Treatment of ENPP1 deficiency and ABCC6 deficiency in children
Administering an ENPP1 agent at 2.4 mg/kg restores ENPP1 activity and PPi levels, addressing the unmet need for therapies in ENPP1 and ABCC6 deficiencies by reducing calcification and improving symptoms.
WO2025042995A9 Publication Date: 2025-10-16INOZYME PHARMA INC
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Patent Information
- Application Number
- PCT/US2024/043242
- Authority / Receiving Office
- WO · WO
- Patent Type
- Applications
- Current Assignee / Owner
- Priority Date
- 2023-08-22
- Filing Date
- 2024-08-21
- Publication Date
- 2025-10-16
AI Technical Summary
Technical Problem
There are no targeted therapies for ENPP1 deficiency and ABCC6 deficiency, which result in severe and life-threatening conditions characterized by ectopic calcification, skeletal dysfunction, and debilitating symptoms, with high unmet medical needs.
Method used
Administration of an ENPP1 agent at a dose of about 2.4 mg per kilogram of the subject to restore physiological levels of ENPP1 activity and increase pyrophosphate (PPi) in plasma, thereby preventing or reducing vascular and tissue calcification.
Benefits of technology
The ENPP1 agent effectively maintains physiological levels of PPi, reducing vascular and tissue calcification, ameliorating symptoms, and improving quality of life for subjects with ENPP1 or ABCC6 deficiencies.
✦ Generated by Eureka AI based on patent content.
Abstract
The present disclosure provides, among other things, specific doses of an ENPP1 agent for in vivo treatment of an ENPP1 deficiency, such as for treatment of Generalized Arterial Calcification of Infancy (GACI), Hypopyrophosphatemia, Autosomal Recessive Hypophosphatemic Rickets 2 (ARHR2), and other diseases resulting from pathological calcification, ENPP1 deficiency, ABCC6 deficiency such as diseases or disorders involving ectopic calcification of soft tissue in a subject of age 1-12.
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