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NCT Number: NCT05734196

The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency

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 or with ABCC6 Deficiency.

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Key information

Conditions

Ectonucleotide Pyrophosphatase/Phosphodiesterase1 Deficiency ATP-Binding Cassette Subfamily C Member 6 Deficiency Arterial calcification of infancy Autosomal Recessive Hypophosphatemic Rickets Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Generalized Arterial Calcification of Infancy Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemostatic Disorders Hypophosphatemic Rickets, Autosomal Recessive, 1 Pseudoxanthoma Elasticum Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases Vascular Diseases

Age range

Up to 1 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 1

Primary location

Hospital Sant Joan de Déu, Barcelona, Spain

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About this study

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 or with ABCC6 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 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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Infant aged ≤ 1 year at the time of enrollment
  • Study participant must have a confirmed post-natal molecular genetic diagnosis of ENPP1 Deficiency or ABCC6 Deficiency
  • Study participants must have clinical manifestations of generalized arterial calcification of infancy (GACI) or GACI-2, which must include at least one of the following: ectopic calcification, heart failure, respiratory distress, edema, cyanosis, hypertension, and cardiomegaly.
  • Study participant must weigh ≥0.5 kg at the time of the first dose of INZ-701 in this study
  • Written informed consent provided by a parent or legal guardian

Exclusion criteria

  • In the opinion of the Investigator, presence of any clinically significant disease or laboratory abnormality that precludes study participation or may confound interpretation of study result
  • Receiving end of life or hospice care
  • Known malignancy
  • Concurrent participation in another non-Inozyme interventional study
  • Treatment with any non-Inozyme product or investigational device during study participation

Treatment and study plan

INZ-701

Drug

Recombinant fusion protein that contains the extracellular domains of human ENPP1 coupled with an Fc fragment from an immunoglobulin gamma-1 (IgG1) antibody.

Other names: (rhENPP1-Fc).

Primary outcomes

  1. Number of Treatment Emergent Adverse Events (TEAEs)

    Time frame: 52 weeks (Treatment Period)

    Treatment-emergent AEs are defined as any AE occurring from the first dose of INZ-701 through 30 days after the last dose of INZ-701.

  2. Incidence of Anti-Drug Antibodies (ADA)

    Time frame: 52 weeks (Treatment Period)

    For each participant, the presence of ADAs will be assessed and, if present, further evaluation will determine specificity and subtypes.

  3. Left Ventricular Ejection Fraction

    Time frame: 52 weeks (Treatment Period)

    For each participant, an echocardiogram will be collected, and used to assess heart function. (Including measurement of left ventricular ejection fraction), and to identify any other abnormalities, for example, calcification of heart valves.

Secondary outcomes

  1. Change from Baseline in Plasma Inorganic Pyrophosphate (PPi) Levels

    Time frame: 52 weeks (Treatment Period)

    For each participant, plasma PPi will be measured via a series of blood samples obtained throughout the study, comparing the participant's baseline value over time.

  2. Area under the Plasma Concentration versus Time Curve (AUC) of INZ-701

    Time frame: 52 weeks (Treatment Period)

    For each participant, variation of concentration of INZ-701 in the plasma will be measured via a series of blood samples obtained throughout the study, comparing the participant's baseline value over time.

  3. Maximum Plasma Concentration (Cmax) of INZ-701

    Time frame: 52 weeks (Treatment Period)

    For each participant, the maximum concentration of INZ-701 in the plasma will be measured via a series of blood samples obtained throughout the study, comparing the participant's baseline value over time.

  4. ENPP1 Activity

    Time frame: 52 weeks (Treatment Period)

    For each participant, the activity of INZ-701 in the serum will be measured via a series of blood samples obtained throughout the study, comparing the participant's baseline value over time.

Study contacts

Contact information is provided by the study sponsor or research team.

Medical Director, MD

CONTACT

[email protected]

+1 800-983-4587

Trial Specialist

CONTACT

[email protected]

+1 800-983-4587

Sponsors and collaborators

Lead sponsor

Inozyme Pharma

Industry

Collaborators

  • BioMarin Pharmaceutical

Registry information

Official study title

The ENERGY Study: An Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of INZ-701 in Infants With Ectonucleotide Pyrophosphatase/ Phosphodiesterase 1 (ENPP1) Deficiency or ATP-binding Cassette Sub-family C Member 6 (ABCC6) Deficiency

Acronym: ENERGY

Important dates

Study start
2023
Primary completion
2027
Study completion
2027
First posted
Feb 17, 2023
Registry last updated
Mar 24, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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