ORPHA:308552
Glycogen storage disease due to acid maltase deficiency, infantile onset
Also known as: Alpha-1,4-glucosidase acid deficiency, infantile onset · GSD due to acid maltase deficiency, infantile onset · GSD type 2, infantile onset · GSD type II, infantile onset · Glycogen storage disease type 2, infantile onset · Glycogen storage disease type II, infantile onset · Glycogenosis due to acid maltase deficiency, infantile onset · Glycogenosis type 2, infantile onset · Glycogenosis type II, infantile onset · Pompe disease, infantile onset
Publications
81
49.2th percentile
Trials
8
Interventional, condition-specific
Researchers
606
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Glycogen storage disease due to acid maltase deficiency, onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.
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:0017694
- OMIM:232300
- UMLS:C3888924
Additional Mondo synonyms (6)
alpha-1,4-glucosidase acid deficiency, infantile onset · glycogen storage disease type 2, infantile onset · glycogen storage disease type II, infantile onset · glycogenosis due to acid maltase deficiency, infantile onset · glycogenosis type 2, infantile onset · glycogenosis type II, infantile 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
81 matched papers (57 in last 10 years) Source
- Phenotype characterisedPresent
74 HPO annotations (e.g. Feeding difficulties in infancy; Oligosacchariduria; Delayed ability to sit) 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
8 matched on ClinicalTrials.gov (4 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)
74
Associated phenotypes · MONDO:0017694
- Feeding difficulties in infancy
- Oligosacchariduria
- Delayed ability to sit
- Macroglossia
- Facial hypotonia
Showing 5 of 74 — 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?
81
81 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=3967) is 59.
81 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).
57 in the last 10 years · high confidence · 49.2th percentile (publications denominator)
Phrase hits: 81 · MeSH hits: 0
Who's working on it?
606
Distinct author names in 81 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 PS5 papers · 2025
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.
Papers in Europe PMC - 02Byrne BJ4 papers · 2020
Department of Pediatrics and Powell Gene Therapy Center, Gainesville, University of Florida, Gainesville, FL, USA.
Papers in Europe PMC - 03Fiumara A4 papers · 2025
Department of Clinical and Experimental Medicine, Metabolic Diseases, Pediatric Clinic, University of Catania, Catania, Italy.
Papers in Europe PMC - 04Kobayashi K4 papers · 2009Papers in Europe PMC
- 05Musumeci O4 papers · 2025
Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, 98125, ME, Italy.
Papers in Europe PMC - 06Parini R4 papers · 2025
Pediatric Rare Diseases Unit, Department of Pediatrics, MBBM Foundation, ATS Monza e Brianza, Via Pergolesi 33, 20900, Monza, Italy. rossella.parini@unimib.it.
Papers in Europe PMC - 07Ravaglia S4 papers · 2025
IRCCS Fondazione Istituto Neurologico Nazionale C.Mondino, Via Mondino, 2, Pavia, 27100, PV, Italy.
Papers in Europe PMC - 08Toscano A4 papers · 2025
Full Professor of Neurology, ERN-NMD Center of Messina for Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, AOU Policlinico "G. Martino", Via Consolare Valeria, 1, Messina, 98125, Italy. antonio.toscano@unime.it.
Papers in Europe PMC - 09Bembi B3 papers · 2023
Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.
Papers in Europe PMC - 10Crescimanno G3 papers · 2025
Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), Via La Malfa 153, Palermo, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
8
interventional trials for this specific condition
8 interventional trials matched this specific condition name; 4 currently recruiting in our sample.
Data as of 11 September 2026
8 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 91.5th percentile).
high confidence · 91.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
8 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07072676·ENROLLING BY INVITATION·The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period.
Not reviewed·Conditions: Inclusion Body Myositis · Myotonic Dystrophy 1 · Myotonic Dystrophy 2 · Facio-Scapulo-Humeral Dystrophy·Matched via name phrase
- NCT04532047·RECRUITING·PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
Not reviewed·Conditions: MPS I · MPS II · MPS IVA · MPS VI·Matched via name phrase
- NCT04808505·RECRUITING·A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18
Not reviewed·Conditions: Glycogen Storage Disease Type II Infantile Onset·Matched via name phrase
- NCT06833489·RECRUITING·Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Not reviewed·Conditions: Rare Genetic Muscle Diseases · Muscular Dystrophy, Duchenne · Muscular Dystrophy, Becker · Congenital Myopathy·Matched via name phrase
Observational and natural-history studies
2 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
- NCT05619900·RECRUITING·Registry of Patients Diagnosed With Lysosomal Storage Diseases
Not reviewed·Conditions: Mucopolysaccharidosis I · Mucopolysaccharidosis II · Mucopolysaccharidosis IV A · Mucopolysaccharidosis VI·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 28 · after dedupe 28 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 28 · 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 (28)
- 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·2023-506761-65-00·Expired·A Two-Part, Seamless, Multi-Center, Randomized, Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7204239 in Combination With Risdiplam (RO7034067) in Patients With Spinal Muscular Atrophy
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·2024-513859-33-00·Cancelled·An Open-label, Multinational, Multicenter, Intravenous Infusion Study of the Efficacy, Safety,
Pharmacokinetics, and Pharmacodynamics of Avalglucosidase Alfa in Treatment-naïve Pediatric Participants with Infantile-Onset Pompe Disease (IOPD)
skipped — LLM skipped (--skip-llm)
- ctis·2023-505161-81-00·Authorised, ongoing·A Phase IV Open-Label Study Evaluating the Effectiveness and Safety of Risdiplam Administered in Pediatric Patients with Spinal Muscular Atrophy who Experienced a Plateau or Decline in Function After Gene Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2023-504508-26-00·Authorised, ongoing·A Phase IV Open-Label Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Patients with Spinal Muscular Atrophy After Gene Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2022-501095-25-01·Authorised, recruiting·An Open-label Study to Evaluate the Safety, Efficacy, Pharmacokinetics, Pharmacodynamics, and Immunogenicity of Cipaglucosidase Alfa/Miglustat in Both ERT-experienced and ERT-naïve Pediatric Subjects with Infantile-onset Pompe Disease Aged 0 to <18 Years
skipped — LLM skipped (--skip-llm)
- ctis·2025-523497-16-00·Authorised·TSRA196-AAT-201: A Phase 1/2, Open-Label, Multi-Center, Dose Escalation, Dose Expansion, and Single Repeat Dose Study of TSRA-196 in Adults With the PiZZ Genotype Who Have Lung and/or Liver Disease Associated with Severe Alpha-1 Antitrypsin Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-522964-33-00·Authorised·A Phase 4, Multicenter, Double-blind, Study to Investigate the Efficacy, Safety, and Tolerability of 3 Active Doses of Respreeza® / Zemaira® Weekly Intravenous Infusions Administered over 3 Years as Longterm Maintenance Therapy in Adult Subjects with Emphysema Related to Alpha1 Antitrypsin Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-523558-14-00·Authorised·A Phase 1 Study of AIR-001 in Adults with AATD.
skipped — LLM skipped (--skip-llm)
- ctis·2025-522792-29-00·Authorised·An Open-label, Multicenter, Randomized, Non-Inferiority Pharmacokinetic and Safety/Tolerability Study of Two Different Weekly Doses of Alpha1-Proteinase Inhibitor Subcutaneous (Human) 15% in Patients with Alpha1-Antitrypsin Deficiency Compared to Corresponding Standard 60 mg/kg/week and 120 mg/kg/week Doses of Intravenous Alpha1-Proteinase Inhibitor (5%)
skipped — LLM skipped (--skip-llm)
- ctis·2024-515894-80-00·Authorised, ongoing·Safety and clinical parameter assessment of a 12-week home self-infusion therapy with Prolastin® in patients with severe alpha-1-antitrypsin (AATD) deficiency. The “Sunshine Study”
skipped — LLM skipped (--skip-llm)
- ctis·2024-517613-33-00·Authorised, ongoing·A two-center, randomized, double-blind, placebo-controlled study of intravenous plasma-purified alpha-1 antitrypsin for hospitalized patients with COPD exacerbations (AECOPD study)
skipped — LLM skipped (--skip-llm)
- ctis·2024-515794-99-00·Authorised, ongoing·Effect of Alpha-1 Antitrypsin Supplementation in Alcohol-Associated Hepatitis-A prospective Pilot Study
skipped — LLM skipped (--skip-llm)
- ctis·2024-511981-36-00·Expired·A Phase 1b/2a Open-label Single Ascending Doses (SAD) and Multiple Ascending Doses (MAD) Research Study to Evaluate Safety, Tolerability, Pharmacokinetics and Pharmacodynamics in Participants with AATD Pi*ZZ on WVE-006 (RestorAATion-2)
skipped — LLM skipped (--skip-llm)
- ctis·2023-509256-34-00·Authorised, recruiting·A Phase 1/2 Dose-Exploration and Dose-Expansion Study to Evaluate the Safety and Efficacy of BEAM-302 in Adult Patients with Alpha-1 Antitrypsin Deficiency (AATD)-Associated Lung Disease and/or Liver Disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-518652-23-00·Cancelled·Long-term safety study of personalized cholic acid treatment in patients with bile acid synthesis defects
skipped — LLM skipped (--skip-llm)
- ctis·2023-508138-33-00·Cancelled·Phase 1/2 Multicenter, Open-label Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NTLA-3001 in Participants with Alpha-1 Antitrypsin Deficiency (AATD)-Associated Lung Disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-518102-41-00·Cancelled·A phase II trial to assess the activity and tolerability of Thymosin alpha 1 in Cystic Fibrosis Patients
skipped — LLM skipped (--skip-llm)
- ctis·2024-516054-21-00·Cancelled·A Prospective Phase III Multi-center, 2-Year Placebo Controlled, Double Blind Study to
Evaluate the Efficacy and Safety of “Kamada-AAT for Inhalation” 80 mg per Day in Adult
Patients with Congenital Alpha-1 Antitrypsin Deficiency with Moderate and Severe Airflow
Limitation (40% ≤ FEV1 ≤ 80% of predicted; FEV1/SVC ≤ 70%), Followed by a 2-Year Open-
Label Extension
skipped — LLM skipped (--skip-llm)
- ctis·2023-508137-14-00·Expired·A Phase 2, Single-Arm, Open-Label Extension Study, Evaluating the Long-Term Safety and Clinical Efficacy of SAR447537 (INBRX-101) in Adults with Alpha-1 Antitrypsin Deficiency (AATD) Emphysema
skipped — LLM skipped (--skip-llm)
- ctis·2023-510030-83-00·Expired·A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of Two Dose Regimens (60 mg/kg and 120 mg/kg) of Weekly Intravenous Alpha1-Proteinase Inhibitor (Human) in Subjects with Pulmonary Emphysema due to Alpha1-Antitrypsin Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2024-513962-20-00·Expired·An Open-Label, Multicenter Study to Evaluate the Long-term Safety of Weekly Intravenous Alphal-Proteinase Inhibitor (Human), Modified Process 60 mg/kg in Subjects With Pulmonary Emphysema Due to Alpha1-Antitrypsin Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2024-511164-92-00·Cancelled·A Phase 2/3, Multicenter, randOmized, Double-blind, placebo-controlled, stUdy to evaLuate the safety and efficacy of Alpha-1 AntiTrypsin for the prEvention of graft versus-host disease in patients receiving hematopoietic cell transplant (MODULAATE Study)
skipped — LLM skipped (--skip-llm)
- ctis·2023-508084-76-00·Cancelled·A Phase 2, Double-blind, Randomized, Active-control, Parallel Group Study to Assess the Pharmacokinetics, Pharmacodynamics, Immunogenicity, and safety of SAR447537 (INBRX-101) Compared to Plasma Derived Apha1-Proteinase Inhibitor (A1PI) Augmentation Therapy in Adults with Alpha-1 Antitrypsin Deficiency (AATD) Emphysema
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, infantile 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, infantile onset" OR "Alpha-1,4-glucosidase acid deficiency, infantile onset" OR "GSD due to acid maltase deficiency, infantile onset" OR "GSD type 2, infantile onset" OR "GSD type II, infantile onset" OR "Glycogen storage disease type 2, infantile onset" OR "Glycogen storage disease type II, infantile onset" OR "Glycogenosis due to acid maltase deficiency, infantile onset" OR "Glycogenosis type 2, infantile onset" OR "Glycogenosis type II, infantile onset" OR "Pompe disease, infantile onset"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Glycogen storage disease due to acid maltase deficiency, infantile onset" OR "Alpha-1,4-glucosidase acid deficiency, infantile onset" OR "GSD due to acid maltase deficiency, infantile onset" OR "GSD type 2, infantile onset" OR "GSD type II, infantile onset" OR "Glycogen storage disease type 2, infantile onset" OR "Glycogen storage disease type II, infantile onset" OR "Glycogenosis due to acid maltase deficiency, infantile onset" OR "Glycogenosis type 2, infantile onset" OR "Glycogenosis type II, infantile onset" OR "Pompe disease, infantile 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: 8 interventional · 2 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
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 2026-07-27T12:52:45.824Z