A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript “single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1” written by pechmann and colleagues”

Sansone, Valeria; Pane, Marika; Messina, Sonia; Bruno, Claudio; D’Amico, Adele; Albamonte, Emilio; Catteruccia, Michela; Sframeli, Maria; Pedemonte, Marina; Vita, Giuseppe; Bertini, Enrico

doi:10.1016/j.ejpn.2018.02.004

Cited by 5 publications

(1 citation statement)

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“…The SMA registry has also been queried for a survey on respiratory care in Italy developed by the Italian SMA POs together with clinical experts [ 29 ]. Moreover, the Curator informed families of children with SMA1 when the Expanded Access Program supported by Biogen Idec of the new therapeutic product Spinraza became available [ 30 , 31 ].…”

Section: Resultsmentioning

confidence: 99%

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

Ambrosini

Calabrese

Avato

et al. 2018

Orphanet J Rare Dis

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BackgroundThe worldwide landscape of patient registries in the neuromuscular disease (NMD) field has significantly changed in the last 10 years, with the international TREAT-NMD network acting as strong driver. At the same time, the European Medicines Agency and the large federations of rare disease patient organizations (POs), such as EURORDIS, contributed to a great cultural change, by promoting a paradigm shift from product-registries to patient-centred registries. In Italy, several NMD POs and Fondazione Telethon undertook the development of a TREAT-NMD linked patient registry in 2009, with the referring clinical network providing input and support to this initiative through the years. This article describes the outcome of this joint effort and shares the experience gained.MethodsThe Italian NMD registry is based on an informatics technology platform, structured according to the most rigorous legal national and European requirements for management of patient sensitive data. A user-friendly web interface allows both direct patients and clinicians’ participation. The platform’s design permits expansion to incorporate new modules and new registries, and is suitable of interoperability with other international efforts.ResultsWhen the Italian NMD Registry was initiated, an ad hoc legal entity (NMD Registry Association) was devised to manage registries’ data. Currently, several disease-specific databases are hosted on the platform. They collect molecular and clinical details of individuals affected by Duchenne or Becker muscular dystrophy, Charcot-Marie-Tooth disease, transthyretin type-familial amyloidotic polyneuropathy, muscle glycogen storage disorders, spinal and bulbar muscular atrophy, and spinal muscular atrophy. These disease-specific registries are at different stage of development, and the NMD Registry itself has gone through several implementation steps to fulfil different technical and governance needs. The new governance model is based on the agreement between the NMD Registry Association and the professional societies representing the Italian NMD clinical network. Overall, up to now the NMD registry has collected data on more than 2000 individuals living with a NMD condition.ConclusionsThe Italian NMD Registry is a flexible platform that manages several condition-specific databases and is suitable to upgrade. All stakeholders participate in its management, with clear roles and responsibilities. This governance model has been key to its success. In fact, it favored patient empowerment and their direct participation in research, while also engaging the expert clinicians of the Italian network in the collection of accurate clinical data according to the best clinical practices.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0918-z) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

Ambrosini

Calabrese

Avato

et al. 2018

Orphanet J Rare Dis

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Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center

et al. 2018

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Nusinersen is the first approved drug to treat spinal muscular atrophy (SMA). Its periodic intrathecal delivery may cause psychological burden in infants and in their parents. We report our experience during expanded access program (EAP) for type 1 SMA in a single Italian center. Because of the occurrence of stress emotional states, anxious reactions and fear before, during, and after lumbar puncture (LP), a specific psychological intervention was implemented based on regulation of emotions, anticipatory expectations, and post-event attributions. Activities included the use of fairy tales, distraction, music play through listening preferred cartoon themes in the youngest children, and contextual games and solution of fun riddle quizzes in the oldest ones. State anxiety greatly reduced in children and their parents. Treatment of psychological aspects should therefore become an integral part of health care in SMA infants and children during Nusinersen treatment.

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Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care

et al. 2018

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Cited by 5 publications

References 1 publication

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center

Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care

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