RESUMEN

Dravet syndrome, a developmental and epileptic encephalopathy, manifests with varying degrees of cognitive and communication impairment, postural and movement disorders (such as ataxia, coordination issues, and crouch gait) and behavioural challenges (including attention deficit/hyperactivity, oppositional/defiant behaviour, and autistic traits). Rehabilitation is a valuable tool for most patients, typically prescribed to address the most pressing issues. However, current practices often fall short in proactively preventing and treating known challenges associated with the syndrome, as indicated by the latest literature, at different life stages. Furthermore, there is a notable lack of evidence regarding treatment types and efficacy specific to people with Dravet Syndrome. Conducted in collaboration with one of the Italian Patient associations, this national survey provides a comprehensive view of the rehabilitation landscape in Dravet Syndrome, as perceived by caregivers. It outlines the types of treatments for 51 patients, based on age and relevant clinical features. The findings reveal a heterogenous rehabilitation approach, only partly tailored to the presence of specific comorbidities, and underline numerous unmet needs. Compared to the past there is indirect evidence that more patients are offered early rehabilitation. Nonetheless, while nowadays speech therapy and neuropsychomotor therapy are nearly universal for children up to the age of 10, some begin physiotherapy and psychotherapy thereafter, with a majority discontinuing treatments. Therefore, families of adolescent and adult patients often face a lack of comprehensive support, predominantly offered when epilepsy is more challenging to control affecting rehabilitation adherence and effectiveness. Finally, a negligible minority is offered treatments such as neurovisual training, augmentative and alternative communication, and occupational therapy. Many of these considerations could apply to other developmental and epileptic encephalopathy with lifelong disability. This survey calls for more data collection on this important topic for more efficient allocation of rehabilitation resources.

Asunto(s)

Epilepsias Mioclónicas , Humanos , Epilepsias Mioclónicas/rehabilitación , Italia , Adolescente , Niño , Adulto , Femenino , Preescolar , Masculino , Adulto Joven , Lactante , Encuestas y Cuestionarios

RESUMEN

The discussion concerning the measure of the quality of a biobank should focus not only on the number of stored samples and their quality but also on the assessment of their access arrangements and governance. This article aims at contributing to the ongoing debate on samples and data access governance in biobanking by presenting the case of the Telethon Network of Genetic Biobanks (TNGB). We attempt to contribute to the need for clear and available access criteria and harmonization in access arrangements to maximize the influence of biobanks in the progress of biomedical research. We reviewed all the sample requests submitted to the TNGB from 2008 to 2020, focusing on those rejected by the Access Committee and the reasons behind the rejections. The analysis of the reasons behind the rejected requests allowed us to analyze how those relate to the issues of scientific misconduct, prioritization, and noncompliance with the biobank's mission. We discuss those issues in light of the actions and motivations used by TNGB in the access decision-making process. Based on this analysis, we suggest that a cross-implementation of a checklist for access assessment would improve the whole access process, ensuring a more transparent and smoother governance. Finally, we conclude that the TNGB's Charter and approach toward access governance could contribute as an important reference point to deal with the issues that have emerged in the international discussion on the topic.

Asunto(s)

Bancos de Muestras Biológicas , Investigación Biomédica

RESUMEN

This paper presents the results of a qualitative study based on semi-structured interviews of 10 expert patient advocates on several different issues around Advanced Therapy Medicinal Products (ATMPs). The interviews were conducted between February and May 2020 based on a guideline with a list of 8 topics that covered concerns about safety and ethics, access problems and limitations, pricing of ATMPs and educational needs for patient communities. Overall, the interviewees expressed a high degree of convergence of opinions on most of the topics and especially on the identification of the reasons for concern. Conversely, when asked about possible solutions, quite a wide range of solutions were proposed, although with many common points. However, it highlights that the debate is still in its infancy and that there are not yet consolidated positions across the whole community. A general concern emerging from all the interviews is the potential limitation of access to approved ATMPs, both due to the high prices and to the geographical concentration of treatment centers. However, patients recognize the value of a model with a limited number of specialized clinical centers administering these therapies. On the ethical side, patients do not show particular concern as long as ATMPs and the underlying technology is used to treat severe diseases. Finally, patients are asking for both more education on ATMPs as well as for a more continuous involvement of patient representatives in the whole "life-cycle" of a new ATMP, from the development phase to the authorization, from the definition of the reimbursement scheme to the collection of Real Word Data on safety and long-term efficacy of the treatment.