ORPHA:420429
Glycogen storage disease due to acid maltase deficiency, late-onset
Also known as: Alpha-1,4-glucosidase acid deficiency, late-onset · GSD due to acid maltase deficiency, late-onset · GSD type 2, late-onset · GSD type II, late-onset · Glycogen storage disease type 2, late-onset · Glycogen storage disease type II, late-onset · Glycogenosis type 2, late-onset · Glycogenosis type II, late-onset · Pompe disease, late-onset
Publications
16
31.9th percentile
Trials
23
Interventional, condition-specific
Researchers
91
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare form of glycogen storage disease due to acid maltase deficiency characterized by excessive accumulation of glycogen in lysosomes most notably in skeletal muscle, leading to slowly muscle weakness with walking disability and reduced respiratory function. The late-onset form includes all cases in which hypertrophic did not manifest or was not diagnosed at or under the age of 1 year, as well as all cases with symptom onset above the age of 1 year.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018485
- OMIM:621314
- UMLS:C0342753
Additional Mondo synonyms (14)
Alpha-1,4-glucosidase acid deficiency, late onset · GSD due to acid maltase deficiency, late onset · GSD type 2, late onset · GSD type II, late onset · LOPD · Pompe disease, late onset · glycogen storage disease type 2, late onset · glycogen storage disease type 2, late-onset · glycogen storage disease type II, late onset · glycogen storage disease type II, late-onset · glycogenosis type 2, late onset · glycogenosis type 2, late-onset · glycogenosis type II, late onset · glycogenosis type II, late-onset
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
16 matched papers (14 in last 10 years) Source
- Phenotype characterisedPresent
12 HPO annotations (e.g. Elevated circulating creatine kinase activity; Generalized muscle weakness; Elevated circulating alanine aminotransferase concentration) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
23 matched on ClinicalTrials.gov (5 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
12
Associated phenotypes · MONDO:0018485
- Elevated circulating creatine kinase activity
- Generalized muscle weakness
- Elevated circulating alanine aminotransferase concentration
- Lower limb muscle weakness
- Elevated circulating aspartate aminotransferase concentration
Showing 5 of 12 — open Monarch for the full list.
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)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
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?
16
16 papers have ever been indexed 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.
16 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).
14 in the last 10 years · medium confidence · 31.9th percentile (publications denominator)
Phrase hits: 16 · MeSH hits: 0
Who's working on it?
91
Distinct author names in 16 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.
- 01Kishnani PS3 papers · 2026
Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC, USA.
Papers in Europe PMC - 02Aguiar P1 paper · 2024
MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.
Papers in Europe PMC - 03Akaaboune SR1 paper · 2024
Department of Molecular, Cellular and Developmental Biology, University of Michigan, Ann Arbor, MI, United States.
Papers in Europe PMC - 04Alagia M1 paper · 2024
MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.
Papers in Europe PMC - 05Attaianese F1 paper · 2024
MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.
Papers in Europe PMC - 06Azevedo O1 paper · 2024
MetabERN Subnetwork for Lysosomal Disorders, Rotterdam, The Netherlands.
Papers in Europe PMC - 07
- 08Barbacini P1 paper · 2021
Department of Biomedical Sciences for Health, University of Milan, 20090 Milano, Italy.
Papers in Europe PMC - 09Bellistri G1 paper · 2012Papers in Europe PMC
- 10Bergelt C1 paper · 2024
University Medical Center Greifswald, Department of Medical Psychology, Germany.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
23
interventional trials for this specific condition
23 interventional trials matched this specific condition name; 5 currently recruiting in our sample.
Data as of 11 September 2026
23 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.3th percentile).
medium confidence · 95.3th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
23 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06391736·RECRUITING·Evaluation of the Safety and Efficacy of Late-onset Pompe Disease Gene Therapy Drug
Not reviewed·Conditions: Pompe Disease (Late-onset)·Matched via name phrase
- NCT06575829·NOT YET RECRUITING·Treatment Frequency Reduction in Pompe Disease
Not reviewed·Conditions: Pompe Disease (Late-onset) · GAA Deficiency · Glycogen Storage Disease Type II · Acid Maltase Deficiency·Matched via name phrase
- NCT07282847·RECRUITING·A Study to Evaluate Safety, Tolerability, and Efficacy of AB-1009 Gene Therapy (GAA Gene) in Adult Participants With Late-Onset Pompe Disease (PROGRESS-GT LOPD)
Not reviewed·Conditions: Pompe Disease (Late-onset) · Pompe Disease Late-Onset · LOPD·Matched via name phrase
- NCT06178432·NOT YET RECRUITING·Evaluation of the Safety, Tolerability and Efficacy of Gene Therapy Drug for Late Onset Pompe Disease (LOPD)
Not reviewed·Conditions: Pompe Disease (Late-onset)·Matched via name phrase
- NCT07478172·RECRUITING·Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Not reviewed·Conditions: Neuromuscular Diseases (NMD) · Amyotrophic Lateral Sclerosis · Myasthenia Gravis · Lambert-eaton Myasthenic Syndrome·Matched via name phrase
Observational and natural-history studies
9 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
- NCT00567073·RECRUITING·Pompe Pregnancy Sub-Registry
Not reviewed·Conditions: Glycogen Storage Disease Type II (GSD-II) · Pompe Disease (Late-onset) · Glycogenesis 2 Acid Maltase Deficiency·Matched via name phrase
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 47 · after dedupe 46 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 46 · dropped 0 · fetched 2026-07-30
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 (46)
- ctis·2025-524082-25-00·Authorised·A Phase 1b/2a, Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of DNL952 in Adult Participants with Late-Onset Pompe Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-520842-31-00·Authorised·ANTIPROM - Comparison of two prophylactic antibiotic regimens in case of preterm prelabor rupture of membranes before 34 weeks of gestation: a randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523284-37-00·Authorised, ongoing·CHARACTERIZATION OF ASTROCYTE REACTIVITY WITH [18F]F-DED PET IN NEURODEGENERATIVE DISEASES
skipped — LLM skipped (--skip-llm)
- ctis·2025-522146-40-00·Authorised, ongoing·A phase 2, multicenter, randomized, placebo-controlled, double-blind study to investigate the safety, pharmacodynamics, and preliminary efficacy of S-606001 as an add-on to enzyme replacement therapy in patients with late-onset Pompe disease.
skipped — LLM skipped (--skip-llm)
- ctis·2022-503070-36-00·Authorised, ongoing·C1091009 - A PHASE 3, RANDOMIZED, PLACEBO-CONTROLLED, DOUBLE-BLINDED TRIAL TO EVALUATE THE SAFETY, TOLERABILITY, AND IMMUNOGENICITY OF A MULTIVALENT GROUP B STREPTOCOCCUS VACCINE IN HEALTHY PREGNANT WOMEN AND THEIR INFANTS
skipped — LLM skipped (--skip-llm)
- ctis·2025-521497-34-00·Authorised, ongoing·Long-term follow-up of patients treated with GD2IL18CART
skipped — LLM skipped (--skip-llm)
- ctis·2024-518269-92-00·Authorised·Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease; Long-term follow-up of patients receiving commercially available Myozyme
skipped — LLM skipped (--skip-llm)
- ctis·2024-511340-29-02·Cancelled·Impact of peri-operative tEstosterone levels oN Functional and oncological Outcomes following RadiCal prostatEctomy (ENFORCE)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516566-11-00·Expired·Impact of microglial activation on synaptic density in Alzheimer’s disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-514255-15-01·Authorised, ongoing·Open label, single-center pilot study to investigate enzyme replacement therapy (ERT) frequency reduction from 2 to 4 weeks in a subgroup of elderly patients with late-onset Pompe disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-517102-29-00·Authorised, ongoing·A Multi-center, Double-Blind, Randomized, Two-Arm, Parallel-Group, Placebo Controlled Study to Assess the Safety of ELGN-2112 in Populations of Interest
skipped — LLM skipped (--skip-llm)
- ctis·2024-518215-18-00·Authorised, ongoing·An open-label, single-center, exploratory study of the safety and efficacy of avalglucosidase alfa in patients with non-classic Pompe disease aged ≥ 5 years.
skipped — LLM skipped (--skip-llm)
- ctis·2024-511898-30-00·Cancelled·Impact of post-Acute respiratory distress syndrome COVID sedation on late neuroinflammation (PET-DEXDOCOVID)
skipped — LLM skipped (--skip-llm)
- ctis·2024-514337-38-00·Expired·A Phase 3, Randomized, Double-blind, Placebo-controlled Study of Adeno-associated Virus Serotype 8 (AAV8)-mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Patients with Late-onset OTC Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2024-515356-21-00·Cancelled·GFM-EPO-PRETAR: A randomized trial testing early versus late onset of EPO alfa treatment in lower risk MDS with non RBC transfusion dependent anemia and without del 5q
skipped — LLM skipped (--skip-llm)
- ctis·2023-509303-32-00·Authorised, recruiting·Phase 1/2 Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Infusion of SPK-3006 in Adults with Late-Onset Pompe Disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-514773-22-00·Expired·A French multicenter Phase 4 open label extension study of long-term safety and efficacy in patients with Pompe disease who previously participated in avalglucosidase development studies in France
skipped — LLM skipped (--skip-llm)
- ctis·2023-505170-15-00·Expired·A Phase 3 Open-label Extension Study to Assess the Long-term Safety and Efficacy of Intravenous ATB200 Co-administered With Oral AT2221 in Adult Subjects With Late-onset Pompe Disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-512004-19-01·Authorised, ongoing·The NIPA study: A randomized double-blind control clinical trial Naloxegol administration to prevent opioids induced gastrointestinal motility disturbance in brain Injured PAtients.
skipped — LLM skipped (--skip-llm)
- ctis·2023-505832-36-01·Cancelled·OPEN-LABEL EXTENSION STUDY TO ASSESS THE SAFETY AND LONG-TERM EFFECTIVENESS OF ORALLY ADMINISTERED EFAVIRENZ IN PATIENTS DIAGNOSED WITH ADULT OR LATE-ONSET JUVENILE TYPE C NIEMANN-PICK DISEASE WITH COGNITIVE IMPAIRMENT
skipped — LLM skipped (--skip-llm)
- ctis·2023-507041-28-00·Authorised, ongoing·Long-term Follow-up Study for Participants of Kite-Sponsored Interventional Studies Treated With Gene-Modified Cells
skipped — LLM skipped (--skip-llm)
- ctis·2022-501648-14-00·Authorised, ongoing·Long-Term Follow-up of Patients Treated with Miltenyi Cell and Gene Therapies
skipped — LLM skipped (--skip-llm)
- ctis·2023-503705-10-00·Authorised, ongoing·Patient- and care-related benefits of amyloid PET imaging (ENABLE)
skipped — LLM skipped (--skip-llm)
- ctis·2022-502547-36-00·Cancelled·An Open-label Study of the Safety, Pharmacokinetics, Efficacy, Pharmacodynamics, and Immunogenicity of Cipaglucosidase Alfa/Miglustat in Pediatric Subjects Aged 0 to < 18 Years with Late-onset Pompe Disease
skipped — LLM skipped (--skip-llm)
- ctis·2022-501146-30-00·Expired·A Long-Term Follow-up Study to Evaluate the Safety and Efficacy of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Adults with Late-Onset OTC Deficiency
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 acid maltase deficiency, late-onset — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26Likely covered — the policy lists Pompe disease as a category (Group 3), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
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, late-onset" OR "Alpha-1,4-glucosidase acid deficiency, late-onset" OR "GSD due to acid maltase deficiency, late-onset" OR "GSD type 2, late-onset" OR "GSD type II, late-onset" OR "Glycogen storage disease type 2, late-onset" OR "Glycogen storage disease type II, late-onset" OR "Glycogenosis type 2, late-onset" OR "Glycogenosis type II, late-onset" OR "Pompe disease, late-onset" OR "Alpha-1,4-glucosidase acid deficiency, late onset" OR "GSD due to acid maltase deficiency, late onset" OR "GSD type 2, late onset" OR "GSD type II, late onset" OR "Pompe disease, late onset" OR "glycogen storage disease type 2, late onset" OR "glycogen storage disease type II, late onset" OR "glycogenosis type 2, late onset" OR "glycogenosis type II, late onset"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Glycogen storage disease due to acid maltase deficiency, late-onset" OR "Alpha-1,4-glucosidase acid deficiency, late-onset" OR "GSD due to acid maltase deficiency, late-onset" OR "GSD type 2, late-onset" OR "GSD type II, late-onset" OR "Glycogen storage disease type 2, late-onset" OR "Glycogen storage disease type II, late-onset" OR "Glycogenosis type 2, late-onset" OR "Glycogenosis type II, late-onset" OR "Pompe disease, late-onset" OR "Alpha-1,4-glucosidase acid deficiency, late onset" OR "GSD due to acid maltase deficiency, late onset" OR "GSD type 2, late onset" OR "GSD type II, late onset" OR "Pompe disease, late onset" OR "glycogen storage disease type 2, late onset" OR "glycogen storage disease type II, late onset" OR "glycogenosis type 2, late onset" OR "glycogenosis type II, late onset"
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: 23 interventional · 9 observational · 1 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: LOPD
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 2026-07-27T15:46:58.397Z