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ORPHA:399

Huntington disease

low confidenceDisorder

Also known as: Huntington chorea

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

Publications

51,891

Trials

212

Interventional, condition-specific

Researchers

1,279

Distinct authors in sample

Gene link

HTT

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

HD · Huntington's Disease · Huntington's chorea · Huntington's 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

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

  1. Gene identifiedPresent

    Definitive — HTT

  2. LiteraturePresent

    51,891 matched papers (22,186 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    212 matched on ClinicalTrials.gov (31 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 (HTT).

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?

51,891

51,891 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=5449) is 41.

51,891 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).

22,186 in the last 10 years · low confidence

Phrase hits: 51,891 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,279

Distinct author names in 200 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
    Bachoud-Lévi AC5 papers · 2026

    Département d'Etudes Cognitives, École normale supérieure, PSL University, 75005 Paris, France; University Paris Est Creteil, INSERM U955, Institut Mondor de Recherche Biomédicale, Equipe NeuroPsychologie Interventionnelle, F-94010 Creteil, France; AP-HP, Hôpital Henri Mondor-Albert Chenevier, Centre de référence Maladie de Huntington, Service de Neurologie, F-94010 Créteil, France. Electronic address: anne-catherine.bachoud-levi@aphp.fr.

    Papers in Europe PMC
  2. 02
    Tabrizi SJ5 papers · 2026

    UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, UK Dementia Research Institute, Department of Neurodegenerative Diseases, University College London, London, UK.

    Papers in Europe PMC
  3. 03
    Georgiou-Karistianis N4 papers · 2026

    Turner Institute of Brain and Mental Health at the School of Psychological Sciences, and Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria, Australia.

    Papers in Europe PMC
  4. 04
    Hayden MR4 papers · 2026

    Prilenia Therapeutics B.V., Naarden, The Netherlands.

    Papers in Europe PMC
  5. 05
    Khan S4 papers · 2026

    General Medicine Practice Program, Batterjee Medical College, Jeddah, Saudi Arabia.

    Papers in Europe PMC
  6. 06
    Sharma V4 papers · 2026

    Chitkara College of Pharmacy, Chitkara University, Rajpura, Punjab, 140401, India.

    Papers in Europe PMC
  7. 07
    Simpson J4 papers · 2026

    Division of Health Research, Faculty of Health and Medicine, Lancaster University, Lancaster, UK.

    Papers in Europe PMC
  8. 08
    Bagga K3 papers · 2026

    Neurosciences, UC San Diego, San Diego, California, USA.

    Papers in Europe PMC
  9. 09
    Corey-Bloom J3 papers · 2026

    Neurosciences, UC San Diego, San Diego, California, USA.

    Papers in Europe PMC
  10. 10
    Dale M3 papers · 2026

    Leicestershire Partnership NHS Trust, Mill Lodge, Narborough, Leicestershire, UK.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

212

interventional trials for this specific condition

212 interventional trials matched this specific condition name; 31 currently recruiting in our sample.

Data as of 27 July 2026

212 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 99.3th percentile).

low confidence · 99.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

212 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

79 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

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 2026-07-26

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.

"Huntington disease" OR "Huntington chorea" OR "Huntington's Disease" OR "Huntington's chorea"

Run this search on Europe PMC

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

"Huntington disease" OR "Huntington chorea" OR "Huntington's Disease" OR "Huntington's chorea" OR "HTT"

Recall-expansion terms: HTT

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 212 interventional · 79 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: HD

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:43:17.431Z