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ORPHA:758

Pseudoxanthoma elasticum

medium confidenceDisorder

Also known as: Gronblad-Strandberg-Touraine syndrome · PXE

Publications

5,418

91.3th percentile

Trials

17

Interventional, condition-specific

Researchers

948

Distinct authors in sample

Gene link

ABCC6

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, disease with connective tissue and eye involvement, characterized by ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

AR inherited pseudoxanthoma elasticum · Gronblad-Strandberg syndrome

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ABCC6

  2. LiteraturePresent

    5,418 matched papers (2,454 in last 10 years) Source

  3. Phenotype characterisedPresent

    69 HPO annotations (e.g. Arterial stenosis; Abnormal cerebral vascular morphology; Bruising susceptibility) Source

  4. Animal modelPresent

    20 genotype models (Mus musculus, Danio rerio, Rattus norvegicus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. Etidronate disodium Source

  6. Interventional trialPresent

    17 matched on ClinicalTrials.gov (6 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (ABCC6).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

69

Associated phenotypes · MONDO:0009925

  • Arterial stenosis
  • Abnormal cerebral vascular morphology
  • Bruising susceptibility
  • Hyperpigmented papule
  • Visual impairment

Showing 5 of 69 — open Monarch for the full list.

Animal models (Monarch / Alliance)

20

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

1

Designation · no FDA orphan-indication approval yet

  • EMA Etidronate disodiumTreatment of pseudoxanthoma elasticum · 11/10/2022 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0009925

CTD chemicals (MyDisease.info)

3 associated chemicals · 13 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • alpha-Tocopherol · therapeutic
  • Ascorbic Acid · therapeutic
  • Vitamin K · therapeutic

Pathways: Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate; Glycosaminoglycan biosynthesis - heparan sulfate / heparin; Metabolic pathways; ABC transporters; Glycosaminoglycan biosynthesis, linkage tetrasaccharide; Metabolism; Glycosaminoglycan metabolism; Heparan sulfate/heparin (HS-GAG) metabolism

MyDisease.info · MONDO:0009925

Literature

Is anyone studying this?

5,418

5,418 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,418 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

2,454 in the last 10 years · medium confidence · 91.3th percentile (publications denominator)

Phrase hits: 4,115 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

948

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Pfau K15 papers · 2026

    From the Department of Ophthalmology (K.R, P.H, F.H, K.P), University of Bonn, Bonn, Germany; Department of Ophthalmology (M.P, K.P), University of Basel, Basel, Switzerland. Electronic address: Kristina.Pfau@ukbonn.de.

    Papers in Europe PMC
  2. 02
    Pfau M13 papers · 2026

    Institute of Molecular and Clinical Ophthalmology Basel (M.P), Basel, Switzerland; Department of Ophthalmology (M.P, K.P), University of Basel, Basel, Switzerland.

    Papers in Europe PMC
  3. 03
    Spiering W12 papers · 2026

    Department of Vascular Medicine, University Medical Center Utrecht, Utrecht University, 3508 GA Utrecht, The Netherlands.

    Papers in Europe PMC
  4. 04
    de Jong PA11 papers · 2026

    Department of Radiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.

    Papers in Europe PMC
  5. 05
    Martin L10 papers · 2026

    PXE Reference Center, MAGEC Nord, Angers University Hospital, 49000 Angers, France.

    Papers in Europe PMC
  6. 06
    Holz FG8 papers · 2025

    From the Department of Ophthalmology (K.R, P.H, F.H, K.P), University of Bonn, Bonn, Germany.

    Papers in Europe PMC
  7. 07
    Raming K7 papers · 2025

    From the Department of Ophthalmology (K.R, P.H, F.H, K.P), University of Bonn, Bonn, Germany.

    Papers in Europe PMC
  8. 08
    Leftheriotis G6 papers · 2026

    University Côte d'Azur, CNRS, LP2M, Labex ICST, 06107 Nice, France.

    Papers in Europe PMC
  9. 09
    van Leeuwen R6 papers · 2026

    Ophthalmology Department, University Medical Center Utrecht, Utrecht, the Netherlands.

    Papers in Europe PMC
  10. 10
    Vanakker OM6 papers · 2026

    Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

17

interventional trials for this specific condition

17 interventional trials matched this specific condition name; 6 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

17 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.4th percentile).

medium confidence · 94.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

17 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

12 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (3)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Pseudoxanthoma elasticum — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Pseudoxanthoma elasticum" OR "Gronblad-Strandberg-Touraine syndrome" OR "AR inherited pseudoxanthoma elasticum" OR "Gronblad-Strandberg syndrome") OR ("ABCC6" OR "ABCC6 syndrome" OR "ABCC6-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Pseudoxanthoma elasticum" OR "Gronblad-Strandberg-Touraine syndrome" OR "AR inherited pseudoxanthoma elasticum" OR "Gronblad-Strandberg syndrome"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 17 interventional · 12 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PXE

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:14:33.899Z