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Intraputaminal Gene Delivery in Two Patients with Aromatic L‐Amino Acid Decarboxylase Deficiency
ABSTRACT Background Aromatic l‐amino acid decarboxylase deficiency (AADCD) is a rare, early‐onset, dyskinetic encephalopathy mostly reflecting a defective synthesis of brain dopamine and serotonin. Intracerebral gene delivery (GD) provided a significant improvement among AADCD patients (mean age, ≤6...
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| Published in: | Movement disorders clinical practice (Hoboken, N.J.) N.J.), 2023-05, Vol.10 (5), p.811-818 |
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| creator | François‐Heude, Marie‐Céline Poulen, Gaetan Flamand Roze, Emmanuel Nguyen Morel, Marie‐Ange Gras, Domitille Roch‐Toreilles, Isabelle Quintard, Adeline Baroux, Gaelle Meyer, Pierre Coubes, Philippe Milesi, Christophe Cambonie, Gilles Baleine, Julien Sola, Chrystelle Delye, Bénédicte Dimopoulou, Evgenia Sanchez, Stéphanie Gasnier, Mathieu Touati, Souad Zamora, Alberto Pontal, Daniel Leboucq, Nicolas Kouyoumdjian, Virginie Lebasnier, Adrien Sanquer, Sylvia Mariano‐Goulart, Denis Roujeau, Thomas Roubertie, Agathe |
| description | ABSTRACT
Background
Aromatic l‐amino acid decarboxylase deficiency (AADCD) is a rare, early‐onset, dyskinetic encephalopathy mostly reflecting a defective synthesis of brain dopamine and serotonin. Intracerebral gene delivery (GD) provided a significant improvement among AADCD patients (mean age, ≤6 years).
Objective
We describe the clinical, biological, and imaging evolution of two AADCD patients ages >10 years after GD.
Methods
Eladocagene exuparvovec, a recombinant adeno‐associated virus containing the human complimentary DNA encoding the AADC enzyme, was administered into bilateral putamen by stereotactic surgery.
Results
Eighteen months after GD, patients showed improvement in motor, cognitive and behavioral function, and in quality of life. Cerebral l‐6‐[18F] fluoro‐3, 4‐dihydroxyphenylalanine uptake was increased at 1 month, persisting at 1 year compared to baseline.
Conclusion
Two patients with a severe form of AADCD had an objective motor and non‐motor benefit from eladocagene exuparvovec injection even when treated after the age of 10 years, as in the seminal study. |
| doi_str_mv | 10.1002/mdc3.13685 |
| format | article |
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Background
Aromatic l‐amino acid decarboxylase deficiency (AADCD) is a rare, early‐onset, dyskinetic encephalopathy mostly reflecting a defective synthesis of brain dopamine and serotonin. Intracerebral gene delivery (GD) provided a significant improvement among AADCD patients (mean age, ≤6 years).
Objective
We describe the clinical, biological, and imaging evolution of two AADCD patients ages >10 years after GD.
Methods
Eladocagene exuparvovec, a recombinant adeno‐associated virus containing the human complimentary DNA encoding the AADC enzyme, was administered into bilateral putamen by stereotactic surgery.
Results
Eighteen months after GD, patients showed improvement in motor, cognitive and behavioral function, and in quality of life. Cerebral l‐6‐[18F] fluoro‐3, 4‐dihydroxyphenylalanine uptake was increased at 1 month, persisting at 1 year compared to baseline.
Conclusion
Two patients with a severe form of AADCD had an objective motor and non‐motor benefit from eladocagene exuparvovec injection even when treated after the age of 10 years, as in the seminal study.</description><identifier>ISSN: 2330-1619</identifier><identifier>EISSN: 2330-1619</identifier><identifier>DOI: 10.1002/mdc3.13685</identifier><identifier>PMID: 37205256</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>AADC deficiency ; Amino acids ; Brief Report ; Brief Reports ; elodecagene exuparvovec ; Gene therapy ; Human health and pathology ; Life Sciences ; Movement disorders ; Neurons and Cognition ; oculogyric crisis ; Surgery</subject><ispartof>Movement disorders clinical practice (Hoboken, N.J.), 2023-05, Vol.10 (5), p.811-818</ispartof><rights>2023 The Authors. published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</rights><rights>2023 The Authors. Movement Disorders Clinical Practice published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</rights><rights>2023. This article is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Attribution</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4835-e9028525307febbefc9c2e0bc9060b2226e1ae48763dfa86a8b9eecb8e0ebd5a3</citedby><cites>FETCH-LOGICAL-c4835-e9028525307febbefc9c2e0bc9060b2226e1ae48763dfa86a8b9eecb8e0ebd5a3</cites><orcidid>0000-0002-8180-4857 ; 0000-0001-5710-7376 ; 0000-0001-7044-2961</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fmdc3.13685$$EPDF$$P50$$Gwiley$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmdc3.13685$$EHTML$$P50$$Gwiley$$Hfree_for_read</linktohtml><link.rule.ids>230,315,733,786,790,891,27957,27958,50923,51032,53827,53829</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37205256$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-04101510$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>François‐Heude, Marie‐Céline</creatorcontrib><creatorcontrib>Poulen, Gaetan</creatorcontrib><creatorcontrib>Flamand Roze, Emmanuel</creatorcontrib><creatorcontrib>Nguyen Morel, Marie‐Ange</creatorcontrib><creatorcontrib>Gras, Domitille</creatorcontrib><creatorcontrib>Roch‐Toreilles, Isabelle</creatorcontrib><creatorcontrib>Quintard, Adeline</creatorcontrib><creatorcontrib>Baroux, Gaelle</creatorcontrib><creatorcontrib>Meyer, Pierre</creatorcontrib><creatorcontrib>Coubes, Philippe</creatorcontrib><creatorcontrib>Milesi, Christophe</creatorcontrib><creatorcontrib>Cambonie, Gilles</creatorcontrib><creatorcontrib>Baleine, Julien</creatorcontrib><creatorcontrib>Sola, Chrystelle</creatorcontrib><creatorcontrib>Delye, Bénédicte</creatorcontrib><creatorcontrib>Dimopoulou, Evgenia</creatorcontrib><creatorcontrib>Sanchez, Stéphanie</creatorcontrib><creatorcontrib>Gasnier, Mathieu</creatorcontrib><creatorcontrib>Touati, Souad</creatorcontrib><creatorcontrib>Zamora, Alberto</creatorcontrib><creatorcontrib>Pontal, Daniel</creatorcontrib><creatorcontrib>Leboucq, Nicolas</creatorcontrib><creatorcontrib>Kouyoumdjian, Virginie</creatorcontrib><creatorcontrib>Lebasnier, Adrien</creatorcontrib><creatorcontrib>Sanquer, Sylvia</creatorcontrib><creatorcontrib>Mariano‐Goulart, Denis</creatorcontrib><creatorcontrib>Roujeau, Thomas</creatorcontrib><creatorcontrib>Roubertie, Agathe</creatorcontrib><title>Intraputaminal Gene Delivery in Two Patients with Aromatic L‐Amino Acid Decarboxylase Deficiency</title><title>Movement disorders clinical practice (Hoboken, N.J.)</title><addtitle>Mov Disord Clin Pract</addtitle><description>ABSTRACT
Background
Aromatic l‐amino acid decarboxylase deficiency (AADCD) is a rare, early‐onset, dyskinetic encephalopathy mostly reflecting a defective synthesis of brain dopamine and serotonin. Intracerebral gene delivery (GD) provided a significant improvement among AADCD patients (mean age, ≤6 years).
Objective
We describe the clinical, biological, and imaging evolution of two AADCD patients ages >10 years after GD.
Methods
Eladocagene exuparvovec, a recombinant adeno‐associated virus containing the human complimentary DNA encoding the AADC enzyme, was administered into bilateral putamen by stereotactic surgery.
Results
Eighteen months after GD, patients showed improvement in motor, cognitive and behavioral function, and in quality of life. Cerebral l‐6‐[18F] fluoro‐3, 4‐dihydroxyphenylalanine uptake was increased at 1 month, persisting at 1 year compared to baseline.
Conclusion
Two patients with a severe form of AADCD had an objective motor and non‐motor benefit from eladocagene exuparvovec injection even when treated after the age of 10 years, as in the seminal study.</description><subject>AADC deficiency</subject><subject>Amino acids</subject><subject>Brief Report</subject><subject>Brief Reports</subject><subject>elodecagene exuparvovec</subject><subject>Gene therapy</subject><subject>Human health and pathology</subject><subject>Life Sciences</subject><subject>Movement disorders</subject><subject>Neurons and Cognition</subject><subject>oculogyric crisis</subject><subject>Surgery</subject><issn>2330-1619</issn><issn>2330-1619</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>WIN</sourceid><recordid>eNp9kc1O3DAUhaOqVUGUTR-gitRNQRp6befHWVXRQAFpECzo2rKdm45REk_tZKbZ9RH6jH2SOgQQZdGV7evvHN_rE0XvCZwQAPq5rTQ7ISzj6atonzIGC5KR4vWz_V506P0dABCaZkDJ22iP5RTScNqP1GXXO7kZetmaTjbxOXYYn2JjtujG2HTx7c7GN7I32PU-3pl-HZfOtqGg49WfX7_LILNxqU0VVFo6ZX-OjfSTR210UOnxXfSmlo3Hw4f1IPr29ex2ebFYXZ9fLsvVQiecpQssgPLQFIO8RqWw1oWmCEoXkIGilGZIJCY8z1hVS55JrgpErTgCqiqV7CD6MvtuBtVipXGarBEbZ1rpRmGlEf_edGYtvtutIEB4DlAEh6PZYf1Cd1GuxFSDJLApgS0J7KeH15z9MaDvRWu8xqaRHdrBC8pJlme0IDygH1-gd3Zw4bfvKcaTIilYoI5nSjvrvcP6qQMCYopaTFGL-6gD_OH5rE_oY7ABIDOwMw2O_7ESV6dLNpv-BSahtBc</recordid><startdate>202305</startdate><enddate>202305</enddate><creator>François‐Heude, Marie‐Céline</creator><creator>Poulen, Gaetan</creator><creator>Flamand Roze, Emmanuel</creator><creator>Nguyen Morel, Marie‐Ange</creator><creator>Gras, Domitille</creator><creator>Roch‐Toreilles, Isabelle</creator><creator>Quintard, Adeline</creator><creator>Baroux, Gaelle</creator><creator>Meyer, Pierre</creator><creator>Coubes, Philippe</creator><creator>Milesi, Christophe</creator><creator>Cambonie, Gilles</creator><creator>Baleine, Julien</creator><creator>Sola, Chrystelle</creator><creator>Delye, Bénédicte</creator><creator>Dimopoulou, Evgenia</creator><creator>Sanchez, Stéphanie</creator><creator>Gasnier, Mathieu</creator><creator>Touati, Souad</creator><creator>Zamora, Alberto</creator><creator>Pontal, Daniel</creator><creator>Leboucq, Nicolas</creator><creator>Kouyoumdjian, Virginie</creator><creator>Lebasnier, Adrien</creator><creator>Sanquer, Sylvia</creator><creator>Mariano‐Goulart, Denis</creator><creator>Roujeau, Thomas</creator><creator>Roubertie, Agathe</creator><general>John Wiley & Sons, Inc</general><general>Wiley Subscription Services, Inc</general><general>Wiley</general><scope>24P</scope><scope>WIN</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>K9.</scope><scope>7X8</scope><scope>1XC</scope><scope>VOOES</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-8180-4857</orcidid><orcidid>https://orcid.org/0000-0001-5710-7376</orcidid><orcidid>https://orcid.org/0000-0001-7044-2961</orcidid></search><sort><creationdate>202305</creationdate><title>Intraputaminal Gene Delivery in Two Patients with Aromatic L‐Amino Acid Decarboxylase Deficiency</title><author>François‐Heude, Marie‐Céline ; Poulen, Gaetan ; Flamand Roze, Emmanuel ; Nguyen Morel, Marie‐Ange ; Gras, Domitille ; Roch‐Toreilles, Isabelle ; Quintard, Adeline ; Baroux, Gaelle ; Meyer, Pierre ; Coubes, Philippe ; Milesi, Christophe ; Cambonie, Gilles ; Baleine, Julien ; Sola, Chrystelle ; Delye, Bénédicte ; Dimopoulou, Evgenia ; Sanchez, Stéphanie ; Gasnier, Mathieu ; Touati, Souad ; Zamora, Alberto ; Pontal, Daniel ; Leboucq, Nicolas ; Kouyoumdjian, Virginie ; Lebasnier, Adrien ; Sanquer, Sylvia ; Mariano‐Goulart, Denis ; Roujeau, Thomas ; Roubertie, Agathe</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4835-e9028525307febbefc9c2e0bc9060b2226e1ae48763dfa86a8b9eecb8e0ebd5a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>AADC deficiency</topic><topic>Amino acids</topic><topic>Brief Report</topic><topic>Brief Reports</topic><topic>elodecagene exuparvovec</topic><topic>Gene therapy</topic><topic>Human health and pathology</topic><topic>Life Sciences</topic><topic>Movement disorders</topic><topic>Neurons and Cognition</topic><topic>oculogyric crisis</topic><topic>Surgery</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>François‐Heude, Marie‐Céline</creatorcontrib><creatorcontrib>Poulen, Gaetan</creatorcontrib><creatorcontrib>Flamand Roze, Emmanuel</creatorcontrib><creatorcontrib>Nguyen Morel, Marie‐Ange</creatorcontrib><creatorcontrib>Gras, Domitille</creatorcontrib><creatorcontrib>Roch‐Toreilles, Isabelle</creatorcontrib><creatorcontrib>Quintard, Adeline</creatorcontrib><creatorcontrib>Baroux, Gaelle</creatorcontrib><creatorcontrib>Meyer, Pierre</creatorcontrib><creatorcontrib>Coubes, Philippe</creatorcontrib><creatorcontrib>Milesi, Christophe</creatorcontrib><creatorcontrib>Cambonie, Gilles</creatorcontrib><creatorcontrib>Baleine, Julien</creatorcontrib><creatorcontrib>Sola, Chrystelle</creatorcontrib><creatorcontrib>Delye, Bénédicte</creatorcontrib><creatorcontrib>Dimopoulou, Evgenia</creatorcontrib><creatorcontrib>Sanchez, Stéphanie</creatorcontrib><creatorcontrib>Gasnier, Mathieu</creatorcontrib><creatorcontrib>Touati, Souad</creatorcontrib><creatorcontrib>Zamora, Alberto</creatorcontrib><creatorcontrib>Pontal, Daniel</creatorcontrib><creatorcontrib>Leboucq, Nicolas</creatorcontrib><creatorcontrib>Kouyoumdjian, Virginie</creatorcontrib><creatorcontrib>Lebasnier, Adrien</creatorcontrib><creatorcontrib>Sanquer, Sylvia</creatorcontrib><creatorcontrib>Mariano‐Goulart, Denis</creatorcontrib><creatorcontrib>Roujeau, Thomas</creatorcontrib><creatorcontrib>Roubertie, Agathe</creatorcontrib><collection>Wiley Online Library Open Access</collection><collection>Wiley Online Library Free Content</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><collection>Hyper Article en Ligne (HAL) (Open Access)</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Movement disorders clinical practice (Hoboken, N.J.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>François‐Heude, Marie‐Céline</au><au>Poulen, Gaetan</au><au>Flamand Roze, Emmanuel</au><au>Nguyen Morel, Marie‐Ange</au><au>Gras, Domitille</au><au>Roch‐Toreilles, Isabelle</au><au>Quintard, Adeline</au><au>Baroux, Gaelle</au><au>Meyer, Pierre</au><au>Coubes, Philippe</au><au>Milesi, Christophe</au><au>Cambonie, Gilles</au><au>Baleine, Julien</au><au>Sola, Chrystelle</au><au>Delye, Bénédicte</au><au>Dimopoulou, Evgenia</au><au>Sanchez, Stéphanie</au><au>Gasnier, Mathieu</au><au>Touati, Souad</au><au>Zamora, Alberto</au><au>Pontal, Daniel</au><au>Leboucq, Nicolas</au><au>Kouyoumdjian, Virginie</au><au>Lebasnier, Adrien</au><au>Sanquer, Sylvia</au><au>Mariano‐Goulart, Denis</au><au>Roujeau, Thomas</au><au>Roubertie, Agathe</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Intraputaminal Gene Delivery in Two Patients with Aromatic L‐Amino Acid Decarboxylase Deficiency</atitle><jtitle>Movement disorders clinical practice (Hoboken, N.J.)</jtitle><addtitle>Mov Disord Clin Pract</addtitle><date>2023-05</date><risdate>2023</risdate><volume>10</volume><issue>5</issue><spage>811</spage><epage>818</epage><pages>811-818</pages><issn>2330-1619</issn><eissn>2330-1619</eissn><notes>Relevant disclosures and conflict of interest are listed at the end of this article.</notes><notes>Marie‐Céline François‐Heude, Gaetan Poulen, Thomas Roujeau and Agathe Roubertie Contributed equally to this work.</notes><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><notes>PMCID: PMC10187009</notes><abstract>ABSTRACT
Background
Aromatic l‐amino acid decarboxylase deficiency (AADCD) is a rare, early‐onset, dyskinetic encephalopathy mostly reflecting a defective synthesis of brain dopamine and serotonin. Intracerebral gene delivery (GD) provided a significant improvement among AADCD patients (mean age, ≤6 years).
Objective
We describe the clinical, biological, and imaging evolution of two AADCD patients ages >10 years after GD.
Methods
Eladocagene exuparvovec, a recombinant adeno‐associated virus containing the human complimentary DNA encoding the AADC enzyme, was administered into bilateral putamen by stereotactic surgery.
Results
Eighteen months after GD, patients showed improvement in motor, cognitive and behavioral function, and in quality of life. Cerebral l‐6‐[18F] fluoro‐3, 4‐dihydroxyphenylalanine uptake was increased at 1 month, persisting at 1 year compared to baseline.
Conclusion
Two patients with a severe form of AADCD had an objective motor and non‐motor benefit from eladocagene exuparvovec injection even when treated after the age of 10 years, as in the seminal study.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>37205256</pmid><doi>10.1002/mdc3.13685</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0002-8180-4857</orcidid><orcidid>https://orcid.org/0000-0001-5710-7376</orcidid><orcidid>https://orcid.org/0000-0001-7044-2961</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | Movement disorders clinical practice (Hoboken, N.J.), 2023-05, Vol.10 (5), p.811-818 |
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| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10187009 |
| source | Wiley; PubMed Central |
| subjects | AADC deficiency Amino acids Brief Report Brief Reports elodecagene exuparvovec Gene therapy Human health and pathology Life Sciences Movement disorders Neurons and Cognition oculogyric crisis Surgery |
| title | Intraputaminal Gene Delivery in Two Patients with Aromatic L‐Amino Acid Decarboxylase Deficiency |
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