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ORPHA:397725

COASY protein-associated neurodegeneration

low confidenceDisorder

Also known as: CoPAN · NBIA6 · Neurodegeneration with brain iron accumulation due to COASY mutation

Publications

9,560

Trials

0

Interventional, condition-specific

Researchers

1,381

Distinct authors in sample

Gene link

COASY

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal , cognitive impairment, complex motor tics, and obsessive-compulsive disorder.

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 (5)

COASY neurodegeneration with brain iron accumulation · neurodegeneration with brain iron accumulation 6 · neurodegeneration with brain iron accumulation caused by mutation in COASY · neurodegeneration with brain iron accumulation due to COASY mutation · neurodegeneration with brain iron accumulation type 6

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

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — COASY

  2. LiteraturePresent

    9,560 matched papers (7,208 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Eye of the tiger anomaly of globus pallidus; Compulsive behaviors; Dysarthria) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  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 (COASY).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

38

Associated phenotypes · MONDO:0014290

  • Eye of the tiger anomaly of globus pallidus
  • Compulsive behaviors
  • Dysarthria
  • Spastic paraparesis
  • Abnormal caudate nucleus morphology

Showing 5 of 38 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

9,560

9,560 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

9,560 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).

7,208 in the last 10 years · low confidence

Phrase hits: 7,990 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,381

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
    Dominguez RL7 papers · 2026

    Department of Medicine, Western Regional Hospital, Santa Rosa de Copan, Honduras.

    Papers in Europe PMC
  2. 02
    Morgan DR7 papers · 2026

    Division of Gastroenterology and Hepatology, Department of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.

    Papers in Europe PMC
  3. 03
    Norwood DA7 papers · 2026

    Division of General Internal Medicine and Population Science, Department of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.

    Papers in Europe PMC
  4. 04
    Di Meo I6 papers · 2026

    Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.

    Papers in Europe PMC
  5. 05
    Montalvan-Sanchez EE6 papers · 2026

    Department of Medicine, Section of Digestive Diseases, Yale School of Medicine, New Haven, CT, USA.

    Papers in Europe PMC
  6. 06
    Tiranti V6 papers · 2026

    Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.

    Papers in Europe PMC
  7. 07
    Cangelosi GA5 papers · 2026

    Department of Environmental and Occupational Health Sciences, School of Public Health, University of Washington, Seattle, WA, USA.

    Papers in Europe PMC
  8. 08
    Cavestro C5 papers · 2026

    Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.

    Papers in Europe PMC
  9. 09
    Hayflick SJ5 papers · 2025

    Departments of Molecular and Medical Genetics, Pediatrics, and Neurology, Oregon Health & Science University, Portland, OR, USA.

    Papers in Europe PMC
  10. 10
    Cherkaoui A4 papers · 2026

    Bacteriology Laboratory, Division of Laboratory Medicine, Department of Diagnostics, Geneva University Hospitals, Geneva, Switzerland.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

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

1 observational study matches 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

  • NCT05522374·RECRUITING·TIRCON International NBIA Registry

    Conditions: Neurodegeneration With Brain Iron Accumulation (NBIA) · Pantothenate Kinase-associated Neurodegeneration (PKAN) · Beta-Propeller Protein-Associated Neurodegeneration (BPAN) · Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN)·Matched via name phrase

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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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).

Uncertain / not reviewed (5)

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 COASY protein-associated neurodegeneration — 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.

("COASY protein-associated neurodegeneration" OR "CoPAN" OR "NBIA6" OR "Neurodegeneration with brain iron accumulation due to COASY mutation" OR "COASY neurodegeneration with brain iron accumulation" OR "neurodegeneration with brain iron accumulation 6" OR "neurodegeneration with brain iron accumulation caused by mutation in COASY" OR "neurodegeneration with brain iron accumulation type 6") OR ("COASY" OR "COASY syndrome" OR "COASY-related")

Run this search on Europe PMC

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

"COASY protein-associated neurodegeneration" OR "CoPAN" OR "NBIA6" OR "Neurodegeneration with brain iron accumulation due to COASY mutation" OR "COASY neurodegeneration with brain iron accumulation" OR "neurodegeneration with brain iron accumulation 6" OR "neurodegeneration with brain iron accumulation caused by mutation in COASY" OR "neurodegeneration with brain iron accumulation type 6"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (9560) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T15:12:55.539Z