Comparative policy analysis of national rare disease funding policies in Australia, Singapore, South Korea, the United Kingdom and the United States: a scoping review.

BACKGROUND: Rare diseases pose immense challenges for healthcare systems due to their low prevalence, associated disabilities, and attendant treatment costs. Advancements in gene therapy, such as treatments for Spinal Muscular Atrophy (SMA), have introduced novel therapeutic options, but the high costs, exemplified by Zolgensma® at US$2.1 million, present significant financial barriers. This scoping review aimed to compare the funding approaches for rare disease treatments across high-performing health systems in Australia, Singapore, South Korea, the United Kingdom (UK), and the United States (US), aiming to identify best practices and areas for future research. METHODS: In accordance with the PRISMA-ScR guidelines and the methodological framework by Arksey and O'Malley and ensuing recommendations, a comprehensive search of electronic databases (Medline, EMBASE, and Cochrane) and grey literature from health department websites and leading national organizations dedicated to rare diseases in these countries was conducted. Countries selected for comparison were high-income countries with advanced economies and high-performing health systems: Australia, Singapore, South Korea, the UK, and the US. The inclusion criteria focused on studies detailing drug approval processes, reimbursement decisions and funding mechanisms, and published from 2010 to 2024. RESULTS: Based on a thorough review of 18 published papers and grey literature, various strategies are employed by countries to balance budgetary constraints and access to rare disease treatments. Australia utilizes the Life Saving Drugs Program and risk-sharing agreements. Singapore depends on the Rare Disease Fund, which matches public donations. South Korea's National Health Insurance Service covers specific orphan drugs through risk-sharing agreements. The UK relies on the National Institute for Health and Care Excellence (NICE) to evaluate treatments for cost-effectiveness, supported by the Innovative Medicines Fund. In the US, a combination of federal and state programs, private insurance and non-profit support is used. CONCLUSION: Outcome-based risk-sharing agreements present a practical solution for managing the financial strain of costly treatments. These agreements tie payment to actual treatment efficacy, thereby distributing financial risk and promoting ongoing data collection. Countries should consider adopting and expanding these agreements to balance immediate expenses with long-term benefits, ultimately ensuring equitable access to crucial treatments for patients afflicted by rare diseases.

Intensive community care services for children and young people in psychiatric crisis: an expert opinion.

BACKGROUND: Children and young people's (CYP) mental health is worsening, and an increasing number are seeking psychiatric and mental health care. Whilst many CYPs with low-to-medium levels of psychiatric distress can be treated in outpatient services, CYPs in crisis often require inpatient hospital treatment. Although necessary in many cases, inpatient care can be distressing for CYPs and their families. Amongst other things, inpatient stays often isolate CYPs from their support networks and disrupt their education. In response to such limitations, and in order to effectively support CYPs with complex mental health needs, intensive community-based treatment models, which are known in this paper as intensive community care services (ICCS), have been developed. Although ICCS have been developed in a number of settings, there is, at present, little to no consensus of what ICCS entails. METHODS: A group of child and adolescent mental health clinicians, researchers and academics convened in London in January 2023. They met to discuss and agree upon the minimum requirements of ICCS. The discussion was semi-structured and used the Dartmouth Assertive Community Treatment Fidelity Scale as a framework. Following the meeting, the agreed features of ICCS, as described in this paper, were written up. RESULTS: ICCS was defined as a service which provides treatment primarily outside of hospital in community settings such as the school or home. Alongside this, ICCS should provide at least some out-of-hours support, and a minimum of 90% of CYPs should be supported at least twice per week. The maximum caseload should be approximately 5 clients per full time equivalent (FTE), and the minimum number of staff for an ICCS team should be 4 FTE. The group also confirmed the importance of supporting CYPs engagement with their communities and the need to remain flexible in treatment provision. Finally, the importance of robust evaluation utilising tools including the Children's Global Assessment Scale were agreed. CONCLUSIONS: This paper presents the agreed minimum requirements of intensive community-based psychiatric care. Using the parameters laid out herein, clinicians, academics, and related colleagues working in ICCS should seek to further develop the evidence base for this treatment model.

Gene targeting techniques for Huntington's disease.

Huntington's disease (HD) is an autosomal neurodegenerative disorder caused by extended trinucleotide CAG repetition in the HTT gene. Wild-type huntingtin protein (HTT) is essential, involved in a variety of crucial cellular functions such as vesicle transportation, cell division, transcription regulation, autophagy, and tissue maintenance. The mutant HTT (mHTT) proteins in the body interfere with HTT's normal cellular functions and cause additional detrimental effects. In this review, we discuss multiple approaches targeting DNA and RNA to reduce mHTT expression. These approaches are categorized into non-allele-specific silencing and allele-specific-silencing using Single Nucleotide Polymorphisms (SNPs) and haplogroup analysis. Additionally, this review discusses a potential application of recent CRISPR prime editing technology in targeting HD.

[Rapid SARS-CoV-2 antigenic test: definition, legislation of use, technological principles, analytical and clinical performance comparison]. / Tests rapides antigéniques SARS-CoV-2 : définition, législation d'utilisation, principes technologiques, comparaison des performances analytiques et cliniques.

The SARS-CoV-2 has emerged in China at the end of 2019. In order to meet the growing demand in laboratories for RT-PCR testing for viral genome detection, rapid tests detecting a SARS-CoV-2 protein (antigenic rapid test) have been developed. In this review, we present for different SARS-CoV-2 antigenic rapid tests authorized in France: legislation, technological principle, and analytical and clinical performances. Data bellow are those provided by the manufacturer/distributor. From the list of tests authorized by the French Ministry of Health, we have selected 25 for which the distributors/manufacturers have provided the technical data essential to their comparative analysis. The kits use immunochromatography technology, with detection of the nucleocapsid protein (n = 24) or the spike protein (n = 1). The matrix used is a nasopharyngeal (n = 23), oropharyngeal (n = 9) or nasal (n = 3) swab. According to the test, the reading of the result is done from 15 to 30 minutes after it is performed. The clinical sensitivity, for the more performant tests is conversely linked to the Ct of RT-PCR, ranging from 80.2% to 98.4%, according to the quantity of virus present in the sample. This percentage is inversely proportional to the Ct obtained using RT-PCR. The limit of detection ranges from 31.55 to 7200 TCID50/mL. The clinical specificity, compared to a negative result of RT-PCR, is between 99.2% and 100%. Analytical specificity evaluated on other microorganisms is 100%, except for 3 kits that show cross-reactivities with SARS-CoV-1 (n = 3) and MERS-CoV (n = 1). Positive and negative predictive values range from 96.3% to 100% and 95% to 99.4%, respectively.

[Caring systems for parents in the adolescent behavioural addictions]. / Prise en charge des parents dans les addictions comportementales de l'adolescent.

Caring systems for parents in the adolescent behavioural addictions. Parents still play a major role in the life of their children during their adolescence. In case of behavioural addiction, they would often feel helpless, distressed and disqualified. Yet, they still have a major role to play to ensure the best possible development of their child, while respecting him growing into an adult. An excessive proximity might be considered as intrusive, whereas an excessive distance might be considered abandonment. Most of the time, behavioral addiction reflects a malaise among adolescents, possibly also affecting their families. General practitioners are at the forefront of the detection and support of patients and their families. There are various caring systems dedicated to families: parental counselling, family therapies (systemic therapy, multiple family or multidimensional family group therapy) and parents groups. They pursue the same objective: helping families regain a sense of capability.

Prise en charge des parents dans les addictions comportementales de l'adolescent. À l'adolescence, les parents occupent encore une place importante dans la vie de leur enfant. Dans les situations d'addiction comportementale, ils se sentent souvent désemparés, démunis et disqualifiés, pourtant leur rôle est fondamental pour assurer le meilleur développement possible à leur enfant tout en respectant le futur adulte en devenir. Une trop grande proximité est vécue comme une intrusion alors qu'une trop grande distance est vécue comme un abandon. L'addiction comportementale révèle le plus souvent un mal-être chez l'adolescent et parfois dans sa famille. Le médecin traitant est en première ligne pour le dépistage et l'accompagnement du patient et de sa famille. Il existe différentes modalités de prise en charge de la famille : consultation parentale, thérapies familiales (systémique, multifamiliale, multidimensionnelle), groupes de parents qui toutes visent à ce que la famille retrouve un sentiment de compétence.