Current Environment:


The primary purpose of Study INZ701-104 (the ENERGY study) is to assess the safety and tolerability of INZ-701 in infants with ENPP1 Deficiency.


Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy

Recruitment Status


Detailed Description

INZ-701 is an ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) enzyme replacement therapy in development for the treatment of the ultra rare genetic disorder, ENPP1 Deficiency. Study INZ701-104 (the ENERGY study) is a Phase 1b, open-label study to assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of INZ-701 in infant study participants with ENPP1 Deficiency. The study will consist of up to a 60-day Screening Period, a 52-week Treatment Period during which study participants will receive INZ-701, an Extension Period during which study participants 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, study participants may continue to be followed for their ongoing disposition for survival outcome at least quarterly, if feasible through the end of the study. If the study site is not able to complete the survival outcome follow-up for up to 26 weeks post-treatment discontinuation, then the study participant can be considered "lost to follow up.

Eligibility Criteria

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).
Study participant must have a confirmed post-natal 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 local equivalent.
Study participant must be male or female from birth (newborn) to <1 year of age at Baseline (Day 1).
Study participant 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
Study participant'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


Intervention Type

Intervention Name




Phase 1



Min Age


Max Age

1 Year

Download Date

April 22, 2024

Principal Investigator


Primary Contact Information

Alayna Dutcher
Andrea Hale, RN, MHP

This field has been modified from to show a contact specific to Boston Children's.

For more information on this trial, visit


For more information and to contact the study team:

The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency NCT05734196 Alayna Dutcher Andrea Hale, RN, MHP