ORPHA:137625
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Also known as: GSD due to muscle and heart glycogen synthase deficiency · GSD type 0b · Glycogen storage disease type 0b · Glycogenosis due to muscle and heart glycogen synthase deficiency · Glycogenosis type 0b
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
8
24.9th percentile
Trials
0
Interventional, condition-specific
Researchers
57
Distinct authors in sample
Gene link
GYS1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic , abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.
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:0012693
- MeSH:C566917
- OMIM:611556
- UMLS:C1969054
Additional Mondo synonyms (5)
glycogen storage disease due to glycogen synthase deficiency of heart · glycogen storage disease type 0b · glycogenosis due to muscle and heart glycogen synthase deficiency · glycogenosis type 0b · heart glycogen storage disease due to glycogen synthase deficiency
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — GYS1
- LiteraturePresent
8 matched papers (8 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (GYS1).
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?
8
8 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
8 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).
8 in the last 10 years · high confidence · 24.9th percentile (publications denominator)
Phrase hits: 8 · MeSH hits: 0
Who's working on it?
57
Distinct author names in 8 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01
- 02Baba O1 paper · 2023
Tokushima University Graduate School, 3-18-15, Kuramoto-Cho, Tokushima, 770-8504, Japan.
Papers in Europe PMC - 03Bridges E1 paper · 2023
Department of Oncology, Weatherall Institute of Molecular Medicine, University of Oxford, Hypoxia and Angiogenesis Group, Cancer Research UK Molecular Oncology Laboratories, Oxford, OX3 9DS, UK.
Papers in Europe PMC - 04Büyükdereli L1 paper · 2025
Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Universitat Autònoma de Barcelona, Barcelona, Spain.
Papers in Europe PMC - 05Byrne BJ1 paper · 2024
Department of Pediatrics, Powell Gene Therapy Center, College of Medicine, University of Florida, Gainesville, FL, USA.
Papers in Europe PMC - 06Cocanougher BT1 paper · 2024
Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
Papers in Europe PMC - 07Codina-Solà M1 paper · 2025
Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, 08035 Barcelona, Spain; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Universitat Autònoma de Barcelona, Barcelona, Spain.
Papers in Europe PMC - 08Colpaert M1 paper · 2024
Department of Biochemistry and Molecular Biology, College of Medicine, University of Florida, Gainesville, FL, USA.
Papers in Europe PMC - 09Conte F1 paper · 2023
Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Papers in Europe PMC - 10Corti M1 paper · 2024
Department of Pediatrics, Powell Gene Therapy Center, College of Medicine, University of Florida, Gainesville, FL, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches 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
- 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.
"Glycogen storage disease due to muscle and heart glycogen synthase deficiency" OR "GSD due to muscle and heart glycogen synthase deficiency" OR "GSD type 0b" OR "Glycogen storage disease type 0b" OR "Glycogenosis due to muscle and heart glycogen synthase deficiency" OR "Glycogenosis type 0b" OR "glycogen storage disease due to glycogen synthase deficiency of heart" OR "glycogen storage disease due to glycogen synthase deficiency of the heart" OR "heart glycogen storage disease due to glycogen synthase deficiency"
MeSH descriptor terms unioned into the query: Glycogen Storage Disease 0, Muscle
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Glycogen storage disease due to muscle and heart glycogen synthase deficiency" OR "GSD due to muscle and heart glycogen synthase deficiency" OR "GSD type 0b" OR "Glycogen storage disease type 0b" OR "Glycogenosis due to muscle and heart glycogen synthase deficiency" OR "Glycogenosis type 0b" OR "glycogen storage disease due to glycogen synthase deficiency of heart" OR "glycogen storage disease due to glycogen synthase deficiency of the heart" OR "heart glycogen storage disease due to glycogen synthase deficiency" OR "Glycogen Storage Disease 0, Muscle" OR "GYS1" OR "disorder of glycogen metabolism"
Recall-expansion terms: GYS1, disorder of glycogen metabolism
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
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 2026-07-27T07:26:25.306Z