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 (ENERGY) is a Phase 1b, open-label study to assess the safety, tolerability, PK, and PD of INZ-701 in infant study participants with ENPP1 Deficiency or ABCC6 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 participants may continue to receive INZ-701 until it is commercially available in the country where the participant resides, or until an alternative study of INZ-701 is available, and an End of Treatment (EOT) visit 30 days after the last dose of INZ-701. Upon treatment discontinuation, participants will continue to be followed for their ongoing disposition for survival outcome at least quarterly 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 Council for Harmonisation (ICH) Good Clinical Practice (GCP)
  • Study participant must have a confirmed post-natal molecular genetic diagnosis of ENPP1 Deficiency or ABCC6 Deficiency with biallelic mutations (ie, homozygous or compound heterozygous) performed by a College of American Pathologists/Clinical Laboratory Improvement Amendments (CAP/CLIA) certified laboratory
  • Study participants must have clinical manifestations of GACI or GACI-2, which may include, but are not limited to, pathologic ectopic calcification, heart failure, respiratory distress, edema, cyanosis, hypertension, and cardiomegaly
  • Study participant must be male or female from birth 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 this study
  • In the opinion of the Investigator, the study participant 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 or ABCC6 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 study participant 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
  • Receipt of any non-Inozyme investigational new drug within 5 half-lives of the last dose of the other investigational product or within 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


Royal Manchester University Hospital
Manchester, UK, M13 9WL
Principal Investigator: Amish Chinoy  
Contact: Charlotte Boe  
Contact: Jennifer Stockdale  

Nationwide Children's Hospital
‍Columbus, Ohio, United States, 43205
Principal Investigator: Kristen Truxal
Contact: Patsy Guittar
Contact: Julie Holbrook
Contact: Marina Artemova, PhD  614-722-2655

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

University of Utah
Salt Lake City, Utah, United States, 84018
Principal Investigator: Lorenzo Botto  
Contact: Carrie Bailey    801-587-3605

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

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

Planned Future Sites:
  • Hospital San joan de Deu