ENPP1 Deficiency leads to a low amount of pyrophosphate (PPiA substance made by the body to control mineral buildup in soft tissues)2
This causes a disease that could affect the entire body3
The clinical signs of ENPP1 deficiency may first appear from the
fetal stage through adulthood, and include3:
Neointimal proliferation: thickening of the arterial wall leading to stiffness of the artery
Ectopic mineralization: calcification of the arteries, organs, and joints
Pathological skeletal mineralization: under-mineralization of bones
People with ENPP1 Deficiency have a high risk of death early in life. Those who survive face many health issues.3,6 If you think that you may have ENPP1 Deficiency but your diagnosis has not been confirmed, consider getting a no‑charge genetic test to verify.
The ENPP1 Prospective Observational Study is designed to look at how ENPP1 Deficiency presents and progresses from birth through adulthood. The study will include people across all age groups.
Researchers will follow participants over time to:
Participation in this study could help scientists better understand the disease and inform possible future treatment options.
The clinical trial for ENPP1 Deficiency will determine if a new medication, INZ-701, is suitable to treat those affected with the disease. Participants will be split into 3 groups. Each group will receive a different dose of INZ-701. Every 4 weeks, the dose given will increase if it is deemed safe to do so. INZ-701 is a subcutaneous injection (under the skin).
Researchers will monitor participants on increasing doses of INZ-701 to:
For the extension period of the study, researchers will monitor participants on increasing doses of INZ-701 to evaluate skeletal, vascular, and physical function as well as outcomes reported by participants.
Subject participation consists of a screening period, a 32-day dose-evaluation period, and a 48-week extension period following completion of the dose-evaluation period.
If you have a confirmed ENPP1 diagnosis and meet the criteria described, please see additional information about study enrollment. Otherwise, keep reading to see how you can get tested for ENPP1 Deficiency.
Inozyme Clinical Trial Information
United States, New Jersey
Eatontown, New Jersey, United States, 07724
Contact: Imani Beard
Contact: Ziomara Spoelstra
London, United Kingdom
Contact: Keith Berelowitz
ABCC6 Deficiency leads to a low amount of pyrophosphate (PPiA substance made by the body to control mineral buildup in soft tissues)8
This causes a disease that could affect the entire body7
The clinical sign of ABCC6 Deficiency is7:
Ectopic mineralization: calcification of the elastic fibers affecting the skin, eyes, and blood vessels
Individuals who meet the eligibility criteria for the testing program can receive a no-cost, third-party genetic test to determine if they have the condition or are a carrier for ENPP1 Deficiency. Those with confirmed ENPP1 status may be eligible to participate in studies to help researchers better understand and treat the condition, including the ENPP1 Deficiency Prospective Observational Study previously mentioned.
Your HCP will order your test by following the instructions.
For more information, including FAQs: