RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:411602

Hereditary late-onset Parkinson disease

low confidenceDisorder

Also known as: Autosomal dominant late-onset Parkinson disease · LOPD

Publications

22,618

Trials

0

Interventional, condition-specific

Researchers

845

Distinct authors in sample

Gene link

GBA1, MAPT

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (10)

PARK · PD · Parkinson disease, age of onset, modifier, Multifactorial · Parkinson disease, late-onset · Parkinson disease, late-onset, susceptibility to, Multifactorial · Parkinson disease, susceptibility to, Multifactorial · autosomal dominant late-onset Parkinson disease · hereditary late onset Parkinson disease · hereditary late-onset Parkinson disease · late-onset Parkinson 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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — GBA1, MAPT

  2. LiteraturePresent

    22,618 matched papers (17,118 in last 10 years) Source

  3. Phenotype characterisedPresent

    194 HPO annotations (e.g. Parkinsonism; Rigidity; Postural instability) Source

  4. Animal modelPresent

    74 genotype models (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 trialPartial

    None under the specific name; 2106 for broader category Parkinson disease

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 (GBA1, MAPT).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

194

Associated phenotypes · MONDO:0008199

  • Parkinsonism
  • Rigidity
  • Postural instability
  • Tremor
  • Dementia

Showing 5 of 194 — open Monarch for the full list.

Animal models (Monarch / Alliance)

74

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?

22,618

22,618 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.

22,618 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).

17,118 in the last 10 years · low confidence

Phrase hits: 121 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

845

Distinct author names in 121 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
    West AB7 papers · 2017

    From the Center for Neurodegeneration and Experimental Therapeutics, Department of Neurology and abwest@uab.edu.

    Papers in Europe PMC
  2. 02
    Ross OA4 papers · 2026

    Department of Neuroscience, Mayo Clinic, Jacksonville, FL.

    Papers in Europe PMC
  3. 03
    Wszolek ZK4 papers · 2011
    Papers in Europe PMC
  4. 04
    Alcalay RN3 papers · 2020

    From the Center for Neurodegeneration and Experimental Therapeutics (K.B.F., M.S.M., A.B.W.), Department of Neurology, University of Alabama at Birmingham; and Department of Neurology (R.N.A.), Columbia University, New York, NY.

    Papers in Europe PMC
  5. 05
    Fahn S3 papers · 2020

    Department of Human Genetics (U.R., L.K., G.A.R, Z.G.-O.), McGill University, Montréal; Montreal Neurological Institute (U.R., J.A.R., L.K., S.B.L., D.S., G.A.R., E.A.F.Z.G.-O.), McGill University; Department of Neurology and Neurosurgery (J.A.R., S.B.L., D.S., G.A.R., E.A.F., Z.G.-O.), McGill University, Montréal, Québec, Canada; The Danek Gertner Institute of Human Genetics, Sheba Medical Center (L.G.); The Joseph Sagol Neuroscience Center (L.G., S.H.-B.), Sheba Medical Center, Tel Hashomer, Ramat Gan; Sackler School of Medicine (L.G., G.Y., S.H.-B.), Tel-Aviv University; Department of Neurology (G.Y., S.H.-B.), Sheba Medical Center; Movement Disorders Institute (G.Y., S.H.-B.), Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel; Centre d'Études Avancées en Médecine du Sommeil (A.D., J.Y.M.), Hôpital du Sacré-Cœur de Montréal; Department of Neurosciences (A.D.), Université de Montréal; Department of Psychiatry (J.Y.M.), Université de Montréal, Québec, Canada; Department of Neurology (S.F., C.H.W., O.L., C.M.K., S.N., R.N.A.), College of Physicians and Surgeons, Columbia University Medical Center, New York; Department of Neurology (Y.D.), National Reference Center for Narcolepsy, Sleep Unit, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm, France; Division of Neurosciences (N.D.), CHU de Québec, Université Laval; Department of Medicine (N.D.), Faculty of Medicine, Université Laval, Québec City, Canada; and Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.N.A.), College of Physicians and Surgeons, Columbia University Medical Center, New York.

    Papers in Europe PMC
  6. 06
    Fon EA3 papers · 2020

    The Ottawa Hospital, University of Ottawa Brain and Mind Research Institute (Grimes, Fitzpatrick, Schlossmacher, Mestre), Ottawa, Ont.; Parkinson Canada (Gordon), Toronto, Ont.; University of Alberta Hospital (Miyasaki), Edmonton, Alta.; Montreal Neurological Institute (Fon), McGill University, Montréal, Que.; University of Alberta (Suchowersky), Edmonton, Alta.; Royal University Hospital (Rajput), University of Saskatchewan, Saskatoon, Sask.; Montreal General Hospital (Lafontaine, Postuma), McGill University, Montréal, Que.; Pacific Parkinson's Research Centre, Djavad Mowafaghian Centre for Brain Health (Appel-Cresswell), University of British Columbia, Vancouver, BC; Toronto Western Hospital (Kalia, Zurowski, Fox), University of Toronto, Toronto, Ont.; Dalhousie University (Schoffer), Halifax, NS; University of Manitoba Rady Faculty of Health Sciences (Udow), Winnipeg, Man.; Knowledge Synthesis Group (Barbeau, Hutton), Ottawa Hospital Research Institute, Ottawa, Ont.

    Papers in Europe PMC
  7. 07
    Guo JF3 papers · 2013

    Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.

    Papers in Europe PMC
  8. 08
    Liu Z3 papers · 2017

    From the Center for Neurodegeneration and Experimental Therapeutics, Department of Neurology and Center for Biophysical Sciences and Engineering, Department of Optometry, The University of Alabama at Birmingham, Birmingham, Alabama 35294 and.

    Papers in Europe PMC
  9. 09
    Moehle MS3 papers · 2016

    From the Center for Neurodegeneration and Experimental Therapeutics, Department of Neurology and.

    Papers in Europe PMC
  10. 10
    Rajput A3 papers · 2019

    The Ottawa Hospital, University of Ottawa Brain and Mind Research Institute (Grimes, Fitzpatrick, Schlossmacher, Mestre), Ottawa, Ont.; Parkinson Canada (Gordon), Toronto, Ont.; University of Alberta Hospital (Miyasaki), Edmonton, Alta.; Montreal Neurological Institute (Fon), McGill University, Montréal, Que.; University of Alberta (Suchowersky), Edmonton, Alta.; Royal University Hospital (Rajput), University of Saskatchewan, Saskatoon, Sask.; Montreal General Hospital (Lafontaine, Postuma), McGill University, Montréal, Que.; Pacific Parkinson's Research Centre, Djavad Mowafaghian Centre for Brain Health (Appel-Cresswell), University of British Columbia, Vancouver, BC; Toronto Western Hospital (Kalia, Zurowski, Fox), University of Toronto, Toronto, Ont.; Dalhousie University (Schoffer), Halifax, NS; University of Manitoba Rady Faculty of Health Sciences (Udow), Winnipeg, Man.; Knowledge Synthesis Group (Barbeau, Hutton), Ottawa Hospital Research Institute, Ottawa, Ont.

    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). 2,106 trials are registered for Parkinson disease, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

2,106 interventional trials matched Parkinson disease, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: Parkinson disease

2,106

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

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 25 · after dedupe 25 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 25 · 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 (25)

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 Hereditary late-onset Parkinson disease — 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.

("Hereditary late-onset Parkinson disease" OR "Autosomal dominant late-onset Parkinson disease" OR "Parkinson disease, age of onset, modifier, Multifactorial" OR "Parkinson disease, age of the onset, modifier, Multifactorial" OR "Parkinson disease, late-onset" OR "Parkinson disease, late-onset, susceptibility to, Multifactorial" OR "Parkinson disease, susceptibility to, Multifactorial" OR "hereditary late onset Parkinson disease" OR "late-onset Parkinson disease") OR ("GBA1" OR "GBA1 syndrome" OR "GBA1-related" OR "MAPT" OR "MAPT syndrome" OR "MAPT-related")

Run this search on Europe PMC

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

"Hereditary late-onset Parkinson disease" OR "Autosomal dominant late-onset Parkinson disease" OR "Parkinson disease, age of onset, modifier, Multifactorial" OR "Parkinson disease, age of the onset, modifier, Multifactorial" OR "Parkinson disease, late-onset" OR "Parkinson disease, late-onset, susceptibility to, Multifactorial" OR "Parkinson disease, susceptibility to, Multifactorial" OR "hereditary late onset Parkinson disease" OR "late-onset Parkinson disease"

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

Parent-category trials query:

"Parkinson disease"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: LOPD; PARK; PD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 3 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (22618) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T15:41:19.129Z