Not recruitingRare disease

Study on the Safety and Effects of INZ-701 for Infants with ENPP1 or ABCC6 Deficiency

Verified siteInvestigational

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What is this trial about?

A plain-language summary of the goals, design and what participants do

The ENERGY Study is focused on understanding the safety and effects of a treatment called INZ-701 in infants who have a rare condition known as ENPP1 Deficiency or ABCC6 Deficiency. These conditions can lead to serious health issues, including problems with calcium buildup in the body, which can affect the heart and other organs. The treatment being studied, INZ-701, is a special type of protein designed to help manage these conditions.

The purpose of the study is to evaluate how safe and tolerable INZ-701 is for infants with these deficiencies. The study will involve giving the treatment as an injection under the skin. Participants will be closely monitored to see how their bodies respond to the treatment, including any side effects they might experience. The study will also look at how the treatment moves through the body and how it affects certain biological markers related to the conditions.

Throughout the study, various health checks will be conducted, such as monitoring vital signs, weight, and conducting laboratory tests. These tests will help researchers understand the impact of INZ-701 on the participants' health. The study aims to gather important information that could lead to better treatments for infants with ENPP1 Deficiency or ABCC6 Deficiency in the future.

The research process

The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Joining the study
The study participant must have a confirmed diagnosis of ENPP1 Deficiency or ABCC6 Deficiency with specific genetic mutations.
The participant must be under 1 year of age and weigh at least 0.5 kg at the start of the study.
Caregivers must provide consent and agree to provide access to the child's medical records.
Step 2
Baseline assessment
Initial assessments include checking vital signs, weight, and conducting laboratory tests such as blood and urine tests if feasible.
An echocardiogram and electrocardiogram will be performed to assess heart function.
Step 3
Medication administration
The medication INZ-701 is administered as a subcutaneous injection.
The form of the medication is a lyophilized powder prepared for injection.
Step 4
Monitoring and follow-up
Regular monitoring of adverse events, vital signs, and laboratory tests will occur throughout the study.
The study will measure the concentration of INZ-701 in the blood and assess changes in specific biochemical markers over time.
Step 5
End of study
The study is estimated to conclude by October 30, 2026.
Final assessments will be conducted to evaluate the overall safety and effectiveness of the treatment.

Who can join the trial?

7 criteria

The caregiver(s) must give written or electronic permission for the child to join the study after understanding what the study involves.
The child must have a confirmed genetic diagnosis of **ENPP1 Deficiency** or **ABCC6 Deficiency**. This means they have specific changes in their genes that have been identified through a reliable test.
The child must be a boy or girl from birth up to less than 1 year old at the start of the study.
The child must weigh at least 0.5 kg (about 1.1 pounds) when they receive the first dose of the study medication, **INZ-701**.
The study doctor must believe that the child can complete all parts of the study.
The caregiver(s) must agree to allow access to the child's important medical records.
The child must show signs of **GACI** or **GACI-2**, which are conditions that can include unusual calcium deposits in the body, heart problems, breathing difficulties, swelling, bluish skin, high blood pressure, and an enlarged heart.

Who cannot join the trial?

10 criteria

Patients with other serious health conditions that might interfere with the study.
Patients who are currently participating in another clinical trial.
Patients who have had a recent major surgery.
Patients with a history of allergic reactions to similar medications.
Patients who are pregnant or breastfeeding.
Patients who are unable to follow the study procedures.
Patients with a history of substance abuse.
Patients with unstable mental health conditions.
Patients who have received certain medications recently that might affect the study.
Patients with severe liver or kidney problems.

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Verified sites

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Verified
Hospital Sant Joan De Deu Barcelona
Esplugues De Llobregat, Spain

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Investigated drugs

INZ-701 is a medication being studied for its safety and how well it is tolerated in infants. It is being tested in infants who have a deficiency in either ENPP1 or ABCC6, which are specific proteins in the body. The study aims to understand how the body processes this medication and its effects on these deficiencies.

Recombinant Human Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Fused To The Fc Fragment Of Igg1

What is already known about the treatment

INZ-701 – INZ-701 is administered through an injection, designed to treat conditions related to ENPP1 or ABCC6 deficiencies. Currently, it is under investigation in clinical trials, with a focus on evaluating its safety and tolerability in infants. The main therapeutic indication for INZ-701 is to address deficiencies in ectonucleotide pyrophosphatase/phosphodiesterase 1 or ATP-binding cassette sub-family C member 6, which can lead to various health issues. At the molecular level, INZ-701 works by targeting specific enzymes or proteins involved in these deficiencies, potentially correcting or mitigating the underlying problems. It is classified pharmacologically as an enzyme replacement therapy, aiming to restore normal function in affected individuals.

Investigated diseases

ENPP1 Deficiency
ENPP1 Deficiency is a rare genetic disorder that affects the body's ability to regulate calcium and phosphate levels. This condition can lead to abnormal calcification in various tissues, including blood vessels and joints. Over time, individuals may experience joint pain, stiffness, and potential cardiovascular complications due to the buildup of calcium deposits. The progression of symptoms can vary widely among affected individuals, with some experiencing more severe manifestations than others. The condition is typically inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations.
ABCC6 Deficiency
ABCC6 Deficiency is a genetic disorder that primarily affects the skin, eyes, and cardiovascular system. It is characterized by the progressive calcification of elastic fibers in connective tissues, leading to symptoms such as skin lesions, vision problems, and cardiovascular issues. The disease often begins in childhood or early adulthood, with skin changes being one of the first noticeable signs. Over time, the calcification can lead to more severe complications, particularly affecting the heart and blood vessels. The condition is inherited in an autosomal recessive manner, requiring mutations in both copies of the ABCC6 gene.