ORPHA:367
Glycogen storage disease due to glycogen branching enzyme deficiency
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
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
681
84.7th percentile
Trials
2
Interventional, condition-specific
Researchers
1,295
Distinct authors in sample
Gene link
GBE1
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009292
- OMIM:232500
- UMLS:C0017923
- NCIT:C84737
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — GBE1
- LiteraturePresent
681 matched papers (299 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
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)
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?
681
681 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.
681 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).
299 in the last 10 years · high confidence · 84.7th percentile (publications denominator)
Phrase hits: 681 · MeSH hits: 0
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.
- 01Kishnani PS10 papers · 2026
Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, 27710, USA.
Papers in Europe PMC - 02Koch RL9 papers · 2026
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.
Papers in Europe PMC - 03Akman 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 - 04Bali DS5 papers · 2023
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Papers in Europe PMC - 05Iwai K5 papers · 2024
Department of Molecular and Cellular Physiology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Papers in Europe PMC - 06Minassian BA5 papers · 2024
Program in Genetics and Genome Biology, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
Papers in Europe PMC - 07Boisson 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 - 08Chen YT4 papers · 2012Papers in Europe PMC
- 09DiMauro S4 papers · 2015
Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Papers in Europe PMC - 10Shin 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 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).
high 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.
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
- NCT02683512·RECRUITING·GBE Deficiency (GSD IV and APBD) Natural History Study
Conditions: Glycogen Storage Disease Type IV · Adult Polyglucosan Body Disease · GSD4 · GSD IV·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 2026-07-26Directly 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"
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" OR "GBE1"
Recall-expansion terms: GBE1
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: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-26T13:35:05.650Z