Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a qualitative study.

Autor: de Lemus M; Fundación Atrofia Muscular Espinal (FundAME), Calle Nuria 93, 1ºC, Madrid, 28034, Spain.; SMA-Europe, Freiburg, Germany.; Committee of Advanced Therapies at the European Medicines Agency, London, UK., Cattinari MG; Fundación Atrofia Muscular Espinal (FundAME), Calle Nuria 93, 1ºC, Madrid, 28034, Spain. cattinari@fundame.net., Pascual SI; Department of Neurology, Hospital Universitario La Paz - Madrid, Madrid, Spain., Medina J; Rehabilitation and Physical Unit Department, Hospital Sant Joan de Déu, Barcelona, Spain., García M; Department of Neurology, Hospital Universitario La Paz - Madrid, Madrid, Spain., Magallón A; Imfisio, Madrid, Spain., Dumont M; Fundación Atrofia Muscular Espinal (FundAME), Calle Nuria 93, 1ºC, Madrid, 28034, Spain., Rebollo P; IQVIA, Madrid, Spain.

Publikováno v: Journal of patient-reported outcomes [J Patient Rep Outcomes] 2024 Jul 24; Vol. 8 (1), pp. 78. Date of Electronic Publication: 2024 Jul 24.

Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study.

Autor: Vázquez-Costa JF; Neuromuscular Unit, Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain.; Department of Medicine, University of Valencia, Valencia, Spain., Branas-Pampillón M; Medical Department, Roche Farma, Ribera del Loira, 50, 28042), Madrid, Spain. maria.branas_pampillon@roche.com., Medina-Cantillo J; Rehabilitation and Physical Unit Department, Hospital Sant Joan de Deu, Barcelona, Spain., Povedano M; Department of Neurology, IDIBELL, Hospital de Bellvitge, Barcelona, Spain., Pitarch-Castellano I; Child Neurology Unit, Department of Pediatrics, Hospital Universitari I Politècnic La Fe, Valencia, Spain., López-Lobato M; Neuromuscular Research Unit, Department of Pediatric Neurology, Hospital Universitario Virgen del Rocío, Universidad de Sevilla, Seville, Spain., Fernández-Ramos JA; Child Neurology Unit, Department of Pediatrics, Hospital Universitario Reina Sofía, Córdoba, Spain., Lafuente-Hidalgo M; Child Neurology Unit, Department of Pediatrics, Hospital Universitario Miguel Servet, Saragossa, Spain., Rojas-García R; Neuromuscular Diseases Unit, Department of Neurology, Hospital de La Santa Creu I Sant Pau, Barcelona, Spain., Caballero-Caballero JM; Department of Child Neurology, Hospital Universitario La Paz, Madrid, Spain., Málaga I; Child Neurology Unit, Hospital Universitario Central de Asturias, Oviedo, Spain., Eirís-Puñal J; Department of Pediatric Neurology, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain., De Lemus M; Fundacion Atrofia Muscular Espinal España (FundAME), Madrid, Spain., Cattinari MG; Fundacion Atrofia Muscular Espinal España (FundAME), Madrid, Spain., Cabello-Moruno R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain., Díaz-Abós P; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain., Sánchez-Menéndez V; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain., Rebollo P; IQVIA, Madrid, Spain., Maurino J; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain., Madruga-Garrido M; Hospital Viamed Santa Ángela de La Cruz, Seville, Spain.

Publikováno v: Neurology and therapy [Neurol Ther] 2023 Feb; Vol. 12 (1), pp. 89-105. Date of Electronic Publication: 2022 Oct 21.

The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era.

Autor: Rovira-Moreno E; Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, University Hospital Vall d'Hebron, Barcelona, Spain.; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516]., Abulí A; Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, University Hospital Vall d'Hebron, Barcelona, Spain.; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516]., Muñoz-Cabello P; Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, University Hospital Vall d'Hebron, Barcelona, Spain.; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516]., Codina-Solà M; Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, University Hospital Vall d'Hebron, Barcelona, Spain.; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516]., Baillès E; Department of Psychiatry, University Hospital Vall d'Hebron, Barcelona, Spain., de Lemus M; Patient Representative, Head of FundAME, Spain & Delegate of SMA Europe e. V., Freiburg, Germany., Darras BT; Department of Neurology, Neuromuscular Program, Boston Children's Hospital, Harvard Medical School, Boston, MA., Tizzano EF; Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, University Hospital Vall d'Hebron, Barcelona, Spain.; Member of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516].

Publikováno v: Genetics in medicine open [Genet Med Open] 2023 Jul 05; Vol. 1 (1), pp. 100825. Date of Electronic Publication: 2023 Jul 05 (Print Publication: 2023).

VP.55 Fatigue, pain, breathing, voice, fatigability, sleep, rest and vulnerability as meaningful outcomes in SMA care: the patients´ and caregivers' voice

Autor: Povedano, M., Vázquez-Costa, J., Pitarch, I., López-Lobato, M., Medina, J., Fernández-Ramos, J., Lafuente-Hidalgo, M., Rojas-García, R., Caballero-Caballero, J., Málaga, I., Eirís, J., De Lemus, M., Cattinari, M., Madruga-Garrido, M., Branas, M., Cabello-Moruno, R., Díaz-Abós, P., Terrancle, A., Maurino, J., Rebollo, P.

Publikováno v: In Neuromuscular Disorders October 2022 32 Supplement 1:S92-S92

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands

Autor: Finkel, R, Bertini, Enrico Silvio, Muntoni, F, Mercuri, Eugenio Maria, Chen, K, Kirschner, J, De Lemus, M, Hogrel, Jy, Khwaja, O, Main, M, Mazzone, E, Montes, J, Ramsey, D, Sejersen, T, Sumner, C, Swoboda, K, Tiziano, Francesco Danilo, Tseng, B, Van Der Pol, L, Villerot, C, Wirth, B, Witchen, A, Yeh, Ws, Zittersteijn, A.

Publikováno v: Neuromuscular Disorders. 25:593-602

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands Richard Finkel *, Enrico Bertini , Francesco Muntoni , Eugenio Mercuri d on behalf of the ENMC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f07d0924613f8ed69841ba19d6a7dfb9
https://doi.org/10.1016/j.nmd.2015.04.009