ORPHA:363412
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Also known as: HBSL
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
23
35.6th percentile
Trials
0
Interventional, condition-specific
Researchers
164
Distinct authors in sample
Gene link
DARS1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic leukodystrophy characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, , and motor , as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts.
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:0014115
- OMIM:615281
- UMLS:C4755254
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
Definitive — DARS1
- LiteraturePresent
23 matched papers (18 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 (DARS1).
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?
23
23 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.
23 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).
18 in the last 10 years · medium confidence · 35.6th percentile (publications denominator)
Phrase hits: 23 · MeSH hits: 0
Who's working on it?
164
Distinct author names in 23 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.
- 01Fröhlich D3 papers · 2022
Translational Neuroscience Facility & Department of Physiology, School of Medical Sciences, UNSW Sydney, NSW 2052, Australia. Electronic address: d.frohlich@unsw.edu.au.
Papers in Europe PMC - 02Klugmann M3 papers · 2022
Translational Neuroscience Facility & Department of Physiology, School of Medical Sciences, UNSW Sydney, NSW 2052, Australia. Electronic address: m.klugmann@unsw.edu.au.
Papers in Europe PMC - 03Liu M3 papers · 2022
Neurology Department, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, China.
Papers in Europe PMC - 04Blaser S2 papers · 2024
Department of Diagnostic Imaging, Division of Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Papers in Europe PMC - 05Bongers A2 papers · 2020
Biomedical Resources Imaging Laboratory, UNSW Sydney, NSW 2052, Australia. Electronic address: a.bongers@unsw.edu.au.
Papers in Europe PMC - 06Fox PL2 papers · 2024
Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA. foxp@ccf.org.
Papers in Europe PMC - 07Gogonea V2 papers · 2024
Department of Chemistry, Cleveland State University, Cleveland, OH, USA.
Papers in Europe PMC - 08Housley GD2 papers · 2020
Translational Neuroscience Facility & Department of Physiology, School of Medical Sciences, UNSW Sydney, NSW 2052, Australia. Electronic address: g.housley@unsw.edu.au.
Papers in Europe PMC - 09Khan K2 papers · 2024
Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA.
Papers in Europe PMC - 10Ran N2 papers · 2022
Neurology Department, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, 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).
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.
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.
"Hypomyelination with brain stem and spinal cord involvement and leg spasticity"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hypomyelination with brain stem and spinal cord involvement and leg spasticity" OR "DARS1"
Recall-expansion terms: DARS1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HBSL
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 2026-07-27T14:34:09.565Z