ORPHA:466934
VPS11-related autosomal recessive hypomyelinating leukodystrophy
Also known as: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
21
37.1th percentile
Trials
0
Interventional, condition-specific
Researchers
209
Distinct authors in sample
Gene link
VPS11
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global with very limited or absent speech and sometimes complete absence of motor development, , spasticity, and acquired microcephaly. , hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.
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:0014732
- OMIM:616683
- UMLS:C4225247
Additional Mondo synonyms (6)
HLD12 · VPS11 leukodystrophy · hypomyelinating leukodystrophy type 12 · leukodystrophy caused by mutation in VPS11 · leukodystrophy, hypomyelinating, 12 · leukodystrophy, hypomyelinating, type 12
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — VPS11
- LiteraturePresent
21 matched papers (20 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 trialPartial
None under the specific name; 31 for broader category leukodystrophy
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 (VPS11).
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?
21
21 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.
21 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).
20 in the last 10 years · high confidence · 37.1th percentile (publications denominator)
Phrase hits: 21 · MeSH hits: 0
Who's working on it?
209
Distinct author names in 21 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.
- 01Yamauchi J3 papers · 2023
Laboratory of Molecular Neurology, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0392, Japan.
Papers in Europe PMC - 02Jiang Y2 papers · 2022
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Papers in Europe PMC - 03Li D2 papers · 2018
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Papers in Europe PMC - 04Li M2 papers · 2022
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Papers in Europe PMC - 05Miyamoto Y2 papers · 2021
Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan.
Papers in Europe PMC - 06Mizoguchi K2 papers · 2021
Tsumura Research Laboratories, Tsumura & Co., Inashiki, Ibaraki 200-1192, Japan.
Papers in Europe PMC - 07Ohbuchi K2 papers · 2021
Tsumura Research Laboratories, Tsumura & Co., Inashiki, Ibaraki 200-1192, Japan.
Papers in Europe PMC - 08Oizumi H2 papers · 2021
Tsumura Research Laboratories, Tsumura & Co., Inashiki, Ibaraki 200-1192, Japan.
Papers in Europe PMC - 09Yang Y2 papers · 2025
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Papers in Europe PMC - 10Zhang Y2 papers · 2022
Department of Pediatrics, Peking University First Hospital, Beijing, China.
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). 31 trials are registered for leukodystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
31 interventional trials matched leukodystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: leukodystrophy
31
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT06369974·ENROLLING BY INVITATION·Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy
Conditions: Genetic Disease·Matched via name phrase
- NCT05443906·RECRUITING·Home Exercise for Individuals with Neurodegenerative Disease
Conditions: Neurodegenerative Diseases · Leukodystrophy · Ataxia · LBSL·Matched via name phrase
- NCT03725670·RECRUITING·Direct Lentiviral Injection Gene Therapy for MLD
Conditions: Metachromatic Leukodystrophy (MLD)·Matched via name phrase
- NCT02254863·RECRUITING·UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
Conditions: Adrenoleukodystrophy · Batten Disease · Mucopolysaccharidosis II · Leukodystrophy, Globoid Cell·Matched via name phrase
- NCT07046338·RECRUITING·Lentiviral Hematopoietic Stem Cell Gene Therapy for MLD
Conditions: Metachromatic Leukodystrophy (MLD)·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.
"VPS11-related autosomal recessive hypomyelinating leukodystrophy" OR "VPS11-related autosomal recessive hypomyelinating leukoencephalopathy" OR "HLD12" OR "VPS11 leukodystrophy" OR "hypomyelinating leukodystrophy type 12" OR "leukodystrophy caused by mutation in VPS11" OR "leukodystrophy, hypomyelinating, 12" OR "leukodystrophy, hypomyelinating, type 12"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"VPS11-related autosomal recessive hypomyelinating leukodystrophy" OR "VPS11-related autosomal recessive hypomyelinating leukoencephalopathy" OR "HLD12" OR "VPS11 leukodystrophy" OR "hypomyelinating leukodystrophy type 12" OR "leukodystrophy caused by mutation in VPS11" OR "leukodystrophy, hypomyelinating, 12" OR "leukodystrophy, hypomyelinating, type 12" OR "VPS11" OR "VPS11-related neurological disorder"
Recall-expansion terms: VPS11, VPS11-related neurological disorder
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"leukodystrophy"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-27T17:02:40.583Z