Not recruitingRare disease

Study on INZ-701 for Improving Survival in Infants with ENPP1 Deficiency

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What is this trial about?

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

The study focuses on a rare condition called Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) Deficiency, which affects infants. This condition can lead to serious health issues, including problems with the heart and the hardening of arteries. The treatment being tested is a medication known as INZ-701, which is a special type of protein designed to help manage this deficiency. The purpose of the study is to see if INZ-701 can increase the levels of a substance called inorganic pyrophosphate (PPi) in the body and improve the overall survival of infants with this condition.

During the study, infants will receive INZ-701 through a subcutaneous injection, which means it is given under the skin. The study will observe the infants over a period of time to see how their bodies respond to the treatment. Researchers will monitor changes in the infants' health, including heart function and growth, to determine the effectiveness and safety of the treatment. The study will also compare the results with those of infants who do not receive the treatment to understand its impact better.

The study aims to provide valuable information on whether INZ-701 can help prevent heart dysfunction and the calcification of arteries in infants with ENPP1 Deficiency. By increasing the levels of PPi, the treatment may offer a new way to manage this challenging condition and improve the quality of life for affected infants. The study will continue for a set period, allowing researchers to gather comprehensive data on the treatment's long-term effects.

The research process

The trial runs in 6 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Joining the study
Upon joining the study, the caregiver provides written or electronic consent after understanding the study details.
The infant must have a confirmed genetic diagnosis of ENPP1 Deficiency and meet specific health criteria.
Step 2
Initial assessment
An initial assessment is conducted to establish baseline health metrics, including plasma PPi concentration and other clinical evaluations.
Step 3
Treatment administration
The infant receives the study drug INZ-701 as a subcutaneous injection.
The medication is prepared from a lyophilized powder specifically for injection.
Step 4
Ongoing monitoring
Regular monitoring occurs to track changes in plasma PPi levels and overall health.
Health assessments include echocardiography to evaluate heart function and CT scans to check for vascular calcification.
Step 5
Evaluation of growth and development
The infant's growth is monitored through measurements of body length and weight.
Growth velocity and other developmental milestones are assessed throughout the study.
Step 6
Completion of study
The study is expected to continue until February 2028, with regular assessments and data collection.
The primary focus is on changes in plasma PPi concentration and overall survival.

Who can join the trial?

8 criteria

The caregiver(s) must give written or electronic consent after the study has been explained to them, before any research-related procedures begin.
The patient must have a confirmed genetic diagnosis of **ENPP1 Deficiency**. This means they have specific changes in their genes, known as **biallelic mutations** (either both copies of a gene are the same, called homozygous, or each copy is different, called compound heterozygous). This diagnosis should be done using approved tests.
There must be clinical evidence of **GACI** (Generalized Arterial Calcification of Infancy), which can include symptoms like unusual calcium deposits in the body, heart failure, breathing problems, swelling, bluish skin color, high blood pressure, enlarged heart, or other related signs.
The study is open to both males and females from birth up to less than 1 year old at the start of the study.
The patient's blood level of **PPi** (inorganic pyrophosphate) must be less than 1400 nM. This is checked at the study screening if the patient hasn't been part of a previous program, or at a documented baseline before starting treatment with the study drug INZ-701.
The patient must weigh at least 0.5 kg at the time of the first dose of INZ-701.
The patient must be able to complete all parts of the study, as judged by the study doctor.
The caregiver(s) must agree to allow access to their infant's relevant medical records.

Who cannot join the trial?

10 criteria

Patients with any other serious health condition that might interfere with the study.
Patients who are pregnant or breastfeeding.
Patients who have participated in another clinical trial recently.
Patients who have allergies to the study medication or its ingredients.
Patients who are unable to follow the study procedures or instructions.
Patients with a history of substance abuse or addiction.
Patients who have had a major surgery recently.
Patients with certain heart conditions that could be affected by the study medication.
Patients with severe liver or kidney disease.
Patients who are taking medications that might interact with the study drug.

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Verified sites

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Hopital Beaujon
Clichy, France
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Hospital Sant Joan De Deu Barcelona
Esplugues De Llobregat, Spain
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Karolinska University Hospital
Solna, Sweden

Trial locations

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Investigated drugs

INZ-701 is a medication being studied to see if it can help infants with a condition called ENPP1 Deficiency. This condition affects the levels of a substance in the body called inorganic pyrophosphate (PPi). The trial is looking at whether INZ-701 can increase the levels of PPi and improve the overall survival of the infants.

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

What is already known about the treatment

INZ-701 – This medication is administered through injection and is currently being studied in clinical trials for its effectiveness and safety in treating infants with ENPP1 deficiency. ENPP1 deficiency is a rare genetic disorder that affects bone and cardiovascular health. The main goal of INZ-701 is to increase levels of inorganic pyrophosphate (PPi), which may help improve survival rates. It works by targeting specific enzymes to regulate mineralization processes in the body. INZ-701 is classified as an enzyme replacement therapy, and its development is ongoing, with promising results in early studies.

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 is caused by mutations in the ENPP1 gene, leading to low levels of inorganic pyrophosphate (PPi), a molecule that helps prevent calcium deposits in the body. As a result, individuals with this deficiency may experience abnormal calcification in blood vessels and other tissues. Over time, this can lead to complications such as heart problems and issues with bone growth. The disease often manifests in infancy or early childhood, with symptoms varying in severity. It is a progressive condition, meaning symptoms can worsen over time.