Patient’s thoughts and expectations about centres of expertise for PKU

Wegberg, Annemiek M. J. van; MacDonald, Anita; Abeln, D.; Hagedorn, T. S.; Lange, Elizabeth B; Trefz, F. K.; Vliet, Danique van; Spronsen, Francjan J. van

doi:10.1186/s13023-020-01647-7

Cited by 5 publications

(7 citation statements)

References 20 publications

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“…Most of the European countries, the Phe measurement is included in the national newborn screening (NBS) programs [ 30 ]. The aim of the NBS is to discover hyperphenylalaninemia (HPA), and this is defined as any blood Phe > 120 µmol/L [ 31 – 32 ].…”

Section: Discussionmentioning

confidence: 99%

The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review

Cannizzo,

Quoidbach,

Giunti

et al. 2024

Orphanet J Rare Dis

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One of the most relevant challenges for healthcare providers during the COVID– 19 pandemic has been assuring the continuity of care to patients with complex health needs such as people living with rare diseases (RDs). The COVID–19 pandemic accelerated the healthcare sector’s digital transformation agenda. The delivery of telemedicine services instead of many face-to-face procedures has been expanded and, many healthcare services not directly related to COVID-19 treatments shifted online remotely. Many hospitals, specialist centres, patients and families started to use telemedicine because they were forced to. This trend could directly represent a good practice on how care services could be organized and continuity of care could be ensured for patients. If done properly, it could boast improved patient outcomes and become a post COVID-19 major shift in the care paradigm. There is a fragmented stakeholders spectrum, as many questions arise on: how is e-health interacting with ‘traditional’ healthcare providers; about the role of the European Reference Networks (ERNs); if remote care can retain a human touch and stay patient centric. The manuscript is one of the results of the European Brain Council (EBC) Value of Treatment research project on rare brain disorders focusing on progressive ataxias, dystonia and phenylketonuria with the support of Academic Partners and in collaboration with European Reference Networks (ERNs) experts, applying empirical evidence from different European countries. The main purpose of this work is to investigate the impact of the COVID-19 pandemic on the continuity of care for ataxias, dystonia and phenylketonuria (PKU) in Europe. The analysis carried out makes it possible to highlight the critical points encountered and to learn from the best experiences. Here, we propose a scoping review that investigates this topic, focusing on continuity of care and novel methods (e.g., digital approaches) used to reduce the care disruption. This scoping review was designed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews (PRISMA-ScR) standards. This work showed that the implementation of telemedicine services was the main measure that healthcare providers (HCPs) put in place and adopted for mitigating the effects of disruption or discontinuity of the healthcare services of people with rare neurological diseases and with neurometabolic disorders in Europe.

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Section: Discussionmentioning

confidence: 99%

The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review

Cannizzo,

Quoidbach,

Giunti

et al. 2024

Orphanet J Rare Dis

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“…The assay result is displayed on the smartphone (PC or tablet) main page display. According to the European guidelines on phenylketonuria, 27,28 the PKU smart sensor response is arranged in six Phe concentration ranges, as detailed in a later section. Integrated Biosensing Strategy.…”

Section: ■ Experimental Sectionmentioning

confidence: 99%

“…The frequency of monitoring depends on several factors such as age, aptitude to respond to the diet/drug therapy, or particular physiological conditions such as pregnancy. 27,28 Currently, the best choice for Phe concentration monitoring is dried blood spot (DBS) testing. It consists of a drop of blood collected on a special filter paper, which, once dried, can be sent to a clinical metabolic center for analysis.…”

mentioning

confidence: 99%

Fully Integrated Point-of-Care Platform for the Self-Monitoring of Phenylalanine in Finger-Prick Blood

Messina,

Maugeri,

Spoto

et al. 2023

ACS Sens.

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Development of point-of-care platforms combining reliability and ease of use is a challenge for the evolution of sensing in healthcare technologies. Here, we report the development and testing of a fully integrated enzymatic colorimetric assay for the sensing of phenylalanine in blood samples from phenylketonuria patients. The platform works with a customized mobile app for data acquisition and visualization and comprises an electronic system and a disposable sensor. The sensing approach is based on specific enzymatic phenylalanine recognition, and the optical transduction method is based on in situ gold nanostructure formation. The phenylketonuria (PKU) smart sensor platform is conceived to perform self-monitoring on phenylalanine levels and real-time therapy tuning, thanks to the direct connection with clinicians. Validation of the technologies with a population of patients affected by PKU, together with the concurrent validation of the platform through centralized laboratories, has confirmed the good analytical performances in terms of sensitivity and specificity, robustness, and utility for phenylalanine sensing. The self-monitoring of phenylalanine for the daily identification of abnormal health conditions could facilitate rapid therapy tuning, improving the wellness of PKU patients.

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“…The aim of the NBS is to discover hyperphenylalaninemia (HPA), and this is defined as any blood Phe >120 μmol/L. (22)(23) .…”

Section: The Pku Optimized Patient Care Pathwaymentioning

confidence: 99%

“…During follow up blood Phe concentrations should be regularly monitored, aiming for blood Phe levels that are maintained within a given target treatment range, defined for a given age [22][23] .…”

Section: The Pku Optimized Patient Care Pathwaymentioning

confidence: 99%

The organizational dimension in rare diseases care management: an application of RarERN Path© methodology in the rare neurological diseases Ataxia, Dystonia and Phenylketonuria

Cannizzo,

Quoidbach,

Benson

et al. 2023

Preprint

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Background. The organization of care has a deep impact on the variability in the quality of care provided to patients and on the equity of care access. The lack of coordination of care, the lack of communication among health care providers, healthcare professionals and patients, the duplication of many services that are provided to the patients, represent some paradigmatic examples of organizational barriers and crucial issues to manage in the achievement of delivering high quality patient-centered care and the promotion of equitable access to healthcare services everywhere in Europe independently from the place where the patients live. This work represents the first application of the RarERN Path©methodology for the re(design) of Patient Care Pathways (PCP) outside the rare and complex connective tissue and musculoskeletal diseases (rCTDs) covered by ERN ReCONNET where the methodology was developed, through a productive collaboration between the group of Health Economics of the Institute of Management of Scuola Superiore Sant’Anna and the Value of Treatment (VOT) for Rare Brain Disorders (Ataxia, Dystonia and Phenylketonuria) research project undertaken in 2019-2022 by the European Brain Council (EBC). Results. Ataxia, Dystonia and Phenylketonuria (PKU) all share similar challenges: delayed diagnosis, barriers to access specialized care and treatment options, psychological burden, transition from pediatric care to adult care. The application of some of the phases of RarERN Path methodology enabled the translation of the good practices already in place in the centres of expertise into a common optimized PCP, one for each or the three rare neurological diseases, integrating the expertise of some reference centers of excellence members of ERN RND and MetabERN with the patients’ perspectives, and principally focusing on the organization of care for Ataxia, Dystonia and PKU. Conclusions. The PCPs proposed for Ataxia, Dystonia and PKU are the results of a co-designed optimized process integrating a) the good practices of the centers of excellence and expertise in Ataxia, Dystonia and PKU, also belonging to two of the 24 European Reference Networks for rare diseases (ERN RND and MetabERN), with b) the perspectives of the patients’ representatives. This integrated approach allowed to re-design and to optimize the organizational dimensions of the patients care pathways.

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Patient’s thoughts and expectations about centres of expertise for PKU

Cited by 5 publications

References 20 publications

The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review

The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review

Fully Integrated Point-of-Care Platform for the Self-Monitoring of Phenylalanine in Finger-Prick Blood

The organizational dimension in rare diseases care management: an application of RarERN Path© methodology in the rare neurological diseases Ataxia, Dystonia and Phenylketonuria

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