Ectonucleotide Pyrophosphatase/phosphodiesterase1 DeficiencyPhase 1ENERGYNCT05734196
The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency
A Phase 1 study testing INZ-701 in people with Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency and Autosomal Recessive Hypophosphatemic Rickets, run by Inozyme Pharma at 5 sites in 3 countries.
Trial summary
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. Read more about this study
- Who is it for?
- Ages Up to 1 year
- Conditions the study is for
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy
- What is being tested?
- INZ-701
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 9 participants
- Where
- 5 sitesin 3 countries
- Study dates
- 25 Jun 2023to 29 Sep 2026
- Phase
- Phase 1
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 1 year
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
5 sites in 3 countries.
5 sites in 3 countries
United States3 sites
Nationwide Children's Hospital
Columbus, Ohio, 43205
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Rady Children's Hospital
San Diego, California, 92123
United Kingdom1 site
Royal Manchester Children's Hospital
Manchester, M13 9WL
About this study
Official 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
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.
Read the 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 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.
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy, ATP-Binding Cassette Subfamily C Member 6 Deficiency, Pseudoxanthoma Elasticum
- Being tested
- INZ-701
- Keywords
- ectonucleotide pyrophosphatase/phosphodiesterase1 deficiency, hypopyrophosphatemia, ENPP1, Generalized Arterial Calcification of Infancy, GACI, Autosomal Recessive Hypophosphatemic Rickets Type 2, ARHR2, ATP-Binding Cassette Subfamily C Member 6 Deficiency, ABCC6, Pseudoxanthoma elasticum, PXE
- Medical subject headings
- Hypophosphatemic Rickets, Autosomal Recessive, 1, Arterial calcification of infancy, Pseudoxanthoma Elasticum
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
INZ-701Drug
Also called (rhENPP1-Fc).
Recombinant fusion protein that contains the extracellular domains of human ENPP1 coupled with an Fc fragment from an immunoglobulin gamma-1 (IgG1) antibody.
| Study group | Role | What they receive |
|---|---|---|
| INZ-701 | Experimental | The first 2 study participants will receive 1 dose of 0.2 mg/kg on Day 1 and start at Dose Level A (0.2 mg/kg twice weekly) on Day 8.
The Data Review Committee (DRC) comprised of representatives of the Sponsor, the study Investigators, and a physician who is a subject matter expert not affiliated with the study or Sponsor, will review the safety data of the first study participant through Day 8. Contingent upon this review, the Sponsor will decide if additional study participants can begin receiving INZ-701.
After the second study participant completes Day 32, the DRC will perform a cumulative review of safety and PK/PD data and will make dosing recommendations, for example, modifying the dose of the ongoing study participants and/or changing the starting dose for future participants.
Dose Level A: 0.2 mg/kg twice weekly
Dose Level B: 0.6 mg/kg twice weekly
Dose Level C: 0.2 mg/kg once weekly
Dose Level D: 0.6 mg/kg once weekly
Dose Level E: 1.8 mg/kg once weekly Receives: Drug: INZ-701 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Treatment Emergent Adverse Events (TEAEs)
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.
Measured: 52 weeks (Treatment Period)
Incidence of Anti-Drug Antibodies (ADA)
For each participant, the presence of ADAs will be assessed and, if present, further evaluation will determine specificity and subtypes.
Measured: 52 weeks (Treatment Period)
Left Ventricular Ejection Fraction
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.
Measured: 52 weeks (Treatment Period)
Secondary outcomes (4)
Change from Baseline in Plasma Inorganic Pyrophosphate (PPi) Levels
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.
Measured: 52 weeks (Treatment Period)
Area under the Plasma Concentration versus Time Curve (AUC) of INZ-701
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.
Measured: 52 weeks (Treatment Period)
Maximum Plasma Concentration (Cmax) of INZ-701
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.
Measured: 52 weeks (Treatment Period)
ENPP1 Activity
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.
Measured: 52 weeks (Treatment Period)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Feb 2023
- Study start25 Jun 2023
- Primary completion29 Sep 2026
- Study completion29 Sep 2026
Why it stopped: The study was terminated by the sponsor prior to planned completion based on a review of the data across indications and overall program considerations. Study termination was not related to participant safety.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Ectonucleotide Pyrophosphatase/phosphodiesterase1 DeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Study INZ701-104 is a Phase 1b, open-label study to assess the safety, tolerability, pharmacokinetics, and pharmacodynamics of INZ-701 in infant study participants with ENPP1 Deficiency or with ABCC6 Deficiency.
- Masking
- None (open label)
- Enrolment
- 9 participants (actual)
Sponsor and investigators
- Lead sponsor
- Inozyme Pharma
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- BioMarin Pharmaceutical
- Responsible party
- Sponsor
- Investigators
- Medical Director, MD, MD, Study director, BioMarin Pharmaceutical
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05734196
- Sponsor's protocol ID
- INZ701-104
- Acronym
- ENERGY
- Status last verified
- Oct 2026
- First submitted
- 26 Jan 2023
- Last updated
- 15 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official 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
- ClinicalTrials.gov ID
- NCT05734196
- Acronym / sponsor ID
- ENERGY / INZ701-104
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy, ATP-Binding Cassette Subfamily C Member 6 Deficiency, Pseudoxanthoma Elasticum
- Keywords
- ectonucleotide pyrophosphatase/phosphodiesterase1 deficiency, hypopyrophosphatemia, ENPP1, Generalized Arterial Calcification of Infancy, GACI, Autosomal Recessive Hypophosphatemic Rickets Type 2, ARHR2, ATP-Binding Cassette Subfamily C Member 6 Deficiency
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: The study was terminated by the sponsor prior to planned completion based on a review of the data across indications and overall program considerations. Study termination was not related to participant safety.
- Enrolment
- 9 participants (actual)
- Lead sponsor
- Inozyme PharmaIndustry (pharma, biotech, devices)
- Collaborators
- BioMarin Pharmaceutical
- Study start
- 25 Jun 2023 (actual)
- Primary completion
- 29 Sep 2026 (actual)
- Study completion
- 29 Sep 2026 (actual)
- First posted
- 17 Feb 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Study INZ701-104 is a Phase 1b, open-label study to assess the safety, tolerability, pharmacokinetics, and pharmacodynamics of INZ-701 in infant study participants with ENPP1 Deficiency or with ABCC6 Deficiency.
| Arm | Type | Receives |
|---|---|---|
| INZ-701 | Experimental | Drug: INZ-701The first 2 study participants will receive 1 dose of 0.2 mg/kg on Day 1 and start at Dose Level A (0.2 mg/kg twice weekly) on Day 8. The Data Review Committee (DRC) comprised of representatives of the Sponsor, the study Investigators, and a physician who is a subject matter expert not affiliated with the study or Sponsor, will review the safety data of the first study participant through Day 8. Contingent upon this review, the Sponsor will decide if additional study participants can begin receiving INZ-701. After the second study participant completes Day 32, the DRC will perform a cumulative review of safety and PK/PD data and will make dosing recommendations, for example, modifying the dose of the ongoing study participants and/or changing the starting dose for future participants. Dose Level A: 0.2 mg/kg twice weekly Dose Level B: 0.6 mg/kg twice weekly Dose Level C: 0.2 mg/kg once weekly Dose Level D: 0.6 mg/kg once weekly Dose Level E: 1.8 mg/kg once weekly |
Who may qualify
- Ages
- Up to 1 year
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| INZ-701Also: (rhENPP1-Fc).Recombinant fusion protein that contains the extracellular domains of human ENPP1 coupled with an Fc fragment from an immunoglobulin gamma-1 (IgG1) antibody. | Drug | INZ-701 |
Primary outcome
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.
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.
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.
4 secondary outcomes
Change from Baseline in Plasma Inorganic Pyrophosphate (PPi) Levels
Time frame: 52 weeks (Treatment Period)
Area under the Plasma Concentration versus Time Curve (AUC) of INZ-701
Time frame: 52 weeks (Treatment Period)
Maximum Plasma Concentration (Cmax) of INZ-701
Time frame: 52 weeks (Treatment Period)
ENPP1 Activity
Time frame: 52 weeks (Treatment Period)
Results and safety
The study was stopped early (reason given: The study was terminated by the sponsor prior to planned completion based on a review of the data across indications and overall program considerations. Study termination was not related to participant safety.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Oct 2026.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Medical Director, MD, MD study director
BioMarin Pharmaceutical
5 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing INZ-701 in people with Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency and Autosomal Recessive Hypophosphatemic Rickets, run by Inozyme Pharma at 5 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 15 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States, Spain, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study was stopped early (reason given: The study was terminated by the sponsor prior to planned completion based on a review of the data across indications and overall program considerations. Study termination was not related to participant safety.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Treatment Emergent Adverse Events (TEAEs) (time frame: 52 weeks (Treatment Period)). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Oct 2026.