Details of Disease

General Information of Disease (ID: DISDJ8C0)

• Disease Name: Pompe disease
• Disease Class: 5C51: Inborn carbohydrate metabolism error
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DISDJ8C0: Pompe disease
• ICD Code:
  ICD-11: ICD-11: 5C51.3
  ICD-10: ICD-10: E74.0
  Expand ICD-11: '5C51.3
  Expand ICD-10: 'E74.0

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 4 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Alglucosidase alfa	DM4LOD0	Approved	NA	[1]
Avalglucosidase alfa	DMPW5UF	Approved	Recombinant protein	[2]
Cipaglucosidase alfa	DMAPDH2	Approved in EU	Enzyme replacement	[3]
Rh-alphaglucosidase	DMNF0G8	Approved	NA	[4]

This Disease is Treated as An Indication in 9 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AT-GAA	DMACJ07	Phase 3	Protein/peptide	[5]
BMN-701	DM94Y6O	Phase 3	NA	[6]
Deoxynojirimycin	DM2ATZB	Phase 3	Small molecular drug	[7]
Neo-GAA	DMYXN0S	Phase 2/3	NA	[8]
AT845	DMZJIIB	Phase 2	Gene therapy	[9]
SPK-3006	DMK9DG5	Phase 1/2	Gene therapy	[10]
AAV2/8-LSPhGAA	DMIX5HF	Phase 1	Gene therapy	[11]
DTX401	DM8WBNF	Phase 1	Gene therapy	[12]
GZ402666	DMGO6M1	Phase 1	NA	[13]

This Disease is Treated as An Indication in 1 Preclinical Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
5-(4-(4-Acetylphenyl)piperazin-1-ylsulfonyl)-6-chloroindolin-2-one	DMAJWLD	Preclinical	Small molecular drug	[14]

This Disease is Treated as An Indication in 1 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
BMN-103	DMYWEO6	Investigative	NA	[15]

Molecular Interaction Atlas (MIA) of This Disease

References

• [1] URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7561).
• [2] FDA Approved Drug Products from FDA Official Website. 2021. Application Number: 761194.
• [3] FDA Approved Drug Products from FDA Official Website. 2023. Application Number: 761204
• [4] Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
• [5] ClinicalTrials.gov (NCT03729362) PROPEL Study - A Study Comparing ATB200/AT2221 With Alglucosidase/Placebo in Adult Subjects With LOPD. U.S. National Institutes of Health.
• [6] ClinicalTrials.gov (NCT01924845) BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study). U.S. National Institutes of Health.
• [7] The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. Hum Mutat. 2009 Dec;30(12):1683-92.
• [8] ClinicalTrials.gov (NCT02032524) NeoGAA Extension Study. U.S. National Institutes of Health.
• [9] ClinicalTrials.gov (NCT04174105) A Phase 1/2, Open-Label, Ascending-Dose Clinical Study to Evaluate the Safety and Preliminary Efficacy of AT845, an AAV8-Delivered Gene Transfer Therapy in Patients With Late Onset Pompe Disease. U.S.National Institutes of Health.
• [10] ClinicalTrials.gov (NCT04093349) 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. U.S.National Institutes of Health.
• [11] ClinicalTrials.gov (NCT03533673) AAV2/8-LSPhGAA in Late-Onset Pompe Disease. U.S. National Institutes of Health.
• [12] ClinicalTrials.gov (NCT03517085) Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa). U.S. National Institutes of Health.
• [13] ClinicalTrials.gov (NCT01898364) Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.. U.S. National Institutes of Health.
• [14] Discovery of a novel noniminosugar acid alpha glucosidase chaperone series. J Med Chem. 2012 Sep 13;55(17):7546-59.
• [15] URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 2627).