ORPHA:477749
Pontine autosomal dominant microangiopathy with leukoencephalopathy
Also known as: PADMAL
Publications
115
63.5th percentile
Trials
1
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0032814
- OMIM:618564
- UMLS:C5231411
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Moderate — COL4A1
- LiteraturePresent
115 matched papers (84 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov (1 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?
Probably — there is moderate evidence for COL4A1.
GenCC classification: Moderate.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
115
115 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
115 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
84 in the last 10 years · high confidence · 63.5th percentile (publications denominator)
Phrase hits: 115 · MeSH hits: 0
Who's working on it?
747
Distinct author names in 115 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.
- 01De 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 - 02de Silva SH6 papers · 2017
Department of Community Medicine, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. padmaldes@gmail.com.
Papers in Europe PMC - 03Kalaria RN6 papers · 2023
Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, U.K.
Papers in Europe PMC - 04Katulanda P6 papers · 2024
Department of Clinical Medicine, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. pkatulanda@yahoo.com.
Papers in Europe PMC - 05Chabriat 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 - 06Guerreiro 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 - 07Hagel C5 papers · 2023
Institute of Neuropathology, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.
Papers in Europe PMC - 08Joutel 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 - 09Bras 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 - 10De 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?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07374913·RECRUITING·COL4A1COL4A2: Study of Pathological Conditions Involving Multiple Organs Caused by Mutations in the COL4A1 and COL4A2 Genes
Conditions: COL4A1\2 · COL4A1-Related Brain Small Vessel Disease With Haemorrhage·Matched via recall expansion
Observational and natural-history studies
3 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
- NCT06935578·RECRUITING·RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseases (ALIGNED)
Conditions: CADASIL · CADASIL (Diagnosis) · Moya Moya Disease · Moyamoya·Matched via recall expansion
- NCT05473637·RECRUITING·Taiwan Associated Genetic and Nongenetic Small Vessel Disease
Conditions: Cerebral Small Vessel Diseases · Cadasil · HTRA1-Related Autosomal Dominant Cerebral Angiopathy · COL4A1-Related Brain Small Vessel Disease With Haemorrhage·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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"
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" OR "COL4A1"
Recall-expansion terms: COL4A1
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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
Ingested 2026-07-27T17:08:32.869Z