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ORPHA:367

Glycogen storage disease due to glycogen branching enzyme deficiency

low confidenceDisorder

Also known as: Amylopectinosis · Andersen disease · GSD due to glycogen branching enzyme deficiency · GSD type 4 · GSD type IV · Glycogen storage disease type 4 · Glycogen storage disease type IV · Glycogenosis due to glycogen branching enzyme deficiency · Glycogenosis type 4 · Glycogenosis type IV

Publications

1,878

Trials

2

Interventional, condition-specific

Researchers

1,295

Distinct authors in sample

Gene link

GBE1

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of glycogen storage disease characterized by a continuum of clinical manifestations of variable presentation and severity, involving hepatic, neuromuscular and/or cardiac symptoms.

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 (11)

Andersen Disease (GSD IV) · Andersen's disease · GBE1 glycogen storage disease · amylopectinosis · glycogen storage disease caused by mutation in GBE1 · glycogen storage disease due to glycogen branching enzyme deficiency · glycogen storage disease type 4 · glycogen storage disease type IV · glycogenosis due to glycogen branching enzyme deficiency · glycogenosis type 4 · glycogenosis type IV

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 — GBE1

  2. LiteraturePresent

    1,878 matched papers (1,228 in last 10 years) Source

  3. Phenotype characterisedPresent

    86 HPO annotations (e.g. Limitation of joint mobility; Abnormality of extrapyramidal motor function; Distal sensory impairment) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. N-(2-Methoxyethyl)-6-methyl-N-[(3-methyl-2-thienyl)methyl]-2-oxo-1,2-dihydropyridine-4-carboxamide Source

  6. Interventional trialPresent

    2 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 (GBE1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

86

Associated phenotypes · MONDO:0009292

  • Limitation of joint mobility
  • Abnormality of extrapyramidal motor function
  • Distal sensory impairment
  • Dementia
  • Intellectual disability

Showing 5 of 86 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA N-(2-Methoxyethyl)-6-methyl-N-[(3-methyl-2-thienyl)methyl]-2-oxo-1,2-dihydropyridine-4-carboxamideTreatment of glycogen storage disease type IV · 16/01/2025 · 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?

1,878

1,878 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=3967) is 59.

1,878 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).

1,228 in the last 10 years · low confidence

Phrase hits: 681 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,295

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
    Kishnani PS10 papers · 2026

    Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, 27710, USA.

    Papers in Europe PMC
  2. 02
    Koch RL9 papers · 2026

    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.

    Papers in Europe PMC
  3. 03
    Akman HO7 papers · 2026

    Columbia University Medical Center Department of Neurology, Houston Merritt Neuromuscular diseases research center, New York, New York, USA.

    Papers in Europe PMC
  4. 04
    Bali DS5 papers · 2023

    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

    Papers in Europe PMC
  5. 05
    Iwai K5 papers · 2024

    Department of Molecular and Cellular Physiology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

    Papers in Europe PMC
  6. 06
    Minassian BA5 papers · 2024

    Program in Genetics and Genome Biology, The Hospital for Sick Children, University of Toronto, Toronto, Canada.

    Papers in Europe PMC
  7. 07
    Boisson B4 papers · 2025

    St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York, USA.

    Papers in Europe PMC
  8. 08
    Chen YT4 papers · 2012
    Papers in Europe PMC
  9. 09
    DiMauro S4 papers · 2015

    Department of Neurology, Columbia University Medical Center, New York, NY, USA.

    Papers in Europe PMC
  10. 10
    Shin YS4 papers · 2018

    University Childrens' Hospital and Molecular Genetics and Metabolism Laboratory, Munich, Germany. yoon.shin@gmx.de

    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; none in our sample are currently recruiting.

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.

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

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 7 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · 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 (7)

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 Glycogen storage disease due to glycogen branching enzyme deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 1.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

("Glycogen storage disease due to glycogen branching enzyme deficiency" OR "Amylopectinosis" OR "Andersen disease" OR "GSD due to glycogen branching enzyme deficiency" OR "GSD type 4" OR "GSD type IV" OR "Glycogen storage disease type 4" OR "Glycogen storage disease type IV" OR "Glycogenosis due to glycogen branching enzyme deficiency" OR "Glycogenosis type 4" OR "Glycogenosis type IV" OR "Andersen Disease (GSD IV)" OR "Andersen's disease" OR "GBE1 glycogen storage disease") OR ("GBE1" OR "GBE1 syndrome" OR "GBE1-related")

Run this search on Europe PMC

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

"Glycogen storage disease due to glycogen branching enzyme deficiency" OR "Amylopectinosis" OR "Andersen disease" OR "GSD due to glycogen branching enzyme deficiency" OR "GSD type 4" OR "GSD type IV" OR "Glycogen storage disease type 4" OR "Glycogen storage disease type IV" OR "Glycogenosis due to glycogen branching enzyme deficiency" OR "Glycogenosis type 4" OR "Glycogenosis type IV" OR "Andersen Disease (GSD IV)" OR "Andersen's disease" OR "GBE1 glycogen storage disease"

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 · 2 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: glycogen storage disease caused by mutation in GBE1

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1878) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:35:05.650Z