHAPLE disease cause the complement system to become overactive, leading to blood vessel, lymph vessel, and healthy cells being damaged.
Symptoms of CHAPLE disease often begin in infancy. These symptoms can be debilitating and significantly impair quality-of-life, with some complications also becoming potentially fatal. Those affected may experience:
- Poor nutrient absorption
- Abdominal pain
- Nausea and vomiting
- Growth impairments
- Hypoalbuminemia
- Diarrhea
- Lung infections
- Facial swelling due to fluid buildup
- Blood clots that form in arteries and stop blood flow
Because of the small population size, and the relatively new nature of the disease, those affected previously had minimal ways to manage their condition – until now. According to reporting from Ian Ingram of MedPage Today, the U.S. Food and Drug Administration recently approved Veopoz (pozelimab) for people ages 1+ with CHAPLE disease.
Approving Veopoz for CHAPLE Disease
Developed by Regeneron Pharmaceuticals, Veopoz is a fully human monoclonal antibody that targets complement factor C5, part of the complement system. It is administered intravenously for a loading dose, followed by weekly subcutaneous maintenance doses. Prior to its approval, the drug earned Orphan Drug, Rare Pediatric Disease, and Fast Track designations from the FDA. Learn more about Veopoz here.
Veopoz was approved following data from an open-label Phase 2/3 study that evaluated the drug in 10 participants with CHAPLE disease. Serum albumin levels normalized in 100% of patients, with results being sustained through 72 weeks or more. A significant majority of patients no longer required additional albumin transfusions. Additionally, Veopoz reduced hospitalizations from 268 days in the 48 weeks prior to treatment to just 1 week during the treatment period itself.
While relatively safe and well-tolerated, some adverse effects did occur. These included hives, upper respiratory tract infections, alopecia, and bone fracturing. People taking Veopoz should also be aware of an increased risk of meningococcal infections. If someone is receiving Veopoz, they should ensure that their vaccinations are up to date.
