Pub Date : 2022-11-01DOI: 10.1007/s11940-022-00736-1
David Stevens, Shadi Milani-Nejad, Tahseen Mozaffar
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.
{"title":"Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview.","authors":"David Stevens, Shadi Milani-Nejad, Tahseen Mozaffar","doi":"10.1007/s11940-022-00736-1","DOIUrl":"https://doi.org/10.1007/s11940-022-00736-1","url":null,"abstract":"<p><strong>Purpose of review: </strong>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.</p><p><strong>Recent findings: </strong>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, <i>alglucosidase</i>. 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.</p><p><strong>Summary: </strong>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.</p>","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"24 11","pages":"573-588"},"PeriodicalIF":2.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10035871/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9552138","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-10-08DOI: 10.1007/s11940-022-00743-2
Stephen E. Rostad, Gena R. Ghearing
{"title":"Self-care and Epilepsy","authors":"Stephen E. Rostad, Gena R. Ghearing","doi":"10.1007/s11940-022-00743-2","DOIUrl":"https://doi.org/10.1007/s11940-022-00743-2","url":null,"abstract":"","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"24 1","pages":"641 - 654"},"PeriodicalIF":2.0,"publicationDate":"2022-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48200875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-09-24DOI: 10.1007/s11940-022-00741-4
D. Nordli, Fernando N. Galan
{"title":"Fenfluramine for the Treatment of Dravet Syndrome and Lennox Gastaut Syndrome: A Review","authors":"D. Nordli, Fernando N. Galan","doi":"10.1007/s11940-022-00741-4","DOIUrl":"https://doi.org/10.1007/s11940-022-00741-4","url":null,"abstract":"","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"24 1","pages":"631 - 640"},"PeriodicalIF":2.0,"publicationDate":"2022-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42749909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-09-19DOI: 10.1007/s11940-022-00740-5
Jamie N. Mayo, S. Panahi, A. Roghani, A. V. Van Cott, M. Pugh
{"title":"Treatment of Epilepsy in the Setting of Cognitive Decline in Older Adults","authors":"Jamie N. Mayo, S. Panahi, A. Roghani, A. V. Van Cott, M. Pugh","doi":"10.1007/s11940-022-00740-5","DOIUrl":"https://doi.org/10.1007/s11940-022-00740-5","url":null,"abstract":"","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"24 1","pages":"619 - 630"},"PeriodicalIF":2.0,"publicationDate":"2022-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42786004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-09-15DOI: 10.1007/s11940-022-00739-y
R. Abbas, Fadi Al-Saiegh, E. Atallah, K. Naamani, S. Tjoumakaris, M. Gooch, N. Herial, P. Jabbour, R. Rosenwasser
{"title":"Treatment of Intracerebral Vascular Malformations: When to Intervene","authors":"R. Abbas, Fadi Al-Saiegh, E. Atallah, K. Naamani, S. Tjoumakaris, M. Gooch, N. Herial, P. Jabbour, R. Rosenwasser","doi":"10.1007/s11940-022-00739-y","DOIUrl":"https://doi.org/10.1007/s11940-022-00739-y","url":null,"abstract":"","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"24 1","pages":"655 - 671"},"PeriodicalIF":2.0,"publicationDate":"2022-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44839822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-09-05DOI: 10.1007/s11940-022-00738-z
Nicholas J. Nelson, Briana Wasserstrom, C. Maciel
{"title":"Temperature Control in Hypoxic-Ischemic Brain Injury—a Focused Update","authors":"Nicholas J. Nelson, Briana Wasserstrom, C. Maciel","doi":"10.1007/s11940-022-00738-z","DOIUrl":"https://doi.org/10.1007/s11940-022-00738-z","url":null,"abstract":"","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"24 1","pages":"551 - 572"},"PeriodicalIF":2.0,"publicationDate":"2022-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42289210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-08-31DOI: 10.1007/s11940-022-00725-4
Haamid Siddique, H. Elkambergy, A. Bayrlee, Y. Abulhasan, F. Roser, J. Dibu
{"title":"Management of External Ventricular Drains and Related Complications: a Narrative Review","authors":"Haamid Siddique, H. Elkambergy, A. Bayrlee, Y. Abulhasan, F. Roser, J. Dibu","doi":"10.1007/s11940-022-00725-4","DOIUrl":"https://doi.org/10.1007/s11940-022-00725-4","url":null,"abstract":"","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"24 1","pages":"347 - 363"},"PeriodicalIF":2.0,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46327930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-08-19DOI: 10.1007/s11940-022-00735-2
Y. Cha
{"title":"Update on Therapies for Mal de Débarquement Syndrome","authors":"Y. Cha","doi":"10.1007/s11940-022-00735-2","DOIUrl":"https://doi.org/10.1007/s11940-022-00735-2","url":null,"abstract":"","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"24 1","pages":"485 - 501"},"PeriodicalIF":2.0,"publicationDate":"2022-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48788685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-08-16DOI: 10.1007/s11940-022-00732-5
J. Dibu, R. Haque, Samer Shoshan, Y. Abulhasan
{"title":"Treatment of Fever in Neurologically Critically Ill Patients","authors":"J. Dibu, R. Haque, Samer Shoshan, Y. Abulhasan","doi":"10.1007/s11940-022-00732-5","DOIUrl":"https://doi.org/10.1007/s11940-022-00732-5","url":null,"abstract":"","PeriodicalId":10975,"journal":{"name":"Current Treatment Options in Neurology","volume":"24 1","pages":"515 - 531"},"PeriodicalIF":2.0,"publicationDate":"2022-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45997992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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