ORPHA:36383
COL4A1/2-related familial vascular leukoencephalopathy
Also known as: COL4A-related brain small vessel disease with hemorrhage · COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome · COL4A1/COL4A2-related familial vascular leukoencephalopathy
Publications
89
59.5th percentile
Trials
1
Interventional, condition-specific
Researchers
853
Distinct authors in sample
Gene link
COL4A1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
Additional Mondo synonyms (16)
ADT1P · BSVD · BSVD1 · COL4A1 porencephaly · COL4A1-related brain small vessel disease with haemorrhage · T1P · brain small vessel disease with axenfeld-rieger anomaly · brain small vessel disease with haemorrhage · brain small vessel disease with hemorrhage · brain small vessel disease with or without ocular anomalies · hemiplegia, infantile, with porencephaly · leukoencephalopathy with axenfeld-rieger anomaly · porencephaly 1 · porencephaly caused by mutation in COL4A1 · porencephaly type 1 · retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant
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
Strong — COL4A1
- LiteraturePresent
89 matched papers (68 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?
Yes — we know a specific gene responsible (COL4A1).
GenCC classification: Strong.
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?
89
89 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.
89 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).
68 in the last 10 years · medium confidence · 59.5th percentile (publications denominator)
Phrase hits: 89 · MeSH hits: 0
Who's working on it?
853
Distinct author names in 89 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.
- 01Li L3 papers · 2026
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 02Moosajee M3 papers · 2020
UCL Institute of Ophthalmology 11-43 Bath Street London EC1V 9EL, UK.
Papers in Europe PMC - 03Wei X3 papers · 2026
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China. weixm@bgi.com.
Papers in Europe PMC - 04Xu Y3 papers · 2023
Department of Neurology, Nanfang Hospital, The Southern Medical University, Guangzhou, China.
Papers in Europe PMC - 05
- 06Al-Gazali L2 papers · 2013Papers in Europe PMC
- 07Bateman JF2 papers · 2022
Musculoskeletal Research, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville Victoria, Australia.
Papers in Europe PMC - 08Battini R2 papers · 2026
Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy.
Papers in Europe PMC - 09Bi W2 papers · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Papers in Europe PMC - 10Chen L2 papers · 2024
Prenatal Diagnosis Center, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China.
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).
medium 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 name phrase
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 name phrase
- 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 name phrase
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.
"COL4A1/2-related familial vascular leukoencephalopathy" OR "COL4A-related brain small vessel disease with hemorrhage" OR "COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome" OR "COL4A1/COL4A2-related familial vascular leukoencephalopathy" OR "ADT1P" OR "BSVD1" OR "COL4A1 porencephaly" OR "COL4A1-related brain small vessel disease with haemorrhage" OR "brain small vessel disease with axenfeld-rieger anomaly" OR "brain small vessel disease with haemorrhage" OR "brain small vessel disease with hemorrhage" OR "brain small vessel disease with or without ocular anomalies" OR "hemiplegia, infantile, with porencephaly" OR "leukoencephalopathy with axenfeld-rieger anomaly" OR "porencephaly 1" OR "porencephaly caused by mutation in COL4A1" OR "porencephaly type 1" OR "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant"
MeSH descriptor terms unioned into the query: Familial vascular leukoencephalopathy; [OBSOLETE] Brain Small Vessel Disease with Hemorrhage
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"COL4A1/2-related familial vascular leukoencephalopathy" OR "COL4A-related brain small vessel disease with hemorrhage" OR "COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome" OR "COL4A1/COL4A2-related familial vascular leukoencephalopathy" OR "ADT1P" OR "BSVD1" OR "COL4A1 porencephaly" OR "COL4A1-related brain small vessel disease with haemorrhage" OR "brain small vessel disease with axenfeld-rieger anomaly" OR "brain small vessel disease with haemorrhage" OR "brain small vessel disease with hemorrhage" OR "brain small vessel disease with or without ocular anomalies" OR "hemiplegia, infantile, with porencephaly" OR "leukoencephalopathy with axenfeld-rieger anomaly" OR "porencephaly 1" OR "porencephaly caused by mutation in COL4A1" OR "porencephaly type 1" OR "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant" OR "Familial vascular leukoencephalopathy" OR "[OBSOLETE] Brain Small Vessel Disease with Hemorrhage" OR "COL4A1"
Recall-expansion terms: COL4A1
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: 1 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: BSVD; T1P
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T23:53:25.201Z