Clinical Trials

Studying ENPP1 Deficiency and ABCC6 Deficiency

We are enrolling patients with ENPP1 Deficiency or ABCC6 Deficiency (PXE) in the first clinical trials for a potential new treatment. With your participation, we can better understand this disease and help inform possible future treatment options.

ENPP1 Deficiency Trial in Infants: The ENERGY-1 Study

Study Overview

Study INZ701-104 (the ENERGY-1 study) is a Phase 1b, open-label study to assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of INZ-701 in infant subjects with ENPP1 Deficiency.

The study will consist of up to a 60-day Screening Period, a 52-week Treatment Period during which subjects will receive INZ-701, an Extension Period during which subjects may continue to receive INZ-701, and an End of Treatment (EOT) visit 30 days after the last dose of INZ-701. Upon treatment discontinuation, they will continue to be followed for their ongoing disposition for survival outcome at least quarterly, if feasible, through the end of the study.

Eligibility Criteria

Ages Eligible for Study: Birth to 1 Year (Child)
Sexes Eligible for Study: All

Inclusion Criteria:

  • Caregiver(s) must provide written or electronic consent after the nature of the study has been explained, and prior to any research-related procedures, per International Conference on Harmonisation (ICH) Good Clinical Practice (GCP).
  • Subject must have a post-natal confirmed 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 equivalent.
  • Subject must be male or female ages birth to <1 year of age at Baseline
  • Subject must weigh ≥ 0.5 kg at the time of the first dose of INZ-701
  • In the opinion of the Investigator, the subject must be able to complete all aspects of the study
  • Subject's caregiver(s) must agree to provide access to their child's relevant medical records

Exclusion Criteria:

  • In the opinion of the Investigator, presence of any clinically significant disease or laboratory abnormality (outside of those considered associated with the diagnosis of ENPP1 Deficiency) that precludes study participation or may confound interpretation of study results, including known uncontrolled thyroid disease or unrelated connective tissue, bone, mineral, or muscle disease
  • Care has been withdrawn or subject is receiving end of life care or hospice only
  • Known malignancy
  • Known intolerance to INZ-701 or any of its excipients
  • Concurrent participation in another non-Inozyme interventional study and/or receipt of any other investigational new drug within 5 half-lives of the last dose of the other investigational product or from 4 weeks prior to the first dose of INZ-701, whichever is longer, or use of an investigational device, through completion of participation in the study

Find a Study Site


The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Contact: Maximilian Krumpholz    267-432-0511  
Contact: Rachel Walega   267-586-5969  

Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Contact: Alayna Dutcher   617-355-0741  
Contact: Andrea Hale, RN, MHP    617-919-2867

Nationwide Children's Hospital
Columbus, Ohio, United States, 43205
Contact: Bimal Chaudhari, MD 614-722-3535
Contact: Marina Artemova, PhD 614-722-2655

Rady Children’s Hospital
San Diego, California, United States, 92123
Contact: Nathaly Sweeney, MD 858-966-5818
Contact: Sarah Lazar, MPH (858)576-1700 x223209