PPI Supplementation to Fight ECtopIc Calcification in PXE

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

99 participants

Study Classification

INTERVENTIONAL

Study Start Date

2022-12-13

Study Completion Date

2027-09-01

Brief Summary

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Pseudoxanthoma elasticum (PXE) is a rare inherited metabolic disorder (OMIM 264800, frequency 1/25000) characterized by progressive ectopic calcification of connective tissues. PXE mainly affects the skin (inesthetic papules and plaques in the skin folds), the retina (central blindness), the vasculature (peripheral arterial occlusive disease and stroke) and the renal system (renal lithiasis) in adulthood. Although rarely, early lethal forms have been reported. This chronic and highly disabling condition results from a loss of function of the gene encoding for the ABCC6 membrane transporter primarily expressed in the hepatocytes and renal tubular cells. Recently, it has been reported that PXE was characterized by a 50-60% decrease in the plasma level of inorganic pyrophosphate (PPi), a major physiological anti-calcifying factor. PXE is an incurable disease which therapeutic options are limited to symptomatic treatments to stem the devastating effect of the ectopic calcifications. Recently, encouraging proof of concept studies with animals PXE models and healthy volunteers have shown that, contrary to what was initially reported and thought, the oral administration of PPi salts are able to increase PPi plasma levels, opening up new therapeutic perspectives in PXE. Therefore, we propose to perform the first Phase II randomized controlled trial (RCT) to evaluate the safety and efficacy of a daily and oral administration of PPi salts against placebo in PXE patients.

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Detailed Description

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Conditions

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Pseudoxanthoma Elasticum

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

TREATMENT

Blinding Strategy

DOUBLE

Participants Investigators

Study Groups

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PPI

the patient take PPI caps

Group Type EXPERIMENTAL

study treatment PPI

Intervention Type DIETARY_SUPPLEMENT

patient take PPI every day during 12 months

PPI placebo

The patient take PPI placebo

Group Type PLACEBO_COMPARATOR

Placebo comparator

Intervention Type DIETARY_SUPPLEMENT

patient take PPI placebo every day during 12 months

Interventions

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study treatment PPI

patient take PPI every day during 12 months

Intervention Type DIETARY_SUPPLEMENT

Placebo comparator

patient take PPI placebo every day during 12 months

Intervention Type DIETARY_SUPPLEMENT

Eligibility Criteria

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Inclusion Criteria

* Patients (\>18 years and \<65 years), men and women, presenting a clinically and biologically authenticated PXE (genotype + phenotype) according to the international diagnostic criteria (26).
* Efficient contraceptive method in woman of childbearing age at inclusion and during the overall study
* Patient affiliated to a social security insurance
* Signed informed consent
* Patient without acute complication linked or not to the pathology at the time of the study

* Renal insufficiency (i.e. defined by a renal clearance \<30ml / min / 1.73 m²)
* Patients with osteomalacia
* Patients with chronic diarrhea (\> 1 month)
* Pregnancy, lactating or fertile women who may wish to become pregnant within three years.
* Any other medical condition that may be considered in the opinion of the Principal Investigator.
* Use of bisphosphonate during last 5 years.
* Hypocalcemia (calcium \<2.20 mmol/L and ionized calcium \<1.15 mmol/L) \*.
* Vitamin D deficiency \<35 nmol/L \*
* Enrollment in another inteventional clinical trial which could interfere with the present study
* patients (\>18 years) protected by law

Minimum Eligible Age

18 Years

Maximum Eligible Age

65 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No