ORPHA:101
Dentatorubral pallidoluysian atrophy
Also known as: DRPLA · Dentatorubropallidoluysian atrophy · Naito-Oyanagi disease
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
3,572
94.8th percentile
Trials
3
Interventional, condition-specific
Researchers
1,328
Distinct authors in sample
Gene link
ATN1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare subtype of cerebellar type I characterized by involuntary movements, , , mental disorders, cognitive decline and prominent anticipation.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007435
- OMIM:125370
- UMLS:C0751781
- NCIT:C122653
Additional Mondo synonyms (2)
dentatorubral-pallidoluysian atrophy · haw River syndrome
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.
- Gene identifiedPresent
Definitive — ATN1
- LiteraturePresent
3,572 matched papers (1,598 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 trialPresent
3 matched on ClinicalTrials.gov
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 (ATN1).
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?
3,572
3,572 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=5449) is 41.
3,572 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).
1,598 in the last 10 years · high confidence · 94.8th percentile (publications denominator)
Phrase hits: 3,572 · MeSH hits: 0
Who's working on it?
1,328
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.
- 01Kuwabara S8 papers · 2026
Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Papers in Europe PMC - 02Sugiyama A8 papers · 2026
Department of Radiology, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-0031, Japan.
Papers in Europe PMC - 03Onodera O7 papers · 2026
Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
Papers in Europe PMC - 04Takahashi Y7 papers · 2026
Department of Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.
Papers in Europe PMC - 05Houlden H6 papers · 2026
Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK. h.houlden@ucl.ac.uk.
Papers in Europe PMC - 06Ishihara T6 papers · 2026
Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan. ishihara@bri.niigata-u.ac.jp.
Papers in Europe PMC - 07Todi SV6 papers · 2026
Department of Pharmacology, Wayne State University, Detroit, MI, United States.
Papers in Europe PMC - 08Lee S5 papers · 2026
Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.
Papers in Europe PMC - 09
- 10Teive HAG5 papers · 2025
Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, BR.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
high confidence · 85.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
2 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
- NCT05489393·RECRUITING·CureDRPLA Global Patient Registry
Conditions: DRPLA·Matched via name phrase
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.
"Dentatorubral pallidoluysian atrophy" OR "DRPLA" OR "Dentatorubropallidoluysian atrophy" OR "Naito-Oyanagi disease" OR "dentatorubral-pallidoluysian atrophy" OR "haw River syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Dentatorubral pallidoluysian atrophy" OR "DRPLA" OR "Dentatorubropallidoluysian atrophy" OR "Naito-Oyanagi disease" OR "dentatorubral-pallidoluysian atrophy" OR "haw River syndrome" OR "ATN1"
Recall-expansion terms: ATN1
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: 3 interventional · 2 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T12:25:20.698Z