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ORPHA:137898

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

low confidenceDisorder

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

Publications

839

Trials

1

Interventional, condition-specific

Researchers

507

Distinct authors in sample

Gene link

DARS2

Definitive

Readiness

4/6

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — DARS2

  2. LiteraturePresent

    839 matched papers (653 in last 10 years) Source

  3. Phenotype characterisedPresent

    65 HPO annotations (e.g. Dysarthria; Cognitive impairment; Skeletal muscle atrophy) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

65

Associated phenotypes · MONDO:0012622

  • Dysarthria
  • Cognitive impairment
  • Skeletal muscle atrophy
  • Hyporeflexia
  • Babinski sign

Showing 5 of 65 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

839

839 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

839 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

653 in the last 10 years · low confidence

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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome — check Associations / patient organisations on that page.

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") OR (MESH:"Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation") OR ("DARS2" OR "DARS2 syndrome" OR "DARS2-related")

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"

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; 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
  • Publication count (839) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T07:31:44.040Z