Back to discover
Disease
Glycogen Storage Disease
Late-stage therapeutic developmentEmerging research
2
Publications
16
Clinical trials
1
Related treatments
2024
Latest publication
Latest activity
betaRecent clinical, regulatory, research and industry developments relating to this disease.
Neurological glycogen storage diseases and emerging therapeutics.
Research2024-09-14Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
The multifaceted roles of the brain glycogen.
Research2023-08-09Journal of neurochemistry
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Executive briefingUpdating summary…Momentum: Moderate
Key developments
- 4 clinical trials expected to report results, the earliest in Q3 2026.
Upcoming Milestones
- Q3 2026A French Multicenter Open Label Phase 4 Extension Study of Long-term Safety and Efficacy in Patients With Pompe Disease Who Previously Participated in Avalglucosidase Alfa Development Studies in France
- Q3 2027An 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
- Q1 2028An Open Label, Single Center, Exploratory Study of the Safety and Efficacy of Avalglucosidase Alfa Patients With Non-classic Pompe Disease Aged ≥ 5 Years
- Q2 2028A Single-arm, Open-label, Phase 4 Study to Evaluate the Safety and Efficacy of Avalglucosidase Alfa in Chinese Participants With Infantile-onset Pompe Disease (IOPD)
Major developments
Upcoming trial readoutHigh impact
Results expected Q1 20282026-06-17
Upcoming trial readoutHigh impact
Results expected Q2 20282026-03-23
Clinical MilestonesViewHide
Results posted
Results expected
- 2026-06-17An Open Label, Single Center, Exploratory Study of the Safety and Efficacy of Avalglucosidase Alfa Patients With Non-classic Pompe Disease Aged ≥ 5 YearsResults expected Q1 2028
- 2026-03-23A Single-arm, Open-label, Phase 4 Study to Evaluate the Safety and Efficacy of Avalglucosidase Alfa in Chinese Participants With Infantile-onset Pompe Disease (IOPD)Results expected Q2 2028
- 2026-01-22An 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 YearsResults expected Q3 2027
- 2025-10-31A French Multicenter Open Label Phase 4 Extension Study of Long-term Safety and Efficacy in Patients With Pompe Disease Who Previously Participated in Avalglucosidase Alfa Development Studies in FranceResults expected Q3 2026
Recently completed
- 2026-03-02An 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)Primary completion
- 2026-02-20A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type IaCompleted
Activity timeline7
- 2026-06-17ClinicalAn Open Label, Single Center, Exploratory Study of the Safety and Efficacy of Avalglucosidase Alfa Patients With Non-classic Pompe Disease Aged ≥ 5 YearsResults expected Q1 2028
- 2026-03-23ClinicalA Single-arm, Open-label, Phase 4 Study to Evaluate the Safety and Efficacy of Avalglucosidase Alfa in Chinese Participants With Infantile-onset Pompe Disease (IOPD)Results expected Q2 2028
- 2026-03-02ClinicalAn 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)Primary completion
- 2026-02-20ClinicalA Phase 3, Randomized, Double-Blind, Placebo-Controlled Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type IaCompleted
- 2026-01-30ClinicalAn Open-label Ascending Dose Cohort Study to Assess the Safety, Pharmacokinetics, and Preliminary Efficacy of Avalglucosidase Alfa (NeoGAA, GZ402666) in Patients With Infantile-onset Pompe Disease Treated With Alglucosidase Alfa Who Demonstrate Clinical Decline or Sub-optimal Clinical ResponseResults posted
- 2026-01-22ClinicalAn 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 YearsResults expected Q3 2027
- 2025-10-31ClinicalA French Multicenter Open Label Phase 4 Extension Study of Long-term Safety and Efficacy in Patients With Pompe Disease Who Previously Participated in Avalglucosidase Alfa Development Studies in FranceResults expected Q3 2026
Research-associated treatments
Drugs and agents co-studied with this disease across the research literature — associative, not necessarily established treatments. Number shows shared papers.
Clinical trials
The current development programme across all trial phases.
Clinical programme
16
6
11
6
Late-stage studies
Recruiting
Recently completed
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Most influential
Major themes4
- Brain1
- Genetic Therapy1
- Glycogen1
- Glycogen Storage Disease1
Leading journals2
- Journal of neurochemistry1
- Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics1
Leading researchers8
- Byrne BJ2
- Corti M2
- Gentry MS2
- Sun RC2
- Vander Kooi CW2
- Colpaert M1
- Donohue KJ1
- Fuller DD1
Affiliations (unnormalised)5
- College of Medicine2
- Powell Gene Therapy Center2
- Adult Polyglucosan Body Disease Research Foundation1
- Center for Advanced Spatial Biomolecule Research1
- Department of Physical Therapy and Breathing Research and Therapeutics Center1
Reference
Authoritative identity, definition & identifiers.
Defined in MeSH
A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
Identifiers
References & data sources
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.