ORPHA:542310
Leukoencephalopathy with calcifications and cysts
Also known as: LCC · Labrune syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
164
70.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,164
Distinct authors in sample
Gene link
SNORD118
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, , and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features.
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:0013803
- MeSH:C000598644
- OMIM:614561
- UMLS:C3281200
Additional Mondo synonyms (1)
leukoencephalopathy, brain calcifications, and cysts
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.”
2/6 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.
- Gene identifiedPresent
Strong — SNORD118
- LiteraturePresent
164 matched papers (128 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 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?
Yes — we know a specific gene responsible (SNORD118).
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?
164
164 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.
164 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).
128 in the last 10 years · medium confidence · 70.6th percentile (publications denominator)
Phrase hits: 164 · MeSH hits: 0
Who's working on it?
1,164
Distinct author names in 164 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.
- 01Crow YJ14 papers · 2025
Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, United Kingdom Department of Genetics, INSERM U781, Université Paris Descartes- Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France.
Papers in Europe PMC - 02van der Knaap MS11 papers · 2024
Department of Pediatrics/Child Neurology, VU University Medical Centre, Amsterdam Neuroscience, Amsterdam, The Netherlands.
Papers in Europe PMC - 03Vanderver A9 papers · 2022
Department of Neurology and Center for Genetic Medicine Research, Children's National Health System, Washington DC, USA; Department of Integrated Systems Biology, George Washington University School of Medicine, Washington DC, USA. Electronic address: avanderv@childrensnational.org.
Papers in Europe PMC - 04Livingston JH6 papers · 2024
Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
Papers in Europe PMC - 05Rice GI6 papers · 2021
Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.
Papers in Europe PMC - 06Schiffmann R6 papers · 2021
Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX, USA.
Papers in Europe PMC - 07Battini R5 papers · 2024
Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy.
Papers in Europe PMC - 08Helman G5 papers · 2022
Department of Neurology and Center for Genetic Medicine Research, Children's National Health System, Washington DC, USA.
Papers in Europe PMC - 09Jenkinson EM5 papers · 2021
Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, United Kingdom.
Papers in Europe PMC - 10Labauge P5 papers · 2018
Department of Neurology, CHU Montpellier, Montpellier, France.
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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
medium 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
2 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
- NCT03047369·RECRUITING·The Myelin Disorders Biorepository Project
Conditions: Leukodystrophy · White Matter Disease · Leukoencephalopathies · 4H Syndrome·Matched via name phrase
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"Leukoencephalopathy with calcifications and cysts" OR "Labrune syndrome" OR "leukoencephalopathy, brain calcifications, and cysts"
MeSH descriptor terms unioned into the query: Leukoencephalopathy Brain Calcifications and Cysts
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Leukoencephalopathy with calcifications and cysts" OR "Labrune syndrome" OR "leukoencephalopathy, brain calcifications, and cysts" OR "Leukoencephalopathy Brain Calcifications and Cysts" OR "SNORD118"
Recall-expansion terms: SNORD118
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: LCC
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 2026-07-27T18:15:06.035Z