Comrie, William (NIAID)
Ozen, Ahmet (NIAID)
Su, Helen (NIAID)
Ardy, Rico (Ludwig Boltzmann Institute for Rare and Undiseases)
Boztug, Kaan (Ludwig Boltzmann Institute for Rare and Undiseases)
This technology is directed towards a potential treatment for a new disease, CHAPLE (Complement Hyperactivation, Angiopathic thrombosis, and Protein-Losing Enteropathy), identified by NIAID researchers. CHAPLE is associated with GI symptoms and vascular thrombosis and is caused by loss-of-function variants in the gene encoding the complement regulatory protein CD55. The disease is caused by enhanced activation of the complement pathway and complement-mediated induction of intestinal lymphangiectasia and protein-losing enteropathy. There is no current therapy for the newly described heritable genetic disorder and the symptoms are poorly controlled. CHAPLE is similar to other complement activating diseases that can be fatal, particularly for patients who develop severe thrombosis. Recent off-label use of a complement inhibiting drug, eculizumab (CD55 inhibitor) was shown to provide a dramatic benefit in patients with CHAPLE disease with an immediate correction of gastrointestinal protein loss. Thus, identification of CD55 deficiency in CHAPLE patients, and the possibility to use complement inhibitory drugs provide opportunities for treatment.
This technology is available for licensing for commercial development in accordance with 35 U.S.C. § 209 and 37 CFR Part 404, as well as for further development and evaluation under a research collaboration.
- There is no therapy currently approved for CHAPLE disease, and patients face a debilitating and often time fatal course of the disease.
- Anti-complement drugs (including eculizumab) has the potential to treat CHAPLE disease.