Active not recruitingPHASE3INTERVENTIONAL

The ENERGY 3 Study: Evaluation of Efficacy and Safety of INZ-701 in Children With ENPP1 Deficiency

The ENERGY 3 Study is a research project for children aged 1 to 12 years old who have a very rare genetic condition called ENPP1 Deficiency. This condition can cause problems with bones and blood vessels. Researchers are testing a new medicine called INZ-701 to see if it can help these children. INZ-701 works by replacing a missing enzyme in the body. The study will compare INZ-701 to the standard treatments children currently receive, to find out if it is effective and safe. It's a 'Phase 3' study, meaning it's a later stage of research designed to confirm the medicine's benefits before it might become widely available.

At a glance

Status

Active not recruiting

Phase

PHASE3

Sponsor

Inozyme Pharma

Enrolment target

Start

05 Nov 2023

Estimated completion

01 Feb 2026

Ectonucleotide Pyrophosphatase/Phosphodiesterase1 Deficiency Autosomal Recessive Hypophosphatemic Rickets Generalized Arterial Calcification of Infancy

What is this study about?

The ENERGY 3 Study is looking into a new medicine called INZ-701 for a condition called ENPP1 Deficiency. This is a very rare genetic illness, meaning it's passed down in families, and it affects about 1 in every 64,000 babies. Children with ENPP1 Deficiency can have issues with their bones, like soft or weak bones (known as rickets), and sometimes hardened arteries, which are the blood vessels that carry blood from the heart.

INZ-701 is a special type of medicine designed to replace a missing enzyme in the body called ENPP1. Enzymes are like tiny helpers that make things happen in our bodies. In ENPP1 Deficiency, this enzyme isn't working properly, leading to health problems. By replacing it, doctors hope INZ-701 can improve the health of children with this condition. This study will help us understand if INZ-701 makes a real difference for these children.

The study is in 'Phase 3,' which means it's a large and important step in testing a new medicine. Researchers want to make sure INZ-701 is both effective in treating the condition and safe for children to use. They will compare it to the existing treatments children receive to see if it's better or provides additional help.

Key takeaways

The study is for children aged 1-12 with a rare genetic condition called ENPP1 Deficiency.
It's testing a new medicine, INZ-701, to see if it helps with bone and blood vessel problems.
Participation involves regular clinic visits for about a year, potentially followed by an extended period.
Children will either receive INZ-701 or standard care during the first year, then all can get INZ-701.
This is a Phase 3 study, meaning it's a big step towards potentially making the medicine available.
You can stop participating at any time if you wish.

Who may be eligible?

This study is particularly looking for boys and girls between 1 and 12 years old who have been officially diagnosed with ENPP1 Deficiency through a special genetic test. It's important that their growth plates are still open in their legs; these are areas in bones where growth happens. Also, their current blood levels of certain chemicals related to the condition need to be within a specific range.

For girls who are old enough to have children, they must not be pregnant or breastfeeding. If they are sexually active, they'll need to agree to use effective birth control during the study. All participants or their parents/guardians will need to give their informed consent, which means understanding what the study involves and agreeing to take part.

You wouldn't be able to join the study if you have other serious health problems not related to ENPP1 Deficiency that could make taking part unsafe or make it hard to understand the study results. Also, if you're taking certain medications like strong steroid medicines, you might not be able to participate. The study doctor will carefully check if this study is right for your child.

Quick self-check

Is your child between 1 and 12 years old?
Does your child have a confirmed genetic diagnosis of ENPP1 Deficiency?
Does your child currently have open growth plates in their legs (from X-rays)?
Is your child currently not pregnant or breastfeeding (if applicable)?
Is your child able to follow all study procedures, in the doctor's opinion?

This is a guide only — the research team will confirm whether you can take part.

What does participation involve?

If you decide to take part, the study will start with a screening period of up to 52 days. During this time, doctors will do tests to make sure your child is eligible for the study. After screening, there's a wash-out period of up to 7 days if your child needs to stop any medications that aren't allowed in the study.

Once eligible, your child will be randomly assigned to receive either the study medicine, INZ-701, or their usual care for 52 weeks (about one year). 'Randomly assigned' means it's like flipping a coin to decide, ensuring fairness. Two out of three children will receive INZ-701. After this initial year, all children in the study will be offered INZ-701 in an 'Open-label Extension Period' where everyone receives the new medicine. There will be regular visits to the clinic for check-ups, tests, and to get the study medicine. About 30 days after the very last dose of INZ-701, there will be a final safety check-up. The exact number of visits and tests will be explained by the study team.

Potential risks and benefits

Taking part in a study like this might offer potential benefits, such as access to a new medicine (INZ-701) that could improve your child's ENPP1 Deficiency, and close monitoring by medical experts. However, there are also potential risks, including possible side effects from the medicine, extra clinic visits, and undergoing various tests. You will be given a document that lists all known and potential side effects. You have the right to withdraw your child from the study at any time, for any reason, without it affecting their future medical care.

Locations (15)

Children's Hospital of Colorado
Aurora, United States
Ann & Robert H. Lurie Children's Hospital
Chicago, United States
Boston Children's Hospital
Boston, United States
Nationwide Children's Hospital
Columbus, United States
The Children's Hospital of Philadelphia
Philadelphia, United States
Cook Children's Medical Center
Fort Worth, United States
Queensland Children's Hospital
South Brisbane, Australia
Centre Hospitalier Universitaire (CHU) Sainte-Justine
Montreal, Canada
Hôpital Bicêtre, Service d'endocrinologie et diabète de l'enfant (Childhood Endocrinology and Diabetes Department)
Le Kremlin-Bicêtre, France
King Faisal Specialist Hospital and Research Centre
Riyadh, Saudi Arabia
Hospital San Joan de Deu
Barcelona, Spain
Umraniye Training and Research Hospital
Istanbul, Turkey (Türkiye)

+3 more sites — see the official record for the full list.

Common questions

What is ENPP1 Deficiency?

It's a rare genetic condition where a certain enzyme (ENPP1) doesn't work properly, leading to problems with bones and sometimes blood vessels.

What is INZ-701?

It's a new medicine being tested that aims to replace the missing ENPP1 enzyme in children with this condition.

Who can join the study?

Children aged 1 to 12 with a confirmed diagnosis of ENPP1 Deficiency, who meet specific health and medical criteria.

Will my child definitely get the new medicine?

For the first year, your child has a two-thirds chance of receiving INZ-701. After that, all children in the study will have the option to receive it.

What if I change my mind during the study?

You can withdraw your child from the study at any time, and it won't affect their regular medical care.