MCID: GLY074
MIFTS: 14

Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

MalaCards integrated aliases for Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset:

Name: Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset 58
Alpha-1,4-Glucosidase Acid Deficiency, Late-Onset 58
Gsd Due to Acid Maltase Deficiency, Late-Onset 58
Glycogen Storage Disease Type Ii, Late-Onset 58
Glycogen Storage Disease Type 2, Late-Onset 58
Glycogenosis Type Ii, Late-Onset 58
Glycogenosis Type 2, Late-Onset 58
Pompe Disease, Late-Onset 58
Gsd Type Ii, Late-Onset 58
Gsd Type 2, Late-Onset 58

Characteristics:

Orphanet epidemiological data:

58
glycogen storage disease due to acid maltase deficiency, late-onset
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E74.0
UMLS via Orphanet 71 C3888925
Orphanet 58 ORPHA420429

Summaries for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

MalaCards based summary : Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset, is also known as alpha-1,4-glucosidase acid deficiency, late-onset. An important gene associated with Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset is GAA (Alpha Glucosidase). The drugs mometasone furoate and Miglustat have been mentioned in the context of this disorder.

Related Diseases for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Symptoms & Phenotypes for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Drugs & Therapeutics for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Drugs for Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
mometasone furoate Approved, Investigational, Vet_approved Phase 3 83919-23-7
2
Miglustat Approved Phase 3 72599-27-0 51634
3 Glycoside Hydrolase Inhibitors Phase 3
4 Anti-Retroviral Agents Phase 3
5 Anti-HIV Agents Phase 3
6 Cardiac Glycosides Phase 3
7 Hypoglycemic Agents Phase 3
8 Antiviral Agents Phase 3
9 Anti-Infective Agents Phase 3
10
Clenbuterol Approved, Investigational, Vet_approved Phase 2 37148-27-9 2783
11 Adrenergic beta-Agonists Phase 2
12 Anti-Asthmatic Agents Phase 2
13 Respiratory System Agents Phase 2
14 Adrenergic Agents Phase 2
15 Neurotransmitter Agents Phase 2
16 Sympathomimetics Phase 2
17 Adrenergic Agonists Phase 2
18 Bronchodilator Agents Phase 2

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 An Open-Label Extension Study of Patients With Late-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU02704 Completed NCT00455195 Phase 4
2 A Phase 4 Prospective Exploratory Muscle Biopsy, Biomarker, and Imaging Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa Completed NCT01288027 Phase 4
3 A Phase 3/4 Prospective Study to Characterize the Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Completed NCT01410890 Phase 4
4 Prospective, Open-label, Single-arm, Exploratory Study of the Effect and Safety of rhGAA in Patients With Advanced Late-onset Pompe Disease Who Are Receiving Respiratory Support Completed NCT00268944 Phase 3
5 Randomized, Double-Blind, Placebo-Controlled Study of the Safety, Efficacy and Pharmacokinetics of Myozyme in Patients With Late-Onset Pompe Disease. Completed NCT00158600 Phase 3 Placebo
6 A Phase 3 Double-blind Randomized Study to Assess the Efficacy and Safety of Intravenous ATB200 Co-administered With Oral AT2221 in Adult Subjects With Late Onset Pompe Disease Compared With Alglucosidase Alfa/Placebo Completed NCT03729362 Phase 3 AT2221
7 An Open-label Study of the Pharmacokinetics, Safety, Efficacy, and Pharmacodynamics of ATB200/AT2221 in Pediatric Subjects Aged 12 to < 18 Years With Late-onset Pompe Disease Recruiting NCT03911505 Phase 3 AT2221
8 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 Active, not recruiting NCT04138277 Phase 3 AT2221
9 Single-center, Open-label Study of Safety, Pharmacokinetics and Efficacy of rhGAA in Patients With Late-Onset Pompe Disease Completed NCT00250939 Phase 2
10 An Open-Label Extension Study of the Long-Term Safety and Efficacy of Recombinant Human Acid α-Glucosidase (rhGAA) Given as Enyzme Replacement Therapy to a Single Patient With Pompe Disease (Glycogen Storage Disease Type II) Who Were Previously Enrolled in Genzyme-Sponsored Enzyme Replacement Therapy Studies Completed NCT00765414 Phase 2
11 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 Recruiting NCT04174105 Phase 1, Phase 2
12 Phase II Clinical Trial of Clenbuterol in Adult Patients With Pompe Disease Stably Treated With Enzyme Replacement Therapy Not yet recruiting NCT04094948 Phase 2 Clenbuterol;Placebos
13 Observational Study About the Evolution of Severe Late Onset Pompe Disease Patient With Pulmonary Dysfunction and Receiving Myozyme Completed NCT00731081
14 Screening for Eligibility to Participate in a Clinical Trial of Gene Therapy for Late-onset Pompe Disease Completed NCT03285126

Search NIH Clinical Center for Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset

Genetic Tests for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Anatomical Context for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Publications for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Articles related to Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset:

# Title Authors PMID Year
1
Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease. 61
33799647 2021
2
The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease. 61
29162674 2017
3
The influence of a polymorphism in the gene encoding angiotensin converting enzyme (ACE) on treatment outcomes in late-onset Pompe patients receiving alglucosidase alfa. 61
27489778 2016

Variations for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Expression for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Search GEO for disease gene expression data for Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset.

Pathways for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

GO Terms for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Sources for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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