Disease

Glycogen storage disease due to acid maltase deficiency

Also known as Alpha-1,4-glucosidase acid deficiency, GSD due to acid maltase deficiency, GSD type 2, Glycogen storage disease type 2+3 more

Alpha-1,4-glucosidase acid deficiency, GSD due to acid maltase deficiency, GSD type 2, Glycogen storage disease type 2, Glycogenosis due to acid maltase deficiency, Glycogenosis type 2, Pompe disease.

Associated genes

Latest activity

beta

Recent clinical, regulatory, research and industry developments relating to this disease.

Approval: Nexviadyme (EMA)

Regulatory2022-06-24EMA

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

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Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies

Cipaglucosidase alfaapproved

Approval — Pombiliti (cipaglucosidase alfa) is a long-term enzyme replacement therapy used in combin… (2023)

Miglustatapproved

Approval — Opfolda (miglustat) is an enzyme stabiliser of cipaglucosidase alfa long-term enzyme repl… (2023)

Avalglucosidase alfaapproved

Approval — Nexviadyme (avalglucosidase alfa) is indicated for long-term enzyme replacement therapy f… (2022)

Alglucosidase alfaapproved

Approval — Myozyme is indicated for long-term enzyme-replacement therapy (ERT) in patients with a co… (2006)

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

First approvals

2023emaApproval — Miglustat· Opfolda (miglustat) is an enzyme stabiliser of cipaglucosidase alfa long-term enzyme replacement therapy in adults with late-onset Pompe disease (acid ?- glucosidase [GAA] deficiency). source ↗

2023emaApproval — Cipaglucosidase alfa· Pombiliti (cipaglucosidase alfa) is a long-term enzyme replacement therapy used in combination with the enzyme stabiliser miglustat for the treatment of adults with late-onset Pompe disease (acid ?-glucosidase [GAA] deficiency). source ↗

2022emaApproval — Avalglucosidase alfa· Nexviadyme (avalglucosidase alfa) is indicated for long-term enzyme replacement therapy for the treatment of patients with Pompe disease (acid ?-glucosidase deficiency). source ↗

2006emaApproval — Alglucosidase alfa· Myozyme is indicated for long-term enzyme-replacement therapy (ERT) in patients with a confirmed diagnosis of Pompe disease (acid-?-glucosidase deficiency). In patients with late-onset Pompe disease the evidence of efficacy is limited. source ↗

European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.

Associated genes

2 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

GAA0.88 ASB70.04

Reference

Authoritative identity, definition & identifiers.

Synonyms

Alpha-1,4-glucosidase acid deficiency, GSD due to acid maltase deficiency, GSD type 2, Glycogen storage disease type 2, Glycogenosis due to acid maltase deficiency, Glycogenosis type 2, Pompe disease

References & data sources

Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
Related entities are derived from literature co-mention (studied together) — associative, not causal.