PMID- 36969713
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230329
IS  - 1092-8480 (Print)
IS  - 1534-3138 (Electronic)
IS  - 1092-8480 (Linking)
VI  - 24
IP  - 11
DP  - 2022 Nov
TI  - Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview.
PG  - 573-588
LID - 10.1007/s11940-022-00736-1 [doi]
AB  - PURPOSE OF REVIEW: This review summarizes the clinical presentation and provides 
      an update on the current strategies for diagnosis of Pompe disease. We will 
      review the available treatment options. We examine newly approved treatments as 
      well as upcoming therapies in this condition. We also provide commentary on the 
      unmet needs in clinical management and research for this disease. RECENT 
      FINDINGS: In March 2015, Pompe disease was added to the Recommended Uniform 
      Screening Panel (RUSP) and since then a number of states have added Pompe disease 
      to their slate of diseases for their Newborn Screening (NBS) program. Data 
      emerging from these programs is revising our knowledge of incidence of Pompe 
      disease. In 2021, two randomized controlled trials involving new forms of enzyme 
      replacement therapy (ERT) were completed and one new product is already 
      FDA-approved and on the market, whereas the other product will come up for FDA 
      review in the fall. Neither of the new ERT were shown to be superior to the 
      standard of care product, alglucosidase. The long-term effectiveness of these 
      newer forms of ERT is unclear. Newer versions of the ERT are in development in 
      addition to multiple different strategies of gene therapy to deliver GAA, the 
      gene responsible for producing acid alpha-glucosidase, the defective protein in 
      Pompe Disease. Glycogen substrate reduction is also in development in Pompe 
      disease and other glycogen storage disorders. SUMMARY: There are significant 
      unmet needs as it relates to clinical care and therapeutics in Pompe disease as 
      well as in research. The currently available treatments lose effectiveness over 
      the long run and do not have penetration into neuronal tissues and inconsistent 
      penetration in certain muscles. More definitive gene therapy and enzyme 
      replacement strategies are currently in development and testing.
FAU - Stevens, David
AU  - Stevens D
AD  - Departments of Neurology, 200 S. Manchester Avenue, Ste. 206, Orange, CA 92868, 
      USA.
FAU - Milani-Nejad, Shadi
AU  - Milani-Nejad S
AD  - Departments of Neurology, 200 S. Manchester Avenue, Ste. 206, Orange, CA 92868, 
      USA.
FAU - Mozaffar, Tahseen
AU  - Mozaffar T
AUID- ORCID: 0000-0002-1230-0188
AD  - Departments of Neurology, 200 S. Manchester Avenue, Ste. 206, Orange, CA 92868, 
      USA.
AD  - Pathology & Laboratory Medicine, School of Medicine, University of California, 
      Irvine, USA.
AD  - The Institute for Immunology, School of Medicine, University of California, 
      Irvine, USA.
LA  - eng
GR  - R01 AR078340/AR/NIAMS NIH HHS/United States
GR  - U24 NS107210/NS/NINDS NIH HHS/United States
GR  - UL1 TR001414/TR/NCATS NIH HHS/United States
PT  - Journal Article
DEP - 20220804
PL  - United States
TA  - Curr Treat Options Neurol
JT  - Current treatment options in neurology
JID - 9815940
PMC - PMC10035871
MID - NIHMS1847668
OTO - NOTNLM
OT  - Acid maltase deficiency
OT  - Alpha-glucosidase deficiency
OT  - Enzyme replacement therapy
OT  - Gene therapy
OT  - Glycogen storage disease II (GSDII)
OT  - Pompe disease
COIS- Compliance with Ethical Standards Conflict of Interest Drs. Stevens and Milani 
      declare that they have no financial interests. Dr. Mozaffar discloses an advisory 
      role for and/or receiving research funds from Alexion, Amicus, Argenx, Arvinas, 
      Audentes, AvroBio, Horizon Therapeutics, Immunovant, Maze Therapeutics, Momenta 
      (now Janssen), Sanofi-Genzyme, Sarepta, Spark Therapeutics, UCB, and 
      Modis/Zogenix. Dr. Mozaffar also serves on the data safety monitoring board for 
      Acceleron, Avexis, and Sarepta.
EDAT- 2023/03/28 06:00
MHDA- 2023/03/28 06:01
PMCR- 2023/03/23
CRDT- 2023/03/27 03:41
PHST- 2023/03/27 03:41 [entrez]
PHST- 2023/03/28 06:00 [pubmed]
PHST- 2023/03/28 06:01 [medline]
PHST- 2023/03/23 00:00 [pmc-release]
AID - 10.1007/s11940-022-00736-1 [doi]
PST - ppublish
SO  - Curr Treat Options Neurol. 2022 Nov;24(11):573-588. doi: 
      10.1007/s11940-022-00736-1. Epub 2022 Aug 4.