Methods of diagnosing and treating CD55 deficiency, hyperactivation of complement, angiopathic thrombosis and protein losing enteropathy (CHAPLE), a newly identified orphan disease

US12168802B2 · kind B2 · utility

Assignee

• The United States of America, as represented by the Secretary, Department of Health and Human Services · US

Inventors

• Michael J. Lenardo · Potomac, US
• Helen Su · Bethesda, US
• Ahmet Oguzhan Ozen · İstanbul, TR
• William A. COMRIE · Silver Spring, US
• Kaan Boztug · Wien, AT
• Rico Chandra Ardy · Wien, AT

Key dates

• Filing date: Jan 13, 2023
• Grant date: Dec 17, 2024
• Expiry date: Jan 13, 2043

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q2600/156
• WIPO field: Pharmaceuticals
• WIPO sector: Chemistry

Abstract

Disclosed herein are methods of diagnosing, and treating and/or preventing CD55-deficiency, hyperactivation of complement, angiopathic thrombosis and protein-losing enteropathy (CHAPLE). The method of diagnosing includes: providing a sample from a patient; performing an assay detecting at least one of at least one mutation in a DNA sequence of a CD55 gene, at least one mutation in a RNA sequence of a CD55 transcript, at least one mutation in a DNA sequence of a CD55 complementary-DNA (cDNA), CD55 protein, CD55 protein binding, complement deposition or combination thereof, and diagnosing the patient with CHAPLE. The method of treating and/or preventing at least one symptom of CHAPLE includes: administering an effective amount of a composition comprising at least one complement inhibitor to a subject in need thereof, wherein the composition is effective in treating or preventing at least on symptom of CHAPLE. The disclosure further relates to compositions effective at treating and/or preventing CHAPLE.