In short
Two clinical trials are currently studying new treatments for Pseudoxanthoma Elasticum (also known as PXE). These studies are exploring different approaches to managing the condition, including preventing arterial calcification and improving long-term safety of enzyme replacement therapy. The trials are taking place in France, Germany, and the Netherlands.
Clinical trial locations
- France
- Germany
- Netherlands
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 investigating the long-term safety of INZ-701, an investigational treatment for people with genetic conditions including Pseudoxanthoma Elasticum, Generalized Arterial Calcification of Infancy, and deficiencies in ENPP1 and ABCC6. These conditions affect how the body processes minerals and can lead to problems with the skin, eyes, and blood vessels.
Main inclusion criteria: To join this study, you must have already completed an earlier INZ-701 clinical trial for ENPP1 or ABCC6 deficiency. You need to be over 1 year old and able to provide informed consent. Women who can become pregnant must use highly effective birth control from one month before the first dose until 30 days after the last dose. Men who are sexually active must use condoms during the same period. The study doctor must believe you can complete all parts of the study.
Main exclusion criteria: Interestingly, patients with Pseudoxanthoma Elasticum, GACI, ENPP1 deficiency, or ABCC6 deficiency are listed in the exclusion criteria, which appears to be an error in the trial documentation, as these are the conditions being studied.
Focus and goal: The study follows participants who have already received INZ-701 in a previous trial to see how they respond over a longer period. Researchers will monitor for any side effects or changes in health through regular clinical laboratory tests including blood work and urinalysis. The study will also measure how the drug moves through the body and its effects on certain blood components. The trial is expected to conclude by December 31, 2030.
Investigational drug: INZ-701 is a specially designed protein given as an injection under the skin. It is an enzyme replacement therapy that aims to help manage these rare genetic conditions by potentially correcting enzyme deficiencies that lead to abnormal calcification in the body.
Study on Preventing Arterial Calcification in Young Patients with Pseudoxanthoma Elasticum Using Etidronate
This trial is testing whether a medication called Etidronate Disodium can prevent or slow down the buildup of calcium in the arteries of young people with Pseudoxanthoma Elasticum. Calcium deposits in the arteries are a common problem in PXE and can affect blood flow.
Main inclusion criteria: You must be between 18 and 55 years old and have a definitive diagnosis of PXE. The diagnosis requires meeting at least two criteria from different categories: skin, eye, or genetics. For the skin category, this includes having yellowish bumps on the neck or skin folds, or a skin biopsy showing specific changes in elastic fibers. For the eye category, you need either a "peau d'orange" appearance of the retina or angioid streaks. For the genetics category, you must have harmful mutations in both copies of the ABCC6 gene, or have a first-degree relative who independently meets the diagnostic criteria. Women who can become pregnant must use effective birth control.
Main exclusion criteria: You cannot participate if you do not have PXE, if you are outside the specified age range, or if you are part of a vulnerable population that needs special protection.
Focus and goal: The study aims to determine if taking Etidronate Disodium for 24 months can stop the progression of calcium deposits in the arteries of the legs and neck. This is a double-blind trial, meaning neither participants nor researchers will know who is receiving the actual medication or placebo during the study. Throughout the trial, various tests will be conducted including CT scans and ultrasound to measure calcium buildup and artery thickness. The study will also assess the impact of treatment on eye health, skin condition, and overall quality of life.
Investigational drug: Etidronate Disodium is a type of medication called a bisphosphonate, taken orally as capsules at a dosage of 400 mg. It works by interfering with the process that leads to the hardening of tissues due to calcium deposits. This medication is typically used to manage bone disorders and is being tested to see if it can prevent abnormal mineral deposits in the arteries of people with PXE.
Summary
Currently, two clinical trials are offering research opportunities for people with Pseudoxanthoma Elasticum. These studies take different approaches to managing the condition. One focuses on long-term safety monitoring of an enzyme replacement therapy called INZ-701, available in France and Germany. The other investigates whether Etidronate, a bisphosphonate medication, can prevent arterial calcification in younger patients and is taking place in the Netherlands.
The trials differ in their target populations and treatment approaches. The INZ-701 study is open to people over 1 year old who have already participated in a previous trial, while the Etidronate study specifically targets adults between 18 and 55 years old. Both studies reflect ongoing efforts to find effective treatments for this rare genetic condition and its complications, particularly focusing on preventing or managing arterial calcification, which is a significant concern for people living with PXE.
