Clinical Trials

Inclusion Criteria:

• Must provide written or electronic consent after the nature of the registry has been explained, and prior to any research-related procedures, per International Council for Harmonisation (ICH) Good Clinical Practice (GCP)
• Agree to provide access to relevant medical records
• One of the following genetic or clinical criteria
  • A confirmed prenatal or postnatal molecular genetic diagnosis of ENPP1 Deficiency with biallelic mutations (ie, homozygous or compound heterozygous) performed by a College of American Pathologists/Clinical Laboratory Improvement Amendments (CAP/CLIA) certified laboratory or regional equivalent OR
  • Monoallelic ENPP1 mutation confirmed by a certified CAP/CLIA laboratory or regional equivalent and any of the following clinical symptoms:
    •  ≥ 1 traumatic vertebral fracture
    •  ≥ 2 fractures as an adult (eg, long-bones, digits, vertebrae)
    • Low bone mineral density (dual-energy X-ray absorptiometry [DXA] Z-score <1.5) and <55 years of age
    • Bone or joint pain interfering with movement or daily activities
    • History of myocardial infarction (MI), unstable angina, transient ischemic attack (TIA) or low cardiac output before the age of 40 yrs. vi. History of rickets or bone deformity
    • Diagnosis of ossification of the posterior longitudinal ligament (OPLL)
    • Other clinical symptoms, with approval by Inozyme OR
  • A confirmed prenatal or postnatal molecular genetic diagnosis of ABCC6 Deficiency with biallelic mutations confirmed by a certified CAP/CLIA laboratory or regional equivalent, and <18 years of age

Exclusion Criteria: 

• Participant or their legally designated representative does not have the cognitive capacity to provide informed consent
• Patients who are currently participating in an INZ-701 interventional clinical study, with the exception of expanded access programs and long-term safety follow-up studies
  • Participants in interventional studies may be approached for inclusion in the registry once their involvement in the treatment period of the clinical study has been completed

Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

Eligibility last updated 4/11/2024. Questions regarding updates should be directed to the study team contact.