ORPHA:34587
Danon disease
Also known as: GSD due to LAMP-2 deficiency · GSD, type 2B · GSD, type IIb · Glycogen storage disease due to LAMP-2 deficiency · Glycogen storage disease, type 2B · Glycogen storage disease, type IIb · Glycogenosis due to LAMP-2 deficiency · Lysosomal glycogen storage disease with normal acid maltase activity
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,464
Trials
2
Interventional, condition-specific
Researchers
1,271
Distinct authors in sample
Gene link
LAMP2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare X-linked genetic condition due to deficiency of the lysosomal-associated membrane protein 2 (LAMP2) characterized by severe and variable degrees of muscle weakness, frequently associated with intellectual deficits (in males).
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010281
- MeSH:D052120
- OMIM:300257
- UMLS:C0878677
- NCIT:C84735
Additional Mondo synonyms (7)
ANTOPOL disease · Danon disease, X-linked dominant · LAMP2 lysosomal glycogen storage disease · glycogen storage disease type IIb · glycogenosis due to LAMP-2 deficiency · lysosomal glycogen storage disease caused by mutation in LAMP2 · lysosomal glycogen storage disease with normal acid maltase activity
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 — LAMP2
- LiteraturePresent
1,464 matched papers (1,010 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
2 matched on ClinicalTrials.gov (1 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 (LAMP2).
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?
1,464
1,464 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.
1,464 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).
1,010 in the last 10 years · low confidence
Phrase hits: 1,464 · MeSH hits: 0
Who's working on it?
1,271
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.
- 01Adler ED11 papers · 2025
Division of Cardiology, University of California San Diego, San Diego, California
Papers in Europe PMC - 02Wang J10 papers · 2026
Department of Radiology, Affiliated Hospital of Jining Medical University, Jining, China.
Papers in Europe PMC - 03Arad M8 papers · 2023
Division of Cardiology Sheba Medical Centre and Tel Aviv University Ramat Gan Israel.
Papers in Europe PMC - 04Brambatti M8 papers · 2023
Division of Cardiovascular Medicine Department of Medicine University of California, San Diego San Diego CA.
Papers in Europe PMC - 05Chen Y8 papers · 2026
Department of Radiology, Affiliated Hospital of Jining Medical University, Jining, China.
Papers in Europe PMC - 06Taylor MRG8 papers · 2025
Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado
Papers in Europe PMC - 07Hong KN7 papers · 2025
Division of Cardiovascular Medicine Department of Medicine University of California, San Diego San Diego CA.
Papers in Europe PMC - 08Wang Y7 papers · 2026
Heart Center, The First Hospital of Lanzhou University, Lanzhou, Gansu, China.
Papers in Europe PMC - 09Bui QM6 papers · 2025
Division of Cardiovascular Medicine Department of Medicine University of California, San Diego San Diego CA.
Papers in Europe PMC - 10Olivotto I6 papers · 2026
Cardiomyopathy Unit, Careggi University Hospital, 50121 Florence, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
low confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06092034·RECRUITING·A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease
Conditions: Danon Disease·Matched via name phrase
Observational and natural-history studies
5 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
- NCT07336394·RECRUITING·Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
Conditions: Danon Disease · Fabry Disease · Cardiac Amyloidosis · Noonan Syndrome·Matched via name phrase
- NCT06214507·RECRUITING·Danon Disease Natural History Study
Conditions: Danon Disease·Matched via name phrase
- NCT06795152·RECRUITING·Rare Glycogen Storage Diseases Natural History Study
Conditions: Glycogen Storage Disease · GSD Type 0A · GSD Type 0B · GSD VII·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.
"Danon disease" OR "GSD due to LAMP-2 deficiency" OR "GSD, type 2B" OR "GSD, type IIb" OR "Glycogen storage disease due to LAMP-2 deficiency" OR "Glycogen storage disease, type 2B" OR "Glycogen storage disease, type IIb" OR "Glycogenosis due to LAMP-2 deficiency" OR "Lysosomal glycogen storage disease with normal acid maltase activity" OR "ANTOPOL disease" OR "Danon disease, X-linked dominant" OR "LAMP2 lysosomal glycogen storage disease" OR "glycogen storage disease type IIb"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Danon disease" OR "GSD due to LAMP-2 deficiency" OR "GSD, type 2B" OR "GSD, type IIb" OR "Glycogen storage disease due to LAMP-2 deficiency" OR "Glycogen storage disease, type 2B" OR "Glycogen storage disease, type IIb" OR "Glycogenosis due to LAMP-2 deficiency" OR "Lysosomal glycogen storage disease with normal acid maltase activity" OR "ANTOPOL disease" OR "Danon disease, X-linked dominant" OR "LAMP2 lysosomal glycogen storage disease" OR "glycogen storage disease type IIb" OR "LAMP2"
Recall-expansion terms: LAMP2
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: 2 interventional · 5 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: lysosomal glycogen storage disease caused by mutation in LAMP2
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (1464) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T23:42:20.393Z