The burden of rare diseases
CR Ferreira - American journal of medical genetics Part A, 2019 - Wiley Online Library
The subject of rare disease numbers is rife with misconceptions, not just in websites and
other layman's literature, but also in the medical literature. Various websites mention …
other layman's literature, but also in the medical literature. Various websites mention …
Highly purified cannabidiol for epilepsy treatment: A systematic review of epileptic conditions beyond dravet syndrome and Lennox–Gastaut syndrome
Background Cannabidiol (CBD), which is one major constituent of the Cannabis sativa plant,
has anti-seizure properties and does not produce euphoric or intrusive side effects. A plant …
has anti-seizure properties and does not produce euphoric or intrusive side effects. A plant …
Artificial intelligence (AI) in rare diseases: is the future brighter?
S Brasil, C Pascoal, R Francisco, V dos Reis Ferreira… - Genes, 2019 - mdpi.com
The amount of data collected and managed in (bio) medicine is ever-increasing. Thus, there
is a need to rapidly and efficiently collect, analyze, and characterize all this information …
is a need to rapidly and efficiently collect, analyze, and characterize all this information …
Rapid access to innovative medicinal products while ensuring relevant health technology assessment. Position of the French National Authority for Health
A Vanier, J Fernandez, S Kelley, L Alter… - BMJ Evidence-Based …, 2024 - ebm.bmj.com
In France, decisions for reimbursement taken by the Ministry of Health are based on
appraisal by an independent Health Technology Assessment body (HTAb): the 'Haute …
appraisal by an independent Health Technology Assessment body (HTAb): the 'Haute …
Developing a framework to incorporate real-world evidence in cancer drug funding decisions: the Canadian Real-world Evidence for Value of Cancer Drugs …
K Chan, S Nam, B Evans, C de Oliveira, A Chambers… - BMJ open, 2020 - bmjopen.bmj.com
Background Oncology therapy is becoming increasingly more expensive and challenging
the affordability and sustainability of drug programmes around the world. When new drugs …
the affordability and sustainability of drug programmes around the world. When new drugs …
[HTML][HTML] Algorithms and heuristics of health technology assessments: a retrospective analysis of factors associated with HTA outcomes for new drugs across seven …
P Kanavos, E Visintin, A Gentilini - Social Science & Medicine, 2023 - Elsevier
Context Positive health technology assessment (HTA) outcomes can have important
implications for equity, efficiency and timely patient access to novel therapies. Several …
implications for equity, efficiency and timely patient access to novel therapies. Several …
[HTML][HTML] Market access of gene therapies across Europe, USA, and Canada: challenges, trends, and solutions
E van Overbeeke, S Michelsen, M Toumi, H Stevens… - Drug discovery today, 2021 - Elsevier
Highlights•Challenges blocking market access of GTMPs are highly interrelated.•Developers
should seek support and early joint interactions with regulators and payers.•Conditional …
should seek support and early joint interactions with regulators and payers.•Conditional …
The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution
Artificial intelligence (AI) platforms have emerged as pivotal tools in genetics and molecular
medicine, as in many other fields. The growth in patient data, identification of new diseases …
medicine, as in many other fields. The growth in patient data, identification of new diseases …
Response to cannabidiol in epilepsy of infancy with migrating focal seizures associated with KCNT1 mutations: An open-label, prospective, interventional study
K Poisson, M Wong, C Lee, MR Cilio - European Journal of Paediatric …, 2020 - Elsevier
Abstract Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) is a rare, developmental
and epileptic encephalopathy most commonly associated with mutations in KCNT1, a …
and epileptic encephalopathy most commonly associated with mutations in KCNT1, a …
A medicine adoption model for assessing the expected effects of additional real-world evidence (RWE) at product launch
R Jandhyala - Current Medical Research and Opinion, 2021 - Taylor & Francis
Introduction The optimal launch and adoption of novel medicines require effective
navigation of the commercial and regulatory landscape, including three key gatekeeper …
navigation of the commercial and regulatory landscape, including three key gatekeeper …