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ORPHA:137898

Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

medium confidenceDisorder

Also known as: LBSL · Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome

Publications

73

51.6th percentile

Trials

1

Interventional, condition-specific

Researchers

507

Distinct authors in sample

Gene link

DARS2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

This disease is characterised by cerebellar with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.

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 (3)

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation · leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome · leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome

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.

  1. Gene identifiedPresent

    Definitive — DARS2

  2. LiteraturePresent

    73 matched papers (45 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. 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 (DARS2).

GenCC classification: Definitive.

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?

73

73 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.

73 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).

45 in the last 10 years · medium confidence · 51.6th percentile (publications denominator)

Phrase hits: 70 · MeSH hits: 4

Open Europe PMC search

Who's working on it?

507

Distinct author names in 73 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.

  1. 01
    van der Knaap MS9 papers · 2022

    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.

    Papers in Europe PMC
  2. 02
    Vanderver A5 papers · 2022

    Department of Neurology, Children's National Health System, Washington, DC, USA.

    Papers in Europe PMC
  3. 03
    Fine AS4 papers · 2023

    Moser Center for Leukodystrophies, Kennedy Krieger Institute, USA; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.

    Papers in Europe PMC
  4. 04
    Florentz C4 papers · 2015

    Architecture et Réactivité de l'ARN, CNRS, University of Strasbourg, IBMC, Strasbourg, France.

    Papers in Europe PMC
  5. 05
    Helman G4 papers · 2022

    Department of Neurology, Children's National Health System, Washington, DC, USA.

    Papers in Europe PMC
  6. 06
    Scheper GC4 papers · 2013

    Department of Pediatrics and Child Neurology, Vrije University Medical Center, 1081 HV Amsterdam, The Netherlands. gc.scheper@vumc.nl

    Papers in Europe PMC
  7. 07
    Simons C4 papers · 2022

    Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.

    Papers in Europe PMC
  8. 08
    Sissler M4 papers · 2015

    Architecture et Réactivité de l'ARN, CNRS, University of Strasbourg, IBMC, Strasbourg, France.

    Papers in Europe PMC
  9. 09
    Antonellis A3 papers · 2017

    Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

    Papers in Europe PMC
  10. 10
    Bernard G3 papers · 2025

    Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

    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.

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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome" OR "Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome" OR "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

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

"Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome" OR "Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome" OR "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation" OR "Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation" OR "DARS2"

Recall-expansion terms: DARS2

Interventional trials matched via: mesh (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, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: LBSL

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 2026-07-27T07:31:44.040Z