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A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).

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Title: A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).
Authors: Sevagamoorthy A; Neurology Department, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: sevagamooa@chop.edu., Gavazzi F; Neurology Department, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, University of Pennsylvania, Philadelphia, Philadelphia, PA, USA. Electronic address: gavazzif@chop.edu., Tashnim Z; Neurology Department, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: tashnimz@chop.edu., Hong P; Neurology Department, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: hongp@chop.edu., Vaia Y; Neurology Department, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Neuroscience research center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy. Electronic address: ylenia.vaia@unimi.it., Lee-Kirsch MA; Department of Pediatrics, University Hospital and Medical Faculty Carl Gustav Carus, Dresden University of Technology, Dresden, Germany; University Center for Rare Diseases, University Hospital and Medical Faculty Carl Gustav Carus, Dresden University of Technology, Dresden, Germany; German Center for Child and Adolescent Health (DZKJ), partner site Leipzig/Dresden, Germany. Electronic address: minae.lee-kirsch@uniklinikum-dresden.de., Eleftheriou D; Department of Infection, Immunity & Inflammation, University College London and Great Ormond Street Hospital London, UK. Electronic address: d.eleftheriou@ucl.ac.uk., Beerepoot S; Division of Child Neurology, VUmc, Amsterdam, Netherlands. Electronic address: s.beerepoot@amsterdamumc.nl., Hully M; Department of Pediatric Neurology, Necker Hospital, APHP Centre Paris, France. Electronic address: marie.hully@aphp.fr., Berry Kravis EM; Department of Pediatrics, Rush University, IL, USA. Electronic address: elizabeth_berry-kravis@rush.edu., Ventola P; Child Study Center, Yale School of Medicine, CT, USA. Electronic address: pamela.ventola@yale.edu., Raspa M; RTI International, NC, USA. Electronic address: mraspa@rti.org., Wheeler A; RTI International, NC, USA. Electronic address: acwheeler@rti.org., DeMauro SB; Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: demauro@chop.edu., Glanzman AM; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: GLANZMANA@chop.edu., Townsend E; MGH Institute of Health Professions, Boston, MA, USA. Electronic address: etownsend@mghihp.edu., Duong T; Stanford Medicine, CA, USA. Electronic address: trduong@stanford.edu., Cusack S; Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: CusackS@chop.edu., Harrington AT; Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: harringtona1@chop.edu., Pierce S; Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: PIERCES1@chop.edu., Fitzgerald M; Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: fitzgeram3@chop.edu., Fazzi E; Department of Clinical and Experimental Sciences, University of Brescia, Italy; Child Neurology and Psychiatry Unit, ASST Spedali Civili of Brescia, Italy. Electronic address: elisa.fazzi@unibs.it., Galli J; Department of Clinical and Experimental Sciences, University of Brescia, Italy; Child Neurology and Psychiatry Unit, ASST Spedali Civili of Brescia, Italy. Electronic address: Jessica.galli@unibs.it., Orcesi S; Department of Brain and Behavioral Sciences, University of Pavia, Italy; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy. Electronic address: simona.orcesi@mondino.it., Tonduti D; Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Italy. Electronic address: davide.tonduti@asst-fbf-sacco.it., Wassmer E; Neurology Department, Birmingham Children's Hospital, Institute of Health and Neurodevelopment, Aston University, Birmingham, UK. Electronic address: ewassmer@nhs.net., Cordova D; Aicardi-Goutières Syndrome Advocacy Association (ASGAA), USA. Electronic address: devon.cordova@agsaa.org., Adang LA; Neurology Department, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: adangl@chop.edu., Butts C; Biogen, Cambridge, MA, USA. Electronic address: cherie.butts@biogen.com., Vanderver A; Neurology Department, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: vandervera@chop.edu.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Mar; Vol. 147 (3), pp. 109765. Date of Electronic Publication: 2026 Feb 08.
Publication Type: Journal Article
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
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  Data: A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).
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  Data: <searchLink fieldCode="AU" term="%22Sevagamoorthy+A%22">Sevagamoorthy A</searchLink>; Neurology Department, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: sevagamooa@chop.edu.<br /><searchLink fieldCode="AU" term="%22Gavazzi+F%22">Gavazzi F</searchLink>; Neurology Department, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, University of Pennsylvania, Philadelphia, Philadelphia, PA, USA. Electronic address: gavazzif@chop.edu.<br /><searchLink fieldCode="AU" term="%22Tashnim+Z%22">Tashnim Z</searchLink>; Neurology Department, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: tashnimz@chop.edu.<br /><searchLink fieldCode="AU" term="%22Hong+P%22">Hong P</searchLink>; Neurology Department, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: hongp@chop.edu.<br /><searchLink fieldCode="AU" term="%22Vaia+Y%22">Vaia Y</searchLink>; Neurology Department, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Neuroscience research center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy. Electronic address: ylenia.vaia@unimi.it.<br /><searchLink fieldCode="AU" term="%22Lee-Kirsch+MA%22">Lee-Kirsch MA</searchLink>; Department of Pediatrics, University Hospital and Medical Faculty Carl Gustav Carus, Dresden University of Technology, Dresden, Germany; University Center for Rare Diseases, University Hospital and Medical Faculty Carl Gustav Carus, Dresden University of Technology, Dresden, Germany; German Center for Child and Adolescent Health (DZKJ), partner site Leipzig/Dresden, Germany. Electronic address: minae.lee-kirsch@uniklinikum-dresden.de.<br /><searchLink fieldCode="AU" term="%22Eleftheriou+D%22">Eleftheriou D</searchLink>; Department of Infection, Immunity & Inflammation, University College London and Great Ormond Street Hospital London, UK. Electronic address: d.eleftheriou@ucl.ac.uk.<br /><searchLink fieldCode="AU" term="%22Beerepoot+S%22">Beerepoot S</searchLink>; Division of Child Neurology, VUmc, Amsterdam, Netherlands. Electronic address: s.beerepoot@amsterdamumc.nl.<br /><searchLink fieldCode="AU" term="%22Hully+M%22">Hully M</searchLink>; Department of Pediatric Neurology, Necker Hospital, APHP Centre Paris, France. Electronic address: marie.hully@aphp.fr.<br /><searchLink fieldCode="AU" term="%22Berry+Kravis+EM%22">Berry Kravis EM</searchLink>; Department of Pediatrics, Rush University, IL, USA. Electronic address: elizabeth_berry-kravis@rush.edu.<br /><searchLink fieldCode="AU" term="%22Ventola+P%22">Ventola P</searchLink>; Child Study Center, Yale School of Medicine, CT, USA. Electronic address: pamela.ventola@yale.edu.<br /><searchLink fieldCode="AU" term="%22Raspa+M%22">Raspa M</searchLink>; RTI International, NC, USA. Electronic address: mraspa@rti.org.<br /><searchLink fieldCode="AU" term="%22Wheeler+A%22">Wheeler A</searchLink>; RTI International, NC, USA. Electronic address: acwheeler@rti.org.<br /><searchLink fieldCode="AU" term="%22DeMauro+SB%22">DeMauro SB</searchLink>; Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: demauro@chop.edu.<br /><searchLink fieldCode="AU" term="%22Glanzman+AM%22">Glanzman AM</searchLink>; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: GLANZMANA@chop.edu.<br /><searchLink fieldCode="AU" term="%22Townsend+E%22">Townsend E</searchLink>; MGH Institute of Health Professions, Boston, MA, USA. Electronic address: etownsend@mghihp.edu.<br /><searchLink fieldCode="AU" term="%22Duong+T%22">Duong T</searchLink>; Stanford Medicine, CA, USA. Electronic address: trduong@stanford.edu.<br /><searchLink fieldCode="AU" term="%22Cusack+S%22">Cusack S</searchLink>; Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: CusackS@chop.edu.<br /><searchLink fieldCode="AU" term="%22Harrington+AT%22">Harrington AT</searchLink>; Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: harringtona1@chop.edu.<br /><searchLink fieldCode="AU" term="%22Pierce+S%22">Pierce S</searchLink>; Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: PIERCES1@chop.edu.<br /><searchLink fieldCode="AU" term="%22Fitzgerald+M%22">Fitzgerald M</searchLink>; Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: fitzgeram3@chop.edu.<br /><searchLink fieldCode="AU" term="%22Fazzi+E%22">Fazzi E</searchLink>; Department of Clinical and Experimental Sciences, University of Brescia, Italy; Child Neurology and Psychiatry Unit, ASST Spedali Civili of Brescia, Italy. Electronic address: elisa.fazzi@unibs.it.<br /><searchLink fieldCode="AU" term="%22Galli+J%22">Galli J</searchLink>; Department of Clinical and Experimental Sciences, University of Brescia, Italy; Child Neurology and Psychiatry Unit, ASST Spedali Civili of Brescia, Italy. Electronic address: Jessica.galli@unibs.it.<br /><searchLink fieldCode="AU" term="%22Orcesi+S%22">Orcesi S</searchLink>; Department of Brain and Behavioral Sciences, University of Pavia, Italy; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy. Electronic address: simona.orcesi@mondino.it.<br /><searchLink fieldCode="AU" term="%22Tonduti+D%22">Tonduti D</searchLink>; Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Italy. Electronic address: davide.tonduti@asst-fbf-sacco.it.<br /><searchLink fieldCode="AU" term="%22Wassmer+E%22">Wassmer E</searchLink>; Neurology Department, Birmingham Children's Hospital, Institute of Health and Neurodevelopment, Aston University, Birmingham, UK. Electronic address: ewassmer@nhs.net.<br /><searchLink fieldCode="AU" term="%22Cordova+D%22">Cordova D</searchLink>; Aicardi-Goutières Syndrome Advocacy Association (ASGAA), USA. Electronic address: devon.cordova@agsaa.org.<br /><searchLink fieldCode="AU" term="%22Adang+LA%22">Adang LA</searchLink>; Neurology Department, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: adangl@chop.edu.<br /><searchLink fieldCode="AU" term="%22Butts+C%22">Butts C</searchLink>; Biogen, Cambridge, MA, USA. Electronic address: cherie.butts@biogen.com.<br /><searchLink fieldCode="AU" term="%22Vanderver+A%22">Vanderver A</searchLink>; Neurology Department, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: vandervera@chop.edu.
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