RecruitingNot applicableNCT07323082
Connective Tissue
Pseudoxanthoma Elasticum
Also known as PXE, Gronblad-Strandberg syndrome, ABCC6 deficiency
Pseudoxanthoma elasticum is a systemic metabolic disorder caused by loss-of-function variants in ABCC6, a hepatic ABC transporter involved in purine nucleotide export and systemic mineralisation regulation. Progressive calcification and fra
ORPHA:758 ↗Gene ABCC6Prevalence 1 in 25,000–100,000Onset Childhood to early adulthood (skin), adulthood (vascular/ocular complications)Genetic — autosomal recessive
6
studies recruiting now
as of 7 Sept 2026
32
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
7 Jan 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT06636344
Impact of Optimized Recruitment and Follow-up of Patients With Pseudoxanthoma Elasticum (PXE)
RecruitingNot applicableNCT07006649
CHOPXE - Analysis of Choriocapillaris Flow Deficits in Patients With Pseudoxanthoma Elasticum
RecruitingNCT07048106
Progression Assessment of PXE-associated Alterations
RecruitingNot applicableNCT04868578
PPI Supplementation to Fight ECtopIc Calcification in PXE
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 6 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum is a systemic metabolic disorder caused by loss-of-function variants in ABCC6, a hepatic ABC transporter involved in purine nucleotide export and systemic mineralisation regulation. Progressive calcification and fragmentation of elastic fibres affects the skin, Bruch's membrane in the eye, and the arterial wall, leading to characteristic yellowish skin papules, vision-threatening choroidal neovascularisation, and premature cardiovascular disease. The condition is clinically heterogeneous with highly variable age of onset and severity of complications.
Common clinical features
Yellow xanthoma-like papules on the lateral neck and flexural skin creasesLax, redundant skin with loss of elasticityAngioid streaks on fundoscopy (breaks in Bruch's membrane)Choroidal neovascularisation and progressive central vision lossPremature peripheral arterial disease and claudicationGastrointestinal haemorrhage from calcified mucosal vesselsAccelerated coronary artery disease in young adults
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 1/2Inz-701
Before you apply
Things trial teams commonly ask about for Pseudoxanthoma Elasticum. Not eligibility rules; those are set by each study.
- Ophthalmology records documenting angioid streaks and any history of choroidal neovascularisation are critical screening documents — obtain fluorescein angiography or OCT-A reports.
- Molecular confirmation of biallelic ABCC6 pathogenic variants is required for most interventional trials; research and clinical panels targeting ABCC6 are widely available.
- Cardiovascular risk factor documentation (lipids, ABI, coronary imaging if applicable) is commonly required as trials often stratify by vascular burden.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).