Current and future treatment approaches for Barth syndrome
Barth Syndrome is an X‐linked disorder of mitochondrial cardiolipin metabolism caused by pathogenic variants in TAFAZZIN with pleiotropic effects including cardiomyopathy, neutropenia, growth delay, and skeletal myopathy. Management requires a multidisciplinary approach to the organ‐specific manifes...
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| Veröffentlicht in: | Journal of inherited metabolic disease 2022-01, Vol.45 (1), p.17-28 |
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| container_title | Journal of inherited metabolic disease |
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| creator | Thompson, Reid Jefferies, John Wang, Suya Pu, William T. Takemoto, Clifford Hornby, Brittany Heyman, Andrea Chin, Michael T. Vernon, Hilary J. |
| description | Barth Syndrome is an X‐linked disorder of mitochondrial cardiolipin metabolism caused by pathogenic variants in TAFAZZIN with pleiotropic effects including cardiomyopathy, neutropenia, growth delay, and skeletal myopathy. Management requires a multidisciplinary approach to the organ‐specific manifestations including specialists from cardiology, hematology, nutrition, physical therapy, genetics, and metabolism. Currently, treatment is centered on management of specific clinical features, and is not targeted toward remediating the underlying biochemical defect. However, two clinical trials have been recently undertaken which target the mitochondrial pathology of this disease: a study to examine the effects of elamipretide, a cardiolipin targeted agent, and a study to examine the effects of bezafibrate, a peroxisome proliferator‐activated receptor (PPAR) agonist. Treatments to directly target the defective TAFAZZIN pathway are under development, including enzyme and gene therapies. |
| doi_str_mv | 10.1002/jimd.12453 |
| format | Article |
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Management requires a multidisciplinary approach to the organ‐specific manifestations including specialists from cardiology, hematology, nutrition, physical therapy, genetics, and metabolism. Currently, treatment is centered on management of specific clinical features, and is not targeted toward remediating the underlying biochemical defect. However, two clinical trials have been recently undertaken which target the mitochondrial pathology of this disease: a study to examine the effects of elamipretide, a cardiolipin targeted agent, and a study to examine the effects of bezafibrate, a peroxisome proliferator‐activated receptor (PPAR) agonist. 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Management requires a multidisciplinary approach to the organ‐specific manifestations including specialists from cardiology, hematology, nutrition, physical therapy, genetics, and metabolism. Currently, treatment is centered on management of specific clinical features, and is not targeted toward remediating the underlying biochemical defect. However, two clinical trials have been recently undertaken which target the mitochondrial pathology of this disease: a study to examine the effects of elamipretide, a cardiolipin targeted agent, and a study to examine the effects of bezafibrate, a peroxisome proliferator‐activated receptor (PPAR) agonist. Treatments to directly target the defective TAFAZZIN pathway are under development, including enzyme and gene therapies.</description><subject>Acyltransferases - genetics</subject><subject>Animals</subject><subject>Barth syndrome</subject><subject>Barth Syndrome - genetics</subject><subject>Barth Syndrome - metabolism</subject><subject>Barth Syndrome - therapy</subject><subject>Bezafibrate</subject><subject>Bezafibrate - therapeutic use</subject><subject>Cardiolipin</subject><subject>Cardiolipins - metabolism</subject><subject>Cardiomyopathies - metabolism</subject><subject>Cardiomyopathies - therapy</subject><subject>Cardiomyopathy</subject><subject>Clinical trials</subject><subject>Clinical Trials as Topic</subject><subject>Diphosphatidylglycerol</subject><subject>Enzyme Therapy</subject><subject>Gene therapy</subject><subject>Genetic Therapy</subject><subject>Hematology</subject><subject>Humans</subject><subject>Metabolism</subject><subject>Mice</subject><subject>Mitochondria</subject><subject>Muscular Diseases - metabolism</subject><subject>Muscular Diseases - therapy</subject><subject>Myopathy</subject><subject>Neutropenia</subject><subject>Neutropenia - metabolism</subject><subject>Neutropenia - therapy</subject><subject>Oligopeptides - therapeutic use</subject><subject>Peroxisome proliferator-activated receptors</subject><subject>Peroxisome Proliferator-Activated Receptors - agonists</subject><subject>TAFAZZIN</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kEtLw0AURgdRbK1u_AEScCNC6jyTGXe1vioVN7oeppk7NCWPOpMg_femTXXhwtWFy-Fw-BA6J3hMMKY3q7y0Y0K5YAdoSETKYpok4hANMeEklkqIAToJYYUxVlKIYzRgPCWMCz5Et9PWe6iayFQ2cm3TeogaD6Ypd8_12tcmW0KIXO2jO-ObZRQ2lfV1CafoyJkiwNn-jtDH48P79Dmevz3NppN5nLFty0JRm1riMsdoAk4IDFwkaZJiKg1V1gBYB1yqLtoZsMoRZmxGnONGLHDGRuiq93Ytny2ERpd5yKAoTAV1GzQVCmMpmcQdevkHXdWtr7o6TRMiU04VTzvquqcyX4fgwem1z0vjN5pgvV1UbxfVu0U7-GKvbBcl2F_0Z8IOID3wlRew-UelX2av9730G_MbgFc</recordid><startdate>202201</startdate><enddate>202201</enddate><creator>Thompson, Reid</creator><creator>Jefferies, John</creator><creator>Wang, Suya</creator><creator>Pu, William T.</creator><creator>Takemoto, Clifford</creator><creator>Hornby, Brittany</creator><creator>Heyman, Andrea</creator><creator>Chin, Michael T.</creator><creator>Vernon, Hilary J.</creator><general>John Wiley & Sons, Inc</general><general>Blackwell Publishing Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>K9.</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-9940-9866</orcidid></search><sort><creationdate>202201</creationdate><title>Current and future treatment approaches for Barth syndrome</title><author>Thompson, Reid ; Jefferies, John ; Wang, Suya ; Pu, William T. ; Takemoto, Clifford ; Hornby, Brittany ; Heyman, Andrea ; Chin, Michael T. ; Vernon, Hilary J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3573-b92d7d1fcf326ef550e456767028a29daeedfe489266faed9f13adc1ff4a5b0c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Acyltransferases - genetics</topic><topic>Animals</topic><topic>Barth syndrome</topic><topic>Barth Syndrome - genetics</topic><topic>Barth Syndrome - metabolism</topic><topic>Barth Syndrome - therapy</topic><topic>Bezafibrate</topic><topic>Bezafibrate - therapeutic use</topic><topic>Cardiolipin</topic><topic>Cardiolipins - metabolism</topic><topic>Cardiomyopathies - metabolism</topic><topic>Cardiomyopathies - therapy</topic><topic>Cardiomyopathy</topic><topic>Clinical trials</topic><topic>Clinical Trials as Topic</topic><topic>Diphosphatidylglycerol</topic><topic>Enzyme Therapy</topic><topic>Gene therapy</topic><topic>Genetic Therapy</topic><topic>Hematology</topic><topic>Humans</topic><topic>Metabolism</topic><topic>Mice</topic><topic>Mitochondria</topic><topic>Muscular Diseases - metabolism</topic><topic>Muscular Diseases - therapy</topic><topic>Myopathy</topic><topic>Neutropenia</topic><topic>Neutropenia - metabolism</topic><topic>Neutropenia - therapy</topic><topic>Oligopeptides - therapeutic use</topic><topic>Peroxisome proliferator-activated receptors</topic><topic>Peroxisome Proliferator-Activated Receptors - agonists</topic><topic>TAFAZZIN</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Thompson, Reid</creatorcontrib><creatorcontrib>Jefferies, John</creatorcontrib><creatorcontrib>Wang, Suya</creatorcontrib><creatorcontrib>Pu, William T.</creatorcontrib><creatorcontrib>Takemoto, Clifford</creatorcontrib><creatorcontrib>Hornby, Brittany</creatorcontrib><creatorcontrib>Heyman, Andrea</creatorcontrib><creatorcontrib>Chin, Michael T.</creatorcontrib><creatorcontrib>Vernon, Hilary J.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of inherited metabolic disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Thompson, Reid</au><au>Jefferies, John</au><au>Wang, Suya</au><au>Pu, William T.</au><au>Takemoto, Clifford</au><au>Hornby, Brittany</au><au>Heyman, Andrea</au><au>Chin, Michael T.</au><au>Vernon, Hilary J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Current and future treatment approaches for Barth syndrome</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>2022-01</date><risdate>2022</risdate><volume>45</volume><issue>1</issue><spage>17</spage><epage>28</epage><pages>17-28</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><abstract>Barth Syndrome is an X‐linked disorder of mitochondrial cardiolipin metabolism caused by pathogenic variants in TAFAZZIN with pleiotropic effects including cardiomyopathy, neutropenia, growth delay, and skeletal myopathy. Management requires a multidisciplinary approach to the organ‐specific manifestations including specialists from cardiology, hematology, nutrition, physical therapy, genetics, and metabolism. Currently, treatment is centered on management of specific clinical features, and is not targeted toward remediating the underlying biochemical defect. However, two clinical trials have been recently undertaken which target the mitochondrial pathology of this disease: a study to examine the effects of elamipretide, a cardiolipin targeted agent, and a study to examine the effects of bezafibrate, a peroxisome proliferator‐activated receptor (PPAR) agonist. Treatments to directly target the defective TAFAZZIN pathway are under development, including enzyme and gene therapies.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>34713454</pmid><doi>10.1002/jimd.12453</doi><tpages>12</tpages><orcidid>https://orcid.org/0000-0001-9940-9866</orcidid></addata></record> |
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| subjects | Acyltransferases - genetics Animals Barth syndrome Barth Syndrome - genetics Barth Syndrome - metabolism Barth Syndrome - therapy Bezafibrate Bezafibrate - therapeutic use Cardiolipin Cardiolipins - metabolism Cardiomyopathies - metabolism Cardiomyopathies - therapy Cardiomyopathy Clinical trials Clinical Trials as Topic Diphosphatidylglycerol Enzyme Therapy Gene therapy Genetic Therapy Hematology Humans Metabolism Mice Mitochondria Muscular Diseases - metabolism Muscular Diseases - therapy Myopathy Neutropenia Neutropenia - metabolism Neutropenia - therapy Oligopeptides - therapeutic use Peroxisome proliferator-activated receptors Peroxisome Proliferator-Activated Receptors - agonists TAFAZZIN |
| title | Current and future treatment approaches for Barth syndrome |
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