ORPHA:79259
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Also known as: G6P deficiency type Ib · G6P translocase deficiency · G6PT deficiency · GSD due to G6P deficiency type 1b · GSD due to G6P deficiency type Ib · GSD due to G6PT deficiency · GSD type 1 non a · GSD type 1b · GSD type Ib · GSDIb · Glycogen storage disease due to G6P deficiency type Ib · Glycogen storage disease type 1b · Glycogen storage disease type Ib · Glycogenosis due to glucose-6-phosphatase deficiency type 1b · Glycogenosis due to glucose-6-phosphatase transport defect type Ib · Glycogenosis type 1b · Glycogenosis type Ib
Publications
989
90.9th percentile
Trials
2
Interventional, condition-specific
Researchers
1,239
Distinct authors in sample
Gene link
SLC37A4
Definitive
Readiness
3/6
Stages with a signal
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:0009288
- MeSH:C562594
- OMIM:232220
- OMIM:232240
- UMLS:C0268146
- NCIT:C122661
Additional Mondo synonyms (17)
G6P deficiency type IB · GSD Ib · GSD due to G6P deficiency type IB · GSD type IB · GSD1B · glucose-6-phosphate transport defect · glycogen storage disease Ib · glycogen storage disease Ic · glycogen storage disease due to G6P deficiency type IB · glycogen storage disease type 1b · glycogen storage disease type I non-a · glycogen storage disease type IB · glycogen storage disease type Ic · glycogenosis due to glucose-6-phosphatase deficiency type 1B · glycogenosis due to glucose-6-phosphatase transport defect type IB · glycogenosis type 1b · glycogenosis type IB
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 — SLC37A4
- LiteraturePresent
989 matched papers (558 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 (SLC37A4).
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?
989
989 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.
989 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).
558 in the last 10 years · high confidence · 90.9th percentile (publications denominator)
Phrase hits: 989 · MeSH hits: 1
Who's working on it?
1,239
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.
- 01Derks TGJ13 papers · 2026
University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Section of Metabolic Diseases, Groningen, the Netherlands; UMCG Center of Expertise for Carbohydrate, Fatty Acid Oxidation and Ketone Bodies Disorders, University Medical Center Groningen, Groningen, the Netherlands.
Papers in Europe PMC - 02Veiga-da-Cunha M13 papers · 2026
Walloon Excellence in Lifesciences and Biotechnology, B-1200 Brussels, Belgium; maria.veiga@uclouvain.be emile.vanschaftingen@uclouvain.be.
Papers in Europe PMC - 03Grünert SC12 papers · 2025
Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany. sarah.gruenert@uniklinik-freiburg.de.
Papers in Europe PMC - 04Wang Y10 papers · 2026
State Key Laboratory of Membrane Biology, School of Pharmaceutical Sciences, Key Laboratory of Bioorganic Phosphorus Chemistry and Chemical Biology (Ministry of Education), Tsinghua University, Beijing, China.
Papers in Europe PMC - 05Wortmann SB9 papers · 2026
University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.
Papers in Europe PMC - 06Lee YM8 papers · 2023
Section on Cellular Differentiation, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.
Papers in Europe PMC - 07Jun HS7 papers · 2023
Department of Biotechnology and Bioinformatics, College of Science and Technology, Korea University, Sejong 339-700, Republic of Korea. Electronic address: toddjun@korea.ac.kr.
Papers in Europe PMC - 08Yang M7 papers · 2026
Department of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, 510080, China. yangmin1008@gdph.org.cn.
Papers in Europe PMC - 09Zhang Y7 papers · 2026
Department of Gastroenterology, The First Affiliated Hospital of Hunan Normal University, Hunan Provincial People's Hospital, Changsha, 410005, Hunan, China.
Papers in Europe PMC - 10Bakker BM6 papers · 2026
Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. b.m.bakker01@umcg.nl.
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
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
- NCT07459582·RECRUITING·Accuracy of Home Lactate Meter and Accu-chek Glucometer in Patients With Glycogen Storage Disease
Conditions: Glycogen Storage Disease Type IA · Glycogen Storage Disease Type I · Glycogen Storage Disease Type IB · Glycogen Storage Disease Xi·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 2026-07-26Likely covered — the policy lists Glycogen storage disease type I as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
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 glucose-6-phosphatase deficiency type Ib" OR "G6P deficiency type Ib" OR "G6P translocase deficiency" OR "G6PT deficiency" OR "GSD due to G6P deficiency type 1b" OR "GSD due to G6P deficiency type Ib" OR "GSD due to G6PT deficiency" OR "GSD type 1 non a" OR "GSD type 1b" OR "GSD type Ib" OR "GSDIb" OR "Glycogen storage disease due to G6P deficiency type Ib" OR "Glycogen storage disease type 1b" OR "Glycogen storage disease type Ib" OR "Glycogenosis due to glucose-6-phosphatase deficiency type 1b" OR "Glycogenosis due to glucose-6-phosphatase transport defect type Ib" OR "Glycogenosis type 1b" OR "Glycogenosis type Ib" OR "GSD Ib" OR "GSD1B" OR "glucose-6-phosphate transport defect" OR "glycogen storage disease Ib" OR "glycogen storage disease Ic" OR "glycogen storage disease type I non-a" OR "glycogen storage disease type Ic"
MeSH descriptor terms unioned into the query: Glycogen Storage Disease IB
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib" OR "G6P deficiency type Ib" OR "G6P translocase deficiency" OR "G6PT deficiency" OR "GSD due to G6P deficiency type 1b" OR "GSD due to G6P deficiency type Ib" OR "GSD due to G6PT deficiency" OR "GSD type 1 non a" OR "GSD type 1b" OR "GSD type Ib" OR "GSDIb" OR "Glycogen storage disease due to G6P deficiency type Ib" OR "Glycogen storage disease type 1b" OR "Glycogen storage disease type Ib" OR "Glycogenosis due to glucose-6-phosphatase deficiency type 1b" OR "Glycogenosis due to glucose-6-phosphatase transport defect type Ib" OR "Glycogenosis type 1b" OR "Glycogenosis type Ib" OR "GSD Ib" OR "GSD1B" OR "glucose-6-phosphate transport defect" OR "glycogen storage disease Ib" OR "glycogen storage disease Ic" OR "glycogen storage disease type I non-a" OR "glycogen storage disease type Ic" OR "SLC37A4"
Recall-expansion terms: SLC37A4
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 · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
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 2026-07-27T02:09:47.752Z