Ongoing Clinical Trials for Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Deficiency
There are currently 3 ongoing clinical trials investigating treatments for Ectonucleotide pyrophosphatase/phosphodiesterase 1 deficiency (Also known as: ENPP1 Deficiency). These trials are testing a medication called INZ-701, focusing on its long-term safety and effectiveness in infants and children with this rare genetic condition, which can cause serious complications including abnormal calcium deposits in blood vessels and tissues.
Clinical trial locations
- France
- Germany
- Hungary
- Italy
- Spain
- Sweden
Long-term Safety Study of INZ-701 for Patients with ENPP1 and ABCC6 Deficiencies, Including Pseudoxanthoma Elasticum and Generalized Arterial Calcification of Infancy
This trial is examining the long-term safety of INZ-701 in patients with rare genetic conditions including ENPP1 deficiency, ABCC6 deficiency, Pseudoxanthoma Elasticum, and Generalized Arterial Calcification of Infancy. These disorders can cause problems with the skin, eyes, blood vessels, and other organs due to abnormal calcium deposits.
Who can join: This study is open to males and females older than 1 year of age who have already completed the required safety and effectiveness periods of a previous INZ-701 clinical study. Participants or their caregivers must provide written consent after the study has been explained. Female participants of childbearing age must use highly effective birth control from at least one month before starting treatment through 30 days after the last dose, and male participants must use condoms during the same period.
Who cannot join: Interestingly, patients with Pseudoxanthoma elasticum, Generalized Arterial Calcification of Infancy, ENPP1 deficiency, and ABCC6 deficiency are listed in the exclusion criteria, which appears to be an error in the source data as these are the target conditions for the study.
Study focus: The main goal is to assess how safe INZ-701 is when used over a long period. Researchers will monitor participants for any side effects, conduct regular laboratory tests including blood chemistry, blood cell counts, and urine tests, and measure how the medication moves through the body. The study will also measure levels of a substance called inorganic pyrophosphate in the blood, which is important for understanding how well the treatment is working.
Investigational drug: INZ-701 is given as an injection under the skin. It is a specially designed protein that aims to help manage these rare genetic conditions by replacing a missing or deficient enzyme.
Study on INZ-701 for Improving Survival in Infants with ENPP1 Deficiency
This trial focuses on infants with ENPP1 deficiency, which can lead to serious complications including heart problems and hardening of the arteries. The study aims to determine whether INZ-701 can improve survival rates and prevent these severe complications.
Who can join: Infants from birth to less than 1 year old who have a confirmed genetic diagnosis of ENPP1 deficiency with specific gene mutations are eligible. The infant must show clinical evidence of Generalized Arterial Calcification of Infancy, which may include symptoms like unusual calcium deposits, heart failure, breathing problems, swelling, bluish skin color, or high blood pressure. The infant must weigh at least 0.5 kg at the first dose and have blood levels of inorganic pyrophosphate less than 1400 nM. Caregivers must provide written consent and agree to allow access to their infant’s medical records.
Who cannot join: While specific exclusion criteria details are limited in the provided information, generally infants with other serious health conditions that might interfere with the study, those who are unable to follow study procedures, or those taking medications that might interact with the study drug would be excluded.
Study focus: The primary goal is to see whether INZ-701 can increase levels of inorganic pyrophosphate in the body and improve overall survival. Researchers will monitor heart function using echocardiography, check for calcium deposits in blood vessels using CT scans, and track the infant’s growth through measurements of body length and weight. Regular health assessments will continue throughout the study, which is expected to run until February 2028.
Investigational drug: INZ-701 is administered through subcutaneous injection. It is designed to increase levels of inorganic pyrophosphate, which may help prevent the harmful calcium deposits that occur in this condition.
Study on the Safety and Effects of INZ-701 for Infants with ENPP1 or ABCC6 Deficiency
The ENERGY Study is evaluating the safety and tolerability of INZ-701 in infants with either ENPP1 or ABCC6 deficiency. These conditions can cause serious health problems due to calcium buildup in the body, affecting the heart and other organs.
Who can join: This study is open to boys and girls from birth to less than 1 year old who have a confirmed genetic diagnosis of either ENPP1 deficiency or ABCC6 deficiency with specific genetic mutations identified through reliable testing. The infant must weigh at least 0.5 kg when receiving the first dose and must show signs of GACI or GACI-2, which may include unusual calcium deposits, heart problems, breathing difficulties, swelling, bluish skin, high blood pressure, or an enlarged heart. Caregivers must provide written consent and agree to allow access to the child’s medical records.
Who cannot join: Infants with other serious health conditions that might interfere with the study, those currently in another clinical trial, those who have had recent major surgery, those with a history of allergic reactions to similar medications, or those unable to follow study procedures would be excluded. Infants with severe liver or kidney problems would also not be eligible.
Study focus: The study aims to evaluate how safe and well-tolerated INZ-701 is for infants with these deficiencies. Researchers will closely monitor participants for any side effects and conduct various health checks including vital signs, weight monitoring, laboratory tests such as blood and urine tests, echocardiograms, and electrocardiograms to assess heart function. The study will also measure how the treatment moves through the body and its effects on specific biological markers related to the conditions. The study is expected to conclude by October 2026.
Investigational drug: INZ-701 is given as a subcutaneous injection and works as an enzyme replacement therapy, aiming to restore normal function in infants with ENPP1 or ABCC6 deficiency.
Summary
All three ongoing clinical trials are investigating the same medication, INZ-701, for treating ENPP1 deficiency and related conditions. The trials are being conducted across multiple European countries, with notable concentration in France and Spain, which each host two trials. Sweden, Germany, Hungary, and Italy each host one trial.
Two of the trials focus specifically on infants under 1 year of age, highlighting the critical importance of early intervention in this condition. The third trial examines long-term safety in patients who have already participated in previous INZ-701 studies, including those older than 1 year, providing important information about sustained treatment effects.
INZ-701 is administered as a subcutaneous injection in all trials and is classified as an enzyme replacement therapy. The medication aims to increase levels of inorganic pyrophosphate in the body, which may help prevent the abnormal calcium deposits that characterize these conditions. The trials collectively examine both immediate safety and tolerability as well as long-term outcomes including survival, heart function, and growth in affected children.
