A placebo-controlled, double-blind randomized trial evaluating the effect of etidronate in young patients with pseudoxanthoma elasticum on ectopic mineralization.

Phase 3

Recruiting

• Conditions: Grönblad-Strandberg syndrome; Pseudoxantoma elasticum; 10047060; 10014982; 10003216

• Registration Number: NL-OMON54216
• Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 76

Inclusion Criteria

In order to be eligible to participate in this study, a subject must meet all
of the following criteria:
- Be between 18 years and 55 years.
- 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
a. Yellowish papules and/or plaques on the lateral side of the neck and/or
flexural areas of the body or
b. Increase of morphologically altered elastin with fragmentation, clumping and
calcification of elastic fibers in a skin biopsy taken.
2. Eye
a. Peau d'orange of the retina or
b. 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
a. A pathogenic mutation of both alleles of the ABCC6 gene or
b. A first-degree relative (parent, sibling or child) who meets independently
the diagnostic criteria for definitive PXE

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.
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 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.

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Arterial calcification in the legs and carotid syphons measured on low dose Ct<br /><br>scan. </p><br>