ORPHA:397937
Polyglucosan body myopathy type 1
Also known as: PGBM1
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
52
51.6th percentile
Trials
0
Interventional, condition-specific
Researchers
423
Distinct authors in sample
Gene link
RBCK1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Polyglucosan body type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with proximal muscle weakness in the lower limbs and rapidly , usually dilated, . Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.
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:0014389
- OMIM:615895
- UMLS:C4014605
Additional Mondo synonyms (3)
polyglucosan body myopathy 1 with or without immunodeficiency · polyglucosan body myopathy type 1 · polyglucosan body myopathy, early-onset, with or without immunodeficiency
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 — RBCK1
- LiteraturePresent
52 matched papers (45 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 (RBCK1).
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?
52
52 papers have ever been published on this condition (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.
52 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).
45 in the last 10 years · high confidence · 51.6th percentile (publications denominator)
Phrase hits: 52 · MeSH hits: 0
Who's working on it?
423
Distinct author names in 52 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.
- 01Iwai K4 papers · 2026
Department of Molecular and Cellular Physiology, Kyoto University School of Medicine, Kyoto 606-8501, Japan.
Papers in Europe PMC - 02Malfatti E4 papers · 2023
Neuromuscular Reference Center, Henri Mondor University Hospital, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Papers in Europe PMC - 03Mitra S4 papers · 2026
Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, U.S.A.
Papers in Europe PMC - 04Oldfors A4 papers · 2026
Department of Laboratory Medicine, Sahlgrenska University Hospital, Institute of Biomedicine, University of Gothenburg, Sweden. Electronic address: anders.oldfors@gu.se.
Papers in Europe PMC - 05Minassian BA3 papers · 2025
Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.
Papers in Europe PMC - 06
- 07
- 08Eisenkölbl A2 papers · 2024
Department of Paediatrics and Adolescent Medicine, Kepler University Hospital, Linz, Austria.
Papers in Europe PMC - 09
- 10Gentry MS2 papers · 2025
Department of Biochemistry and Molecular Biology, College of Medicine, University of Florida, Gainesville, FL, USA; Center for Advanced Spatial Biomolecule Research (CASBR), University of Florida, Gainesville, FL, USA. Electronic address: matthew.gentry@ufl.edu.
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.
Broader category polyglucosan body myopathy also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: polyglucosan body myopathy
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Polyglucosan body myopathy type 1" OR "PGBM1" OR "polyglucosan body myopathy 1 with or without immunodeficiency" OR "polyglucosan body myopathy, early-onset, with or without immunodeficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Polyglucosan body myopathy type 1" OR "PGBM1" OR "polyglucosan body myopathy 1 with or without immunodeficiency" OR "polyglucosan body myopathy, early-onset, with or without immunodeficiency" OR "RBCK1"
Recall-expansion terms: RBCK1
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"polyglucosan body myopathy"
Query health: suspect — strategies attempted: phrase, 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 2026-07-27T15:14:53.327Z