ORPHA:308621
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Also known as: GBE deficiency, progressive hepatic form · GSD due to glycogen branching enzyme deficiency, progressive hepatic form · GSD type 4, progressive hepatic form · GSDIV, progressive hepatic form · Glycogen storage disease type 4, progressive hepatic form · Glycogen storage disease type IV, progressive hepatic form · Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form · Glycogenosis type 4, progressive hepatic form · Glycogenosis type IV, progressive hepatic form
Is anyone studying this?
0
We found no papers under this exact name — work may still exist under another label.
0 in the last 10 years · low confidence
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 26 July 2026
0
no matched trials for glycogen storage disease due to glycogen branching enzyme deficiency, the broader category this belongs to either
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
low confidence
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.
Who's working on it?
0
Distinct author names in 0 sampled papers.
Who's working on it?
No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
Broader category glycogen storage disease due to glycogen branching enzyme deficiency also has no matched interventional trial. See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
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 IV 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 below but are not added to the query string.
"Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form" OR "GBE deficiency, progressive hepatic form" OR "GSD due to glycogen branching enzyme deficiency, progressive hepatic form" OR "GSD type 4, progressive hepatic form" OR "GSDIV, progressive hepatic form" OR "Glycogen storage disease type 4, progressive hepatic form" OR "Glycogen storage disease type IV, progressive hepatic form" OR "Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form" OR "Glycogenosis type 4, progressive hepatic form" OR "Glycogenosis type IV, progressive hepatic form"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form" OR "GBE deficiency, progressive hepatic form" OR "GSD due to glycogen branching enzyme deficiency, progressive hepatic form" OR "GSD type 4, progressive hepatic form" OR "GSDIV, progressive hepatic form" OR "Glycogen storage disease type 4, progressive hepatic form" OR "Glycogen storage disease type IV, progressive hepatic form" OR "Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form" OR "Glycogenosis type 4, progressive hepatic form" OR "Glycogenosis type IV, progressive hepatic form" OR "disorder of glycogen metabolism"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C5679972
Query health: broken — strategies attempted: phrase, recall-expansion; with hits: none
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
- Zero publications but parent term disorder of glycogen metabolism has 117 — literature likely indexed under a broader name