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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorDomínguez‑González, Cristina
dc.contributor.authorMadruga‑Garrido, Marcos
dc.contributor.authorHirano, Michio
dc.contributor.authorMartí, Itxaso
dc.contributor.authorMartín, Miguel A.
dc.contributor.authorMunell Casadesus, Francina
dc.contributor.authorMartí Seves, Ramón
dc.date.accessioned2022-05-03T13:16:44Z
dc.date.available2022-05-03T13:16:44Z
dc.date.issued2021-10-02
dc.identifier.citationDomínguez-González C, Madruga-Garrido M, Hirano M, Martí I, Martín MA, Munell F, et al. Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency. Orphanet J Rare Dis. 2021 Oct 2;16:407.
dc.identifier.issn1750-1172
dc.identifier.urihttp://hdl.handle.net/11351/7469
dc.descriptionMitochondrial disease; Mitochondrial medicine; Thymidine kinase 2 deficiency (TK2d)
dc.description.abstractBackground Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondrial disease typically experience delays in diagnosis and treatment. Here, we describe a unique collaborative practice model among physicians and scientists in Spain focused on identifying TK2 deficiency (TK2d), an ultra-rare mitochondrial DNA depletion and deletions syndrome. Main Body This collaboration spans research and clinical care, including laboratory scientists, adult and pediatric neuromuscular clinicians, geneticists, and pathologists, and has resulted in diagnosis and consolidation of care for patients with TK2d. The incidence of TK2d is not known; however, the first clinical cases of TK2d were reported in 2001, and only ~ 107 unique cases had been reported as of 2018. This unique collaboration in Spain has led to the diagnosis of more than 30 patients with genetically confirmed TK2d across different regions of the country. Research affiliate centers have led investigative treatment with nucleosides based on understanding of TK2d clinical manifestations and disease mechanisms, which resulted in successful treatment of a TK2d mouse model with nucleotide therapy in 2010. Only 1 year later, this collaboration enabled rapid adoption of treatment with pyrimidine nucleotides (and later, nucleosides) under compassionate use. Success in TK2d diagnosis and treatment in Spain is attributable to two important factors: Spain’s fully public national healthcare system, and the designation in 2015 of major National Reference Centers for Neuromuscular Disorders (CSURs). CSUR networking and dissemination facilitated development of a collaborative care network for TK2d disease, wherein participants share information and protocols to request approval from the Ministry of Health to initiate nucleoside therapy. Data have recently been collected in a retrospective study conducted under a Good Clinical Practice–compliant protocol to support development of a new therapeutic approach for TK2d, a progressive disease with no approved therapies. Conclusions The Spanish experience in diagnosis and treatment of TK2d is a model for the diagnosis and development of new treatments for very rare diseases within an existing healthcare system.
dc.language.isoeng
dc.publisherBMC
dc.relation.ispartofseriesOrphanet Journal of Rare Diseases;16
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectMalalties rares - Diagnòstic
dc.subjectMalalties rares - Tractament
dc.subject.meshRare Diseases
dc.subject.mesh/diagnosis
dc.subject.meshThymidine Kinase
dc.subject.mesh/deficiency
dc.titleCollaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1186/s13023-021-02030-w
dc.subject.decsenfermedades raras
dc.subject.decs/diagnóstico
dc.subject.decstimidina cinasa
dc.subject.decs/deficiencia
dc.relation.publishversionhttps://doi.org/10.1186/s13023-021-02030-w
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Domínguez-González C] Neuromuscular Disorders Unit, Neurology Department, Hospital 12 de Octubre, Madrid, Spain. Instituto de Investigación imas12, Hospital 12 de Octubre, Madrid, Spain. Center for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. [Madruga-Garrido M] Pediatric Neurology Department, Hospital U. Virgen del Rocío, Seville, Spain. [Hirano M] Neurology Department, H. Houston Merritt Center, Columbia University Irving Medical Center, New York, NY, USA. [Martí I] Pediatric Department, Donostia University Hospital, Biodonostia Health Research Institute, University of the Basque Country, San Sebastián, Spain. [Martín MA] Center for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Mitochondrial Diseases Laboratory, Department of Biochemistry, Research Institute Hospital 12 de Octubre (imas12), Madrid, Spain. [Munell F] Servei de Pediatria, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Martí R] Center for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Grup de Recerca en Patologia Neuromuscular i Mitocondrial, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain
dc.identifier.pmid34600563
dc.identifier.wos000702781900004
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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