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ORPHA:477749

Pontine autosomal dominant microangiopathy with leukoencephalopathy

low confidenceDisorder

Also known as: PADMAL

Publications

9,224

Trials

0

Interventional, condition-specific

Researchers

747

Distinct authors in sample

Gene link

COL4A1

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT · pontine autosomal dominant microangiopathy with leukoencephalopathy

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.”

3/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Moderate — COL4A1

  2. LiteraturePresent

    9,224 matched papers (7,459 in last 10 years) Source

  3. Phenotype characterisedPresent

    4 HPO annotations (e.g. Postural instability; Hyperintensity of cerebral white matter on MRI; Cognitive impairment) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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?

Probably — there is moderate evidence for COL4A1.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

4

Associated phenotypes · MONDO:0032814

  • Postural instability
  • Hyperintensity of cerebral white matter on MRI
  • Cognitive impairment
  • Dementia

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

9,224

9,224 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.

9,224 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).

7,459 in the last 10 years · low confidence

Phrase hits: 115 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

747

Distinct author names in 115 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    De Silva P22 papers · 2026

    Department of Psychology, Institute of Psychiatry, King's College London, De Crespigny Park, SE5 8AF, London, UK. p.desilva@iop.ac.uk

    Papers in Europe PMC
  2. 02
    de Silva SH6 papers · 2017

    Department of Community Medicine, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. padmaldes@gmail.com.

    Papers in Europe PMC
  3. 03
    Kalaria RN6 papers · 2023

    Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, U.K.

    Papers in Europe PMC
  4. 04
    Katulanda P6 papers · 2024

    Department of Clinical Medicine, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. pkatulanda@yahoo.com.

    Papers in Europe PMC
  5. 05
    Chabriat H5 papers · 2024

    From the Paris-Cité University (R.Z., J.L., H.C.), Inserm U1141 NeuroDiderot, France; Department of Radiology (R.Z.), the Second Affiliated Hospital of Zhejiang University, School of Medicine, Hangzhou, China; Department of Neurology (C.-H.C., Y.-W.C., S.-C.T.), National Taiwan University Hospital, Taipei; Department of Clinical Neurosciences (C.-H.C.), University of Calgary, Alberta, Canada; Sorbonne Université (S.T.D.M.), Paris Brain Institute, INSERM, INRIA, CNRS, APHP; Lariboisière University Hospital (J.L., H.C.), APHP, Translational Neurovascular Centre and Department of Neurology, Reference Center for Rare Vascular Diseases of the Central Nervous System and the Retina (CERVCO), FHU NeuroVasc, Paris, France; Department of Neurology (Y.-W.C.), National Taiwan University Hospital Hsinchu Branch; Institute for Stroke and Dementia Research (M.D.), University Hospital, Ludwig Maximilian University, Munich; German Center for Neurodegenerative Diseases (DZNE) (M.D.), Munich; and Munich Cluster for Systems Neurology (SyNergy) (M.D.), Germany. hugues.chabriat@aphp.fr.

    Papers in Europe PMC
  6. 06
    Guerreiro R5 papers · 2025

    Center for Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI, USA; Division of Psychiatry and Behavioral Medicine, Michigan State University College of Human Medicine, Grand Rapids, MI, USA. Electronic address: Rita.Guerreiro@vai.org.

    Papers in Europe PMC
  7. 07
    Hagel C5 papers · 2023

    Institute of Neuropathology, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

    Papers in Europe PMC
  8. 08
    Joutel A5 papers · 2025

    Institute of Psychiatry and Neurosciences of Paris, Inserm, University Paris Descartes, DHU NeuroVasc, Sorbonne Paris Cité, Paris, France.

    Papers in Europe PMC
  9. 09
    Bras J4 papers · 2022

    Center for Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI, USA; Division of Psychiatry and Behavioral Medicine, Michigan State University College of Human Medicine, Grand Rapids, MI, USA.

    Papers in Europe PMC
  10. 10
    De Silva AP4 papers · 2018

    Department of Community Medicine, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. pubududesilva@ymail.com.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 31 · after dedupe 31 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 31 · dropped 0 · fetched 2026-07-30

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 (31)

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 Pontine autosomal dominant microangiopathy with leukoencephalopathy — 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.

("Pontine autosomal dominant microangiopathy with leukoencephalopathy" OR "PADMAL" OR "MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT") OR ("COL4A1" OR "COL4A1 syndrome" OR "COL4A1-related")

Run this search on Europe PMC

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

"Pontine autosomal dominant microangiopathy with leukoencephalopathy" OR "PADMAL" OR "MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT"

Study-type breakdown: 0 interventional · 0 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (9224) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T17:08:32.869Z