Preventing calcification in patients with Pseudoxanthoma Elasticum

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This clinical trial aims to evaluate the effectiveness of etidronate in reducing ectopic calcification in young adults diagnosed with Pseudoxanthoma Elasticum (PXE). Participants aged 18 to 50 will be randomly assigned to receive either etidronate or a placebo for a duration of 24 months. The primary outcome will be measured by comparing arterial calcification scores in the legs and carotid syphon using low-dose CT scans before and after treatment. The study seeks to address the underlying calcification issues associated with PXE, which can lead to severe complications such as visual impairment and cardiovascular problems.

Why it matters

Who can join: the full rules

Inclusion Criteria:

In order to be eligible to participate in this study, a subject must meet all of the following criteria:

* 1\. Be between 18 years and 50 years.
* 2\. Have a definitive diagnosis of PXE according to the Plomp criteria, which confirm a diagnosis of PXE when at least two (or more) criteria not belonging to the same category (skin, eye, genetic) are met:

  1. Skin

     1. Yellowish papules and/or plaques on the lateral side of the neck and/or flexural areas of the body or
     2. Increase of morphologically altered elastin with fragmentation, clumping and calcification of elastic fibers in a skin biopsy taken.
  2. Eye

     1. Peau d'orange of the retina or
     2. One or more angioid streaks (AS), each at least as long as one disk diameter. When in doubt, fluorescein or indocyanine green angiography of the fundus is needed for confirmation.
  3. Genetics

     1. A pathogenic mutation of both alleles of the ABCC6 gene or
     2. A first-degree relative (parent, sibling or child) who meets independently the diagnostic criteria for definitive PXE
* 3\. Fertile women must take adequate anticonception.

Exclusion Criteria:

A potential subject who meets any of the following criteria will be excluded from participation in this study:

1. Patients that are unable or unwilling to sign for informed consent.
2. Pregnant, lactating, or fertile women who might wish to become pregnant within three years.\*\*
3. Patients with an estimated glomerular filtration rate below 30 ml/min/1.73m2 according to the CKD-EPI equation.31
4. Patients with a known abnormality of the oesophagus that would interfere with passage of the drug (e.g. oesophagus stenosis).
5. Patients with chronic diarrhoea (\> 1 month).
6. Patients with known osteomalacia;
7. Patients with hypocalcaemia (calcium \<2.20 mmol/L corrected for albumin)\*.
8. Patients with a vitamin D deficiency (\<35 nmol/L)\*.
9. Patients that used a bisphosphonate in the last 5 years.
10. Patients with known sensitivity to etidronate.
11. Any other medical or social condition that, at the discretion of the Principal Investigator, might put the subject at risk of harm during the study or might adversely affect the interpretation of the study data.

    * After correction a patient is again suitable for participation, as long as inclusion criteria are met (more information in paragraph 7.3.3).

      * Subjects that become pregnant during the trial will be excluded from further participation.

Where it's running

• University Medical Center Utrecht
  Utrecht, Netherlands Recruiting

Study contacts

• Study coordinator: Wilko Spiering, MD, PhD
• Email: w.spiering@umcutrecht.nl
• Phone: + 88 755 5555

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Purinergic compounds for people with pseudoxanthoma elasticum

  This trial will try purinergic compounds to see if restoring pyrophosphate-related signals can reduce tissue calcification in adults with genetically confirmed pseudoxanthoma elasticum.

  Recruiting Centre Hospitalier Universitaire de Nice · Angers and 1 other locations · NCT07323082

• Tracking PXE-related changes at the back of the eye over time

  This study will see if repeated high-resolution eye imaging can track changes in Bruch's membrane, choriocapillaris blood flow, and retinal atrophy in people with PXE.

  Recruiting University Hospital, Bonn · Bonn, North Rhine-Westphalia · NCT07048106

• Choriocapillaris blood flow differences in people with pseudoxanthoma elasticum versus healthy adults

  We will test whether a noninvasive eye scan (OCT angiography) shows reduced choriocapillaris blood flow in adults with pseudoxanthoma elasticum compared with matched healthy adults.

  Recruiting University Hospital, Angers · Angers · NCT07006649

• Optimizing recruitment and follow-up for people with pseudoxanthoma elasticum

  This project will try new ways of recruiting and following people with PXE treated at the national reference center to see if care and monitoring improve.

  Recruiting University Hospital, Angers · Angers · NCT06636344

• Using PPI to Treat Pseudoxanthoma Elasticum

  This study is testing if taking a supplement called pyrophosphate can help adults with Pseudoxanthoma Elasticum reduce harmful calcification in their bodies.

  Recruiting at 2 sites Centre Hospitalier Universitaire de Nice · Angers and 1 other locations · NCT04868578

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.