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ORPHA:59306

McLeod neuroacanthocytosis syndrome

low confidenceDisorder

Also known as: MLS · X-linked McLeod syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

899

Trials

0

Interventional, condition-specific

Researchers

997

Distinct authors in sample

Gene link

XK

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

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 (2)

McLeod syndrome · XK disease

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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — XK

  2. LiteraturePresent

    899 matched papers (516 in last 10 years) Source

  3. Phenotype characterisedPresent

    29 HPO annotations (e.g. Elevated circulating creatine kinase activity; Personality disorder; Anxiety) 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 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 (XK).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

29

Associated phenotypes · MONDO:0018945

  • Elevated circulating creatine kinase activity
  • Personality disorder
  • Anxiety
  • Motor axonal neuropathy
  • Dilated cardiomyopathy

Showing 5 of 29 — 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?

899

899 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.

899 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).

516 in the last 10 years · low confidence

Phrase hits: 571 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

997

Distinct author names in 200 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.

  1. 01
    Danek A32 papers · 2026

    Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität Marchioninistr. 15 D-81366 Munich, Germany. danek@lmu.de

    Papers in Europe PMC
  2. 02
    Walker RH27 papers · 2026

    Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA ; Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA.

    Papers in Europe PMC
  3. 03
    Jung HH26 papers · 2025

    Department of Neurology, University Hospital Zurich, Zurich, Switzerland.

    Papers in Europe PMC
  4. 04
    Peikert K16 papers · 2026

    Division for Neurodegenerative Diseases, Department of Neurology, Technische Universität Dresden, 01307 Dresden, Germany.

    Papers in Europe PMC
  5. 05
    Hermann A12 papers · 2026

    Division for Neurodegenerative Diseases, Department of Neurology, Technische Universität Dresden, 01307 Dresden, Germany; DZNE, German Centre for Neurodegenerative Diseases, Research Site Dresden, 01307 Dresden, Germany. Electronic address: andreas.hermann@uniklinikum-dresden.de.

    Papers in Europe PMC
  6. 06
    Frey BM10 papers · 2025

    Blood Transfusion Service SRK, 8952 Schlieren, Zurich, Switzerland. Electronic address: bm.frey@zhbsd.ch.

    Papers in Europe PMC
  7. 07
    Kaestner L7 papers · 2026

    Experimental Physics, Saarland University, 66123 Saarbruecken, Germany.

    Papers in Europe PMC
  8. 08
    De Camilli P5 papers · 2023

    Department of Neuroscience, Howard Hughes Medical Institute, Program in Cellular Neuroscience, Neurodegeneration and Repair, Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, USA; Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA. Electronic address: pietro.decamilli@yale.edu.

    Papers in Europe PMC
  9. 09
    Gassner C5 papers · 2022

    Blood Transfusion Service SRK, 8952 Schlieren, Zurich, Switzerland.

    Papers in Europe PMC
  10. 10
    Miranda M5 papers · 2024

    Department of Neurology, Clinica Las Condes, Santiago, Chile.

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

Broader category neuroacanthocytosis also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: neuroacanthocytosis

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 2026-07-29

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 McLeod neuroacanthocytosis 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.

("McLeod neuroacanthocytosis syndrome" OR "X-linked McLeod syndrome" OR "McLeod syndrome" OR "XK disease") OR (MESH:"Neuroacanthocytosis, Mcleod Type") OR ("XK syndrome" OR "XK-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Neuroacanthocytosis, Mcleod Type

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

"McLeod neuroacanthocytosis syndrome" OR "X-linked McLeod syndrome" OR "McLeod syndrome" OR "XK disease" OR "Neuroacanthocytosis, Mcleod Type"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"neuroacanthocytosis"

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MLS

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

Ingested 2026-07-27T01:01:22.506Z