ORPHA:711
Glycogen storage disease due to phosphoglucomutase deficiency
Also known as: GSD due to phosphoglucomutase deficiency · GSD type 14 · GSDXIV · Glycogen storage disease type 14 · Glycogen storage disease type XIV · Glycogenosis due to phosphoglucomutase deficiency · Glycogenosis type 14 · Glycogenosis type XIV · Phosphoglucomutase 1 deficiency
Publications
76
Trials
2
Interventional, condition-specific
Researchers
526
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
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 identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
76 matched papers (55 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationPresent
1 FDA designation (1 FDA orphan-indication approval) — e.g. D-Galactose Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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 · 1 with FDA orphan-indication approval
- FDA D-GalactosePHOSPHOGLUCOMUTASE 1 DEFICIENCY · 2019-01-14 · Not FDA Approved for Orphan Indication
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?
76
76 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=3967) is 59.
76 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).
55 in the last 10 years · low confidence
Phrase hits: 76 · MeSH hits: 0
Who's working on it?
526
Distinct author names in 76 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.
- 01Morava E13 papers · 2024
Hayward Genetics Center, Tulane University School of Medicine, 1430 Tulane Ave, New Orleans, LA, 70112, USA, emoravakozicz@tulane.edu.
Papers in Europe PMC - 02Jaeken J6 papers · 2023
Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
Papers in Europe PMC - 03Lefeber DJ6 papers · 2023
Department of Neurology, Translational Metabolic Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboud University Medical Center, Nijmegen, The Netherlands. Dirk.Lefeber@radboudumc.nl.
Papers in Europe PMC - 04Beamer LJ5 papers · 2017
Biochemistry Department, University of Missouri, Columbia, MO, USA.
Papers in Europe PMC - 05Marquardt T5 papers · 2017
Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Münster, Germany. Thorsten.Marquardt@ukmuenster.de.
Papers in Europe PMC - 06Stanley CA5 papers · 2026
Division of Endocrinology, The Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104.
Papers in Europe PMC - 07van Scherpenzeel M5 papers · 2023
Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen, The Netherlands.
Papers in Europe PMC - 08Vissing J5 papers · 2021
Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark.
Papers in Europe PMC - 09Voermans NC5 papers · 2023
Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, Netherlands nicol.voermans@radboudumc.nl.
Papers in Europe PMC - 10Freeze HH4 papers · 2025
Human Genetics Program Sanford Children's Health Research Center Sanford, Burnham Prebys Medical Discovery Institute, La Jolla, CA.
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
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
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.
None of the matched observational studies is currently listed as recruiting.
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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)
- isrctn·ISRCTN12192375·Recruiting·Longitudinal physiological changes in inherited metabolic disorders
skipped — LLM skipped (--skip-llm)
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 phosphoglucomutase deficiency — check Associations / patient organisations on that page.
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 phosphoglucomutase deficiency" OR "GSD due to phosphoglucomutase deficiency" OR "GSD type 14" OR "GSDXIV" OR "Glycogen storage disease type 14" OR "Glycogen storage disease type XIV" OR "Glycogenosis due to phosphoglucomutase deficiency" OR "Glycogenosis type 14" OR "Glycogenosis type XIV" OR "Phosphoglucomutase 1 deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Glycogen storage disease due to phosphoglucomutase deficiency" OR "GSD due to phosphoglucomutase deficiency" OR "GSD type 14" OR "GSDXIV" OR "Glycogen storage disease type 14" OR "Glycogen storage disease type XIV" OR "Glycogenosis due to phosphoglucomutase deficiency" OR "Glycogenosis type 14" OR "Glycogenosis type XIV" OR "Phosphoglucomutase 1 deficiency"
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 · 1 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-26T14:59:32.918Z