Not recruitingRare disease

Study of ilofotase alfa effects on biomarkers in adults with hypophosphatasia

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What is this trial about?

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

This study examines hypophosphatasia, a rare genetic condition that affects bones and teeth due to low levels of an enzyme called alkaline phosphatase. People with this condition have problems with bone development and strength because their bodies cannot properly process certain substances. The treatment being tested is ilofotase alfa, which is given as an infusion into a vein. This medication is designed to replace the missing enzyme and help the body process substances that build up in people with this condition.

The purpose of the study is to see how ilofotase alfa affects certain substances in the blood of adults with hypophosphatasia. Specifically, researchers want to measure changes in two substances called inorganic pyrophosphate and pyridoxal 5'-phosphate after patients receive either a low dose or a high dose of the medication. The study will look at the biochemical profile, which means the levels of various substances in the blood, to understand how the medication works in the body.

During the study, patients will receive a single dose of ilofotase alfa through an intravenous infusion. The medication will be prepared from a concentrate for solution for infusion. Patients will be monitored to see how their blood chemistry changes after receiving the treatment. This is an open-label pilot trial, which means both the patients and doctors will know what treatment is being given, and it involves a small number of participants to gather initial information about how the medication affects adults with this rare condition.

The research process

The trial runs in 3 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Initial assessment and confirmation
Your eligibility will be confirmed based on specific criteria. You must be between 18 and 85 years old.
A genetic test must have confirmed a change in the ALPL gene, which is responsible for producing an enzyme called alkaline phosphatase in your body.
You must have clinical symptoms of hypophosphatasia, a condition that affects bone and tooth development.
Your medical history must show at least two separate measurements of alkaline phosphatase below the normal range, and at least one measurement of either inorganic pyrophosphate or pyridoxal 5'-phosphate above the normal range. These are substances that build up in the body when hypophosphatasia is present.
You will need to sign an informed consent form after receiving information about the trial.
If you are sexually active, you must agree to use double-barrier contraception during the trial and for 14 days after receiving the trial medication.
Step 2
Treatment administration
You will receive a single dose of ilofotase alfa. This medication is given as an intravenous infusion, meaning it will be delivered directly into your vein.
The medication is prepared as a concentrate for solution for infusion.
You will receive either a low dose or a high dose of ilofotase alfa. The specific dosage amount is not detailed in the available information.
Step 3
Monitoring and measurements
After receiving the medication, your blood levels will be monitored to measure changes in specific substances.
The main substances being measured are inorganic pyrophosphate and pyridoxal 5'-phosphate. These are chemicals that accumulate in the body due to hypophosphatasia.
Your biochemical profile will be assessed to determine how the medication affects these levels in your body.
The monitoring will continue for 14 days after you receive the medication, as this is the period during which contraception must be maintained.

Who can join the trial?

7 criteria

You must be between 18 and 85 years old.
You must have a genetic test that confirms a change in the ALPL gene, which is the gene responsible for making an enzyme called alkaline phosphatase in your tissues.
You must have symptoms of hypophosphatasia, which means you are experiencing health problems related to this condition.
Your medical records must show that on at least two separate occasions your alkaline phosphatase levels were below the normal range. Alkaline phosphatase is an enzyme in your body that helps with bone and tissue health.
Your medical records must also show that at least once, either your PPi levels (a substance called inorganic pyrophosphate) or your PLP levels (a form of vitamin B6 called pyridoxal 5'-phosphate) were above the normal range.
You must sign and date an informed consent form before starting the study, which means you agree to participate after understanding what the study involves.
If you are sexually active, you must agree to use two forms of birth control at the same time from the time you receive the study medication until 14 days after your last dose.

Who cannot join the trial?

2 criteria

The study information does not list specific reasons why patients cannot participate in this clinical trial.
If you are interested in participating, the research team will review your individual health situation to determine if you are eligible.

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Universitaetsklinikum Wuerzburg AöR
Wuerzburg, Germany

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Investigated drugs

Ilofotase alfa is a medication being tested to treat hypophosphatasia, a rare genetic condition that affects bone and tooth development. This medication works as a replacement enzyme therapy, meaning it provides a version of an enzyme that the body is not making enough of naturally. In people with hypophosphatasia, the body lacks sufficient amounts of an enzyme called alkaline phosphatase, which is important for proper bone mineralization. Ilofotase alfa is designed to replace this missing enzyme and help improve bone health by reducing the buildup of certain substances in the body that can interfere with normal bone development.

Ilofotase Alfa

What is already known about the treatment

Ilofotase Alfa – Ilofotase alfa is an enzyme replacement therapy administered through injection under the skin (subcutaneous injection) that is used to treat hypophosphatasia, a rare genetic bone disease. This medication works at the molecular level by replacing the missing or deficient enzyme called alkaline phosphatase, which helps break down certain substances in the body that can build up and prevent bones from hardening properly. By providing the working enzyme, ilofotase alfa helps reduce harmful substances like inorganic pyrophosphate and pyridoxal 5'-phosphate in the blood, allowing bones to develop and strengthen more normally. This treatment is recognized in medical practice as a targeted enzyme replacement therapy for patients with this rare bone disorder.

Investigated diseases

Hypophosphatasia – Hypophosphatasia is a rare inherited metabolic disorder that affects the development of bones and teeth. The condition is caused by low levels of an enzyme called alkaline phosphatase, which is essential for proper mineralization of bones and teeth. People with this disease experience a buildup of certain substances in the body, including inorganic pyrophosphate and pyridoxal 5'-phosphate. The severity of hypophosphatasia varies widely, ranging from mild forms that appear in adulthood to more severe forms that begin in infancy. In adults, the disease may cause bone pain, fractures that heal poorly, and early loss of teeth. The condition progressively affects bone strength and structure over time.