ORPHA:65285
Lhermitte-Duclos disease
Also known as: Dysplastic gangliocytoma of the cerebellum · LDD
Clinical definition (Orphanet)
A rare developmental defect during embryogenesis characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. The tumors can be characterized by the abnormal growth of ganglion cells that regulate activities in the cerebellum.
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.
Is anyone studying this?
933
933 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=183) is 38.
933 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
403 in the last 10 years · low confidence
Is a treatment being tested?
46
trials for this specific condition
46 interventional trials matched this specific condition name; 9 currently recruiting in our sample.
Data as of 26 July 2026
46 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 95.1th percentile).
low confidence · 95.1th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (PTEN).
GenCC classification: Definitive.
Who's working on it?
1,119
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.
- 01Baitamouni S3 papers · 2025
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, 44195, USA.
Papers in Europe PMC - 02Dhamija R3 papers · 2020
Departments of Clinical Genomics (RD), Neurology (RD, ABP), and Radiology (Division of Neuroradiology) (LSH, JMH), Mayo Clinic, Phoenix, AZ; Department of Radiology (Division of Neuroradiology) (SMW), Mayo Clinic, Jacksonville, FL; and Department of Radiology (Division of Neuroradiology) (CPW), Mayo Clinic, Rochester, MN.
Papers in Europe PMC - 03Dhawan A3 papers · 2025
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, 44195, USA.
Papers in Europe PMC - 04Eng C3 papers · 2025
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, 44195, USA.
Papers in Europe PMC - 05Hoxworth JM3 papers · 2020
Division of Neuroradiology, Department of Radiology, Mayo Clinic, Phoenix, AZ.
Papers in Europe PMC - 06Liu D3 papers · 2025
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, 44195, USA.
Papers in Europe PMC - 07Mueller S3 papers · 2025
Department of Neurological Surgery, University of California, San Francisco, California, USA.
Papers in Europe PMC - 08Pfister SM3 papers · 2025
Hopp Children's Cancer Center Heidelberg (KiTZ) and Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany.
Papers in Europe PMC - 09Rudà R3 papers · 2025
Division of Neurology, Castelfranco Veneto and Treviso Hospitals, 31033 Treviso, Italy.
Papers in Europe PMC - 10Yang X3 papers · 2025
Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT 84112, USA.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
46 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07218575·Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations
- NCT07446049·A Single-arm, Open-label, Multicenter, Phase Ib/II Clinical Trial of CVL237 Tablets in Combination With Serplulimab Injection for the Treatment of Advanced Solid Tumors With PTEN Loss or Low Expression
- NCT07109726·A Phase 1/2 Trial of TER-2013 in Patients With Solid Tumors Harboring AKT/PI3K/PTEN Pathway Alterations
- NCT04997993·Leflunomide in Patients With PTEN-Altered Advanced Solid Malignancies and HER2 Negative Breast Cancer
- NCT06712095·Video Capsule Examination in Patients With Lynch Syndrome
- NCT05420064·An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results
- NCT06183736·CVL237 Tablets in the Treatment of Advanced Solid Tumors With PTEN Deficiency
- NCT07486648·Osimertinib Plus Capivasertib in NSCLC With PIK3CA/AKT1/PTEN Alterations Following Prior 1L Osimertinib
- NCT05593497·A Single-Arm Phase II Study of Neoadjuvant Intensified Androgen Deprivation (Leuprolide and Abiraterone Acetate) in Combination With AKT Inhibition (Capivasertib) for High-Risk Localized Prostate Cancer With PTEN Loss
Observational and natural-history studies
17 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
- NCT02573636·The Predictive Value of Coexisting TMPRSS2-ERG Gene Fusion and PTEN Deletion in Prostate Cancer Patients with Biochemical Failure Status Post Salvage or Radical Radiation Therapy
- NCT06805734·Natural History With Focus on Oncological Risk Evaluation in Pediatric Patients With PTEN Pathogenic Variants
- NCT03050268·Familial Investigations of Childhood Cancer Predisposition
- NCT06462430·PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry
- NCT07297134·PTEN and Organ-Specific microRNAs in Metastatic Breast Cancer
- NCT02461446·Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
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 below but are not added to the query string.
"Lhermitte-Duclos disease" OR "Dysplastic gangliocytoma of the cerebellum" OR "dysplastic cerebellar gangliocytoma" OR "dysplastic gangliocytoma of cerebellum"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Lhermitte-Duclos disease" OR "Dysplastic gangliocytoma of the cerebellum" OR "Dysplastic gangliocytoma of cerebellum" OR "dysplastic cerebellar gangliocytoma" OR "PTEN"
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: 46 interventional · 17 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C0391826 NCIT:C8419
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: LDD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (933) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity