RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:365

Glycogen storage disease due to acid maltase deficiency

low confidenceDisorder

Also known as: Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency · GSD type 2 · GSD type II · Glycogen storage disease type 2 · Glycogen storage disease type II · Glycogenosis due to acid maltase deficiency · Glycogenosis type 2 · Glycogenosis type II · Pompe disease

Publications

7,549

Trials

86

Interventional, condition-specific

Researchers

1,445

Distinct authors in sample

Gene link

GAA

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises -onset disease with severe hypertrophic , generalized muscle weakness, poor feeding and , and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without , with proximal muscle weakness and respiratory insufficiency.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (11)

GAA glycogen storage disease · Pompe Disease · acid maltase deficiency · generalised glycogenosis · glycogen storage disease II · glycogen storage disease caused by mutation in GAA · glycogen storage disease type 2 · glycogen storage disease type II · glycogenosis due to acid maltase deficiency · glycogenosis type 2 · glycogenosis type II

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — GAA

  2. LiteraturePresent

    7,549 matched papers (4,242 in last 10 years) Source

  3. Phenotype characterisedPresent

    158 HPO annotations (e.g. Feeding difficulties in infancy; Oligosacchariduria; Delayed ability to sit) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPresent

    7 FDA designations (7 FDA orphan-indication approvals) — e.g. clervonafusp alfa Source

  6. Interventional trialPresent

    86 matched on ClinicalTrials.gov (13 recruiting in sample)

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 (GAA).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

158

Associated phenotypes · MONDO:0009290

  • Feeding difficulties in infancy
  • Oligosacchariduria
  • Delayed ability to sit
  • Macroglossia
  • Facial hypotonia

Showing 5 of 158 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

Model associations linked to this Mondo ID

Monarch fetch 2026-07-27

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)

7

Designations · 7 with FDA orphan-indication approval

  • FDA clervonafusp alfaPompe Disease · 2018-10-04 · Not FDA Approved for Orphan Indication
  • FDA ClenbuterolPompe Disease Pompe disease · 2017-01-09 · Not FDA Approved for Orphan Indication
  • FDA clenbuterolPompe Disease · 2014-10-27 · Not FDA Approved for Orphan Indication
  • FDA avalglucosidase alfaPompe Disease · 2013-11-19 · Not FDA Approved for Orphan Indication
  • FDA reveglucosidase alfaPompe Disease · 2010-08-20 · Not FDA Approved for Orphan Indication
  • FDA Triheptanoinglycogen storage disorder Pompe Disease · 2008-02-01 · Not FDA Approved for Orphan Indication
  • FDA duvoglustat hydrochloridePompe Disease · 2007-06-18 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

12

Drugs / clinical candidates · MONDO_0009290

CTD chemicals (MyDisease.info)

1 associated chemical · 18 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Glycogen · marker/mechanism

Pathways: Galactose metabolism; Starch and sucrose metabolism; Metabolic pathways; Lysosome; Cardiac muscle contraction; Adrenergic signaling in cardiomyocytes; Hypertrophic cardiomyopathy (HCM); Dilated cardiomyopathy

MyDisease.info · MONDO:0009290

Literature

Is anyone studying this?

7,549

7,549 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

7,549 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).

4,242 in the last 10 years · low confidence

Phrase hits: 7,537 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,445

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
    Schoser B15 papers · 2026

    Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany.

    Papers in Europe PMC
  2. 02
    van der Ploeg AT13 papers · 2026

    Erasmus MC University Medical Center, Rotterdam, Netherlands.

    Papers in Europe PMC
  3. 03
    Kishnani PS11 papers · 2026

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

    Papers in Europe PMC
  4. 04
    Laforêt P9 papers · 2026

    Raymond Poincaré Teaching Hospital, APHP, Garches, France.

    Papers in Europe PMC
  5. 05
    van der Beek NAME9 papers · 2026

    Department of Neurology.

    Papers in Europe PMC
  6. 06
    Díaz-Manera J7 papers · 2026

    The John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute, Newcastle Upon Tyne, UK.

    Papers in Europe PMC
  7. 07
    Domínguez-González C7 papers · 2026

    Neuromuscular disorders Unit, Neurology department, 12 de Octubre Hospital, Madrid, Spain.

    Papers in Europe PMC
  8. 08
    Parenti G7 papers · 2026

    Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, Pozzuoli, Italy. parenti@tigem.it.

    Papers in Europe PMC
  9. 09
    Byrne BJ6 papers · 2026

    Powell Gene Therapy Center, University of Florida, Gainesville, USA.

    Papers in Europe PMC
  10. 10
    Li D6 papers · 2026

    Department of Pediatric Neurology, Tianjin Children's Hospital, Tianjin University Children's Hospital, Tianjin, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

86

interventional trials for this specific condition

86 interventional trials matched this specific condition name; 13 currently recruiting in our sample.

Data as of 9 September 2026 · last trial check 28 July 2026

86 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.3th percentile).

low confidence · 98.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

86 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

62 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

Open the complete matched search on ClinicalTrials.gov

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 21 · after dedupe 21 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 21 · fetched 2026-07-27

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).

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 acid maltase deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 3.

Group 3 — high-cost / lifelong therapy with careful selection

Up to ₹50 lakh per patient

Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.

Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. 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 acid maltase deficiency" OR "Alpha-1,4-glucosidase acid deficiency" OR "GSD due to acid maltase deficiency" OR "GSD type 2" OR "GSD type II" OR "Glycogen storage disease type 2" OR "Glycogen storage disease type II" OR "Glycogenosis due to acid maltase deficiency" OR "Glycogenosis type 2" OR "Glycogenosis type II" OR "Pompe disease" OR "GAA glycogen storage disease" OR "acid maltase deficiency" OR "generalised glycogenosis" OR "glycogen storage disease II") OR ("GAA syndrome" OR "GAA-related")

Run this search on Europe PMC

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

"Glycogen storage disease due to acid maltase deficiency" OR "Alpha-1,4-glucosidase acid deficiency" OR "GSD due to acid maltase deficiency" OR "GSD type 2" OR "GSD type II" OR "Glycogen storage disease type 2" OR "Glycogen storage disease type II" OR "Glycogenosis due to acid maltase deficiency" OR "Glycogenosis type 2" OR "Glycogenosis type II" OR "Pompe disease" OR "GAA glycogen storage disease" OR "acid maltase deficiency" OR "generalised glycogenosis" OR "glycogen storage disease II"

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: 86 interventional · 62 observational · 4 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: glycogen storage disease caused by mutation in GAA

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (7549) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T01:52:04.469Z