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ORPHA:34587

Danon disease

low confidenceDisorder

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

Publications

11,891

Trials

2

Interventional, condition-specific

Researchers

1,271

Distinct authors in sample

Gene link

LAMP2

Definitive

Readiness

6/6

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.

Orphanet entry

Cross-references

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

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — LAMP2

  2. LiteraturePresent

    11,891 matched papers (8,931 in last 10 years) Source

  3. Phenotype characterisedPresent

    37 HPO annotations (e.g. Severely reduced left ventricular ejection fraction; Dilated cardiomyopathy; Myocardial fibrosis) Source

  4. Animal modelPresent

    5 genotype models (Rattus norvegicus, Danio rerio, Mus musculus) Source

  5. Orphan designationPartial

    2 EMA designations (none yet with FDA orphan-indication approval) — e.g. adeno-associated viral vector serotype 2i8 containing the human LAMP2 isoform B transgene Source

  6. 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)

37

Associated phenotypes · MONDO:0010281

  • Severely reduced left ventricular ejection fraction
  • Dilated cardiomyopathy
  • Myocardial fibrosis
  • Cardiomegaly
  • Wolff-Parkinson-White syndrome

Showing 5 of 37 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

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)

2

Designations · no FDA orphan-indication approval yet

  • EMA adeno-associated viral vector serotype 2i8 containing the human LAMP2 isoform B transgeneTreatment of Danon disease · 22/05/2025 · PositiveEMA designation
  • EMA adeno-associated virus serotype 9 vector containing the human LAMP2 isoform B transgeneTreatment of Danon disease · 16/08/2023 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

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?

11,891

11,891 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=3967) is 59.

11,891 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).

8,931 in the last 10 years · low confidence

Phrase hits: 1,464 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Adler ED11 papers · 2025

    Division of Cardiology, University of California San Diego, San Diego, California

    Papers in Europe PMC
  2. 02
    Wang J10 papers · 2026

    Department of Radiology, Affiliated Hospital of Jining Medical University, Jining, China.

    Papers in Europe PMC
  3. 03
    Arad M8 papers · 2023

    Division of Cardiology Sheba Medical Centre and Tel Aviv University Ramat Gan Israel.

    Papers in Europe PMC
  4. 04
    Brambatti M8 papers · 2023

    Division of Cardiovascular Medicine Department of Medicine University of California, San Diego San Diego CA.

    Papers in Europe PMC
  5. 05
    Chen Y8 papers · 2026

    Department of Radiology, Affiliated Hospital of Jining Medical University, Jining, China.

    Papers in Europe PMC
  6. 06
    Taylor MRG8 papers · 2025

    Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado

    Papers in Europe PMC
  7. 07
    Hong KN7 papers · 2025

    Division of Cardiovascular Medicine Department of Medicine University of California, San Diego San Diego CA.

    Papers in Europe PMC
  8. 08
    Wang Y7 papers · 2026

    Heart Center, The First Hospital of Lanzhou University, Lanzhou, Gansu, China.

    Papers in Europe PMC
  9. 09
    Bui QM6 papers · 2025

    Division of Cardiovascular Medicine Department of Medicine University of California, San Diego San Diego CA.

    Papers in Europe PMC
  10. 10
    Olivotto 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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th 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.

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

Open the complete matched search on ClinicalTrials.gov

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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-29

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 (3)

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 Danon 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.

("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" OR "LAMP2 syndrome" OR "LAMP2-related")

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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 (11891) 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