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.
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
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. 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.
Participants must:
People being treated with statins or proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors must:
Women of child-bearing potential must:
Women of child-bearing potential and partners of fertile males who are of child-bearing potential must agree to:
Males who are sexually active must agree to:
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.
Contacts
Inozyme Clinical Trial Information
1-857-330-4340
clinicaltrials@inozyme.com
Locations
United States, New Jersey
Clinilabs Recruiting
Eatontown, New Jersey, United States, 07724
Contact: Imani Beard
1-212-994-4567
ARHR2-PXEstudies@clinilabs.com
United States, Minnesota
Mayo Clinic
Rochester, Minnesota, 55905
Contact: Gang Lui
1-507-255-8112
Liu.Gang@mayo.edu
London, United Kingdom
Richmond Pharmacology
Contact: Keith Berelowitz
k.berelowitz@richmondpharmacology.com
The clinical trial for ABCC6 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. INZ-701 is a subcutaneous injection
(under the skin).
Researchers will monitor participants on
increasing doses of INZ-701 to:
· Understand the safety of the medication
· Study how the medication is processed throughout the body
· Study changes in PPi and other markers
For the extension period of the study,
researchers will monitor participants on increasing doses of INZ-701 to
evaluate heart,
vascular, eye, skeletal, and physical function as well as patient reported
outcomes.
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.
Participants must:
· Provide written or electronic consent after the nature of the study has been explained, and prior to any research-related procedures
· Be diagnosed with ABCC6 Deficiency supported by prior genetic identification of biallelic ABCC6 mutations
· Be male or female, 18 to < 70 years old at screening
· Have a PPi level at screening that meets the requirement
· Be willing and able to complete all aspects of the study in the opinion of the researcher
· Agree to provide access to relevant medical records
People being treated with statins or proprotein convertase
subtilisin/kexin type 9 (PCSK9) inhibitors must:
· Be on stable doses for 6 months prior to enrollment through end of study unless previously cleared
Women of child-bearing potential must:
· Have a negative serum pregnancy test at screening
Women of child-bearing potential and partners of fertile males who are
of child-bearing potential must agree to:
· Use 1 highly effective form of contraception and a barrier method from at least 1 month before the first dose through 30 days after last dose of treatment
· Not donate ova from the period following the first dose through 30 days after last dose of treatment
Males who are sexually active must agree to:
· Use condoms from the period following first dose through 30 days after the last dose of treatment
· Not donate sperm from the period following the first dose through 30 days after last dose of treatment
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.
Contacts
Inozyme Clinical Trial Information
1-857-330-4340
clinicaltrials@inozyme.com
Locations
United States, New Jersey
Clinilabs Recruiting
Eatontown, New Jersey, United States, 07724
Contact: Imani Beard
1-212-994-4567
ARHR2-PXEstudies@clinilabs.com
United States, New York
Mount Sinai
New York, New York, 10029
1-212-241-3288
Elizabeth.andrews@mssm.edu
Shelley.uppal@mountsinai.org
Margaret.snyder@mssm.edu
London, United Kingdom
Richmond Pharmacology
Contact: Keith Berelowitz
k.berelowitz@richmondpharmacology.com
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.
©2021 Inozyme Pharma. All Rights Reserved.
Inozyme Pharma is a rare disease biopharmaceutical company developing novel therapeutics for the treatment of diseases of abnormal mineralization impacting the vasculature, soft tissue, and skeleton that can be life-threatening and debilitating.