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ORPHA:206583

Adult polyglucosan body disease

medium confidenceSubtype of disorder

Also known as: APBD

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

310

77.1th percentile

Trials

1

Interventional, condition-specific

Researchers

1,262

Distinct authors in sample

Gene link

GBE1

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A glycogen storage disease of adults characterized by upper and lower motor neuron dysfunction, neurogenic bladder and cognitive difficulties that can lead to dementia.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.

  1. Gene identifiedPresent

    Moderate — GBE1

  2. LiteraturePresent

    310 matched papers (181 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 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?

Probably — there is moderate evidence for GBE1.

GenCC classification: Moderate.

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?

310

310 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.

310 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).

181 in the last 10 years · medium confidence · 77.1th percentile (publications denominator)

Phrase hits: 310 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,262

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.

  1. 01
    Minassian BA24 papers · 2025

    Program in Genetics and Genomic Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Canada.

    Papers in Europe PMC
  2. 02
    Akman HO22 papers · 2026

    Department of Neurology, Columbia University Medical Center, NewYork, NY, USA. Electronic address: sd12@cumc.columbia.edu.

    Papers in Europe PMC
  3. 03
    Kakhlon O13 papers · 2024

    Department of Neurology, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel, wyatt.yue@sgc.ox.ac.uk ork@hadassah.org.il.

    Papers in Europe PMC
  4. 04
    Lossos A12 papers · 2024

    Department of Neurology, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel.

    Papers in Europe PMC
  5. 05
    DiMauro S11 papers · 2024

    Department of Neurology, Columbia University Medical Center, New York, USA. sd12@columbia.edu

    Papers in Europe PMC
  6. 06
    Gentry MS10 papers · 2026

    Department of Biochemistry and Molecular Biology, University of Florida, Gainesville, FL 32610, USA.

    Papers in Europe PMC
  7. 07
    Koch RL9 papers · 2026

    Division of Medical Genetics, Department of Pediatrics, and.

    Papers in Europe PMC
  8. 08
    Kishnani PS8 papers · 2026

    Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, 27710, USA.

    Papers in Europe PMC
  9. 09
    Schiffmann R8 papers · 2023

    Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX, USA.

    Papers in Europe PMC
  10. 10
    Wang P8 papers · 2025

    Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

Likely 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 on the overview but are not added to the query string.

"Adult polyglucosan body disease"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Polyglucosan Body Disease, Adult Form

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Adult polyglucosan body disease" OR "Polyglucosan Body Disease, Adult Form" OR "GBE1"

Recall-expansion terms: GBE1

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: 1 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

Synonyms dropped by stoplist: APBD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T09:21:00.201Z