ORPHA:366
Glycogen storage disease due to glycogen debranching enzyme deficiency
Also known as: Amylo-1,6-glucosidase deficiency · Cori disease · Cori-Forbes disease · Forbes disease · GDE deficiency · GSD due to glycogen debranching enzyme deficiency · GSD type 3 · GSDIII · Glycogen storage disease type 3 · Glycogen storage disease type III · Glycogenosis due to glycogen debranching enzyme deficiency · Glycogenosis type 3 · Glycogenosis type III · Limit dextrinosis
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
871
86.5th percentile
Trials
4
Interventional, condition-specific
Researchers
1,276
Distinct authors in sample
Gene link
AGL
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare inborn error of metabolism disease characterized by variable liver, skeletal muscle and cardiac involvement, usually presenting in early childhood.
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:0009291
- MeSH:D006010
- OMIM:232400
- UMLS:C0017922
- NCIT:C84736
Additional Mondo synonyms (10)
AGL glycogen storage disease · amylo-1,6-glucosidase deficiency · glycogen storage disease III · glycogen storage disease caused by mutation in AGL · glycogen storage disease type 3 · glycogen storage disease type III · glycogenosis due to glycogen debranching enzyme deficiency · glycogenosis type 3 · glycogenosis type III · limit dextrinosis
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 — AGL
- LiteraturePresent
871 matched papers (345 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
4 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 (AGL).
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?
871
871 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.
871 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).
345 in the last 10 years · high confidence · 86.5th percentile (publications denominator)
Phrase hits: 871 · MeSH hits: 0
Who's working on it?
1,276
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.
- 01
- 02Laforêt P11 papers · 2026
Neurology Unit, Raymond Poincaré Hospital, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Papers in Europe PMC - 03Labrune P10 papers · 2026
APHP, Hôpitaux Universitaires Paris Sud, hôpital Antoine Béclère, Centre de Référence des Maladies héréditaires du Métabolisme Hépatique, and Paris Sud University, Clamart, France.
Papers in Europe PMC - 04Malfatti E9 papers · 2026
Université Paris Est, U955, IMRB, INSERM, APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, 94000 Créteil, France.
Papers in Europe PMC - 05Jauze L8 papers · 2026
INTEGRARE, Genethon, Inserm, Univ Evry, Université Paris-Saclay, 91002 Evry, France; Genethon, 91002 Evry, France.
Papers in Europe PMC - 06Derks TGJ7 papers · 2025
Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center of Groningen, Groningen, The Netherlands.
Papers in Europe PMC - 07Kishnani PS7 papers · 2022
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. priya.kishnani@duke.edu.
Papers in Europe PMC - 08Petit F7 papers · 2026
Laboratoire de génétique moléculaire, Service d'histologie-embryologie-cytogénétique, Hôpital Antoine Béclère, GH Paris-Sud, AP-HP, Paris, France.
Papers in Europe PMC - 09Comi GP6 papers · 2019
Department of Pathophysiology and Transplantation, University of Milan, and Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
4
interventional trials for this specific condition
4 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).
high confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
4 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
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
- NCT06616545·RECRUITING·French Observatory for Patients with Type 3 Glycogenosis
Conditions: Glycogen Storage Disease Type III·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 debranching enzyme deficiency" OR "Amylo-1,6-glucosidase deficiency" OR "Cori disease" OR "Cori-Forbes disease" OR "Forbes disease" OR "GDE deficiency" OR "GSD due to glycogen debranching enzyme deficiency" OR "GSD type 3" OR "GSDIII" OR "Glycogen storage disease type 3" OR "Glycogen storage disease type III" OR "Glycogenosis due to glycogen debranching enzyme deficiency" OR "Glycogenosis type 3" OR "Glycogenosis type III" OR "Limit dextrinosis" OR "AGL glycogen storage disease" OR "glycogen storage disease III"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Glycogen storage disease due to glycogen debranching enzyme deficiency" OR "Amylo-1,6-glucosidase deficiency" OR "Cori disease" OR "Cori-Forbes disease" OR "Forbes disease" OR "GDE deficiency" OR "GSD due to glycogen debranching enzyme deficiency" OR "GSD type 3" OR "GSDIII" OR "Glycogen storage disease type 3" OR "Glycogen storage disease type III" OR "Glycogenosis due to glycogen debranching enzyme deficiency" OR "Glycogenosis type 3" OR "Glycogenosis type III" OR "Limit dextrinosis" OR "AGL glycogen storage disease" OR "glycogen storage disease III" OR "AGL"
Recall-expansion terms: AGL
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: 4 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: glycogen storage disease caused by mutation in AGL
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 2026-07-26T13:34:53.763Z