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ORPHA:464440

Primary dystonia, DYT27 type

low confidenceDisorder

Publications

5,511

Trials

0

Interventional, condition-specific

Researchers

1,139

Distinct authors in sample

Gene link

COL6A3

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is .

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 (4)

COL6A3 dystonic disorder · dystonia 27 · dystonia type 27 · dystonic disorder caused by mutation in COL6A3

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 — COL6A3

  2. LiteraturePresent

    5,511 matched papers (4,461 in last 10 years) Source

  3. Phenotype characterisedPresent

    15 HPO annotations (e.g. Writer's cramp; Limb dystonia; Axial dystonia) 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 (COL6A3).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

15

Associated phenotypes · MONDO:0014627

  • Writer's cramp
  • Limb dystonia
  • Axial dystonia
  • Focal dystonia
  • Action tremor

Showing 5 of 15 — 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?

5,511

5,511 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.

5,511 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).

4,461 in the last 10 years · low confidence

Phrase hits: 145 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,139

Distinct author names in 145 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
    Albanese A5 papers · 2025

    Istituto Clinico Humanitas, Rozzano, Italy; Istituto di Neurologia, Università Cattolica del Sacro Cuore, Milan, Italy.

    Papers in Europe PMC
  2. 02
    Jinnah HA5 papers · 2024

    Department of Human Genetics, Emory University, Atlanta, GA, USA; Department of Neurology, Emory University, Atlanta, GA, USA; Department of Pediatrics, Emory University, Atlanta, GA, USA.

    Papers in Europe PMC
  3. 03
    LeDoux MS5 papers · 2013

    Department of Neurology, University of Tennessee Health Science Center Memphis, Tennessee 38163, USA.

    Papers in Europe PMC
  4. 04
    Berardelli A4 papers · 2022

    Department of Neurology and Psychiatry and Neuromed Institute, Sapienza University of Rome, Viale dell'Università, 30, 00185 Rome, Italy.

    Papers in Europe PMC
  5. 05
    Defazio G4 papers · 2024

    Institute of Neurology, University of Bari, Italy.

    Papers in Europe PMC
  6. 06
    Münchau A4 papers · 2023

    Department of Paediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, 23562, Lübeck, Germany; Department of Neurology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.

    Papers in Europe PMC
  7. 07
    Klein C3 papers · 2022

    Institute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, 23562, Lübeck, Germany.

    Papers in Europe PMC
  8. 08
    Li Y3 papers · 2026

    Department of Neurology, The Second Affiliated Hospital of Soochow University, Suzhou, China.

    Papers in Europe PMC
  9. 09
    Liu M3 papers · 2026

    Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.

    Papers in Europe PMC
  10. 10
    Roze E3 papers · 2023

    From the Departments of Neurology (D.-H.C., E.S.B., M.Y.D., P.D.S., M.W., T.D.B.), Psychiatry and Behavioral Sciences (O.K., W.H.R.), Genome Sciences (H.A.S., E.E.E.), Medicine (F.M.H., L.M.A., W.H.R.), and Pathology (M.O.D.), and Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle; Inserm (A.M., D. Grabli, M.V., O.T., E.R.), U 1127; CNRS (A.M., D. Grabli, M.V., O.T., E.R.), UMR 7225; Sorbonne Université (A.M., D. Grabli, M.V., O.T., E.R.), UPMC Univ Paris 06, UMR S 1127; Institut du Cerveau et de la Moelle Épinière (A.M., D. Grabli, M.V., O.T., E.R.), ICM; Départements de Neurologie (A.M., B.D., D. Grabli, M.V., O.T., E.R.) et de Génétique (C.M.), Hôpital de la Pitié Salpêtrière, AP-HP, Paris, France; the Departments of Neurosciences and Pediatrics (J.R.F.), University of California, San Diego; Rady Childrens Hospital (J.R.F.), San Diego, CA; Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Israel; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP; Centre de Référence Mouvements Anormaux de l'Enfant à l'Adulte (D.D.); Centre des Déficiences Intellectuelles de Causes Rares (C.M.), Paris; Département de Neurologie (M.A., C.T.), Hôpital Civil de Strasbourg; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (M.A., C.T.), Université de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (M.A., C.T.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Phoenix Children's Hospital (S.B.), AZ; CHU de Bordeaux (N.D.-P.), Explorations Fonctionnelles du Système Nerveux; Service de Neuropédiatrie (D. Gras), Hôpital Robert Debré, AP-HP, Paris, France; Department of Child Neurology (K.M.M.), Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA; Johns Hopkins All Children's Hospital (S.W.), St. Petersburg, FL; The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute, S

    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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 8 · after dedupe 8 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 8 · 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 (8)

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 Primary dystonia, DYT27 type — 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.

("Primary dystonia, DYT27 type" OR "COL6A3 dystonic disorder" OR "dystonia 27" OR "dystonia type 27" OR "dystonic disorder caused by mutation in COL6A3") OR ("COL6A3" OR "COL6A3 syndrome" OR "COL6A3-related")

Run this search on Europe PMC

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

"Primary dystonia, DYT27 type" OR "COL6A3 dystonic disorder" OR "dystonia 27" OR "dystonia type 27" OR "dystonic disorder caused by mutation in COL6A3"

Study-type breakdown: 0 interventional · 0 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 (5511) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T16:55:58.607Z