ObjectiveTo learn the development and implementation of orphan drug policies, in order to provide decision-making references for the establishment of orphan drug policy according with China's national conditions. MethodsWe electronically searched databases including CBM, CNKI, VIP, EMbase, PubMed, Web of Knowledge, National Library of Medicine, CRD database, The Campbell Library, The Cochrane Library and the drug administration websites of USA, Canada, UK, Ireland, the Netherlands, Germany, Spain, France, Australia, New Zealand, China, India, South Korea, Japan, and South Africa to collect studies about orphan drug policy. The search date was up to February 2014. Two reviewers independently screened literature, and extracted data. Then, all included orphan drug policies were summarized and a comparative analysis was performed. ResultsA total of 110 studies were included. USA, Singapore, Japan, Australia, European Union, Chinese Taiwan and South Korea had introduced orphan drugs incentive policies. South Africa, India, Canada, New Zealand and Chinese Hongkong were producing orphan drugs policy frameworks. The main items of orphan drug policy included marketing exclusivity, tax incentives, technical assistance, grant funding, expedite approval process and prolong re-evaluated time. ConclusionIn mainland China, there is no orphan disease management policy. China should establish specific organization and working procedures, promote orphan drug policy related legislative work, clarify the definition and prevalence of orphan diseases, provide incentive mechanism to promote the research and development of orphan drugs, provide enterprises to develop compensation mechanism to safeguard the rights and interests of patients, as well as establish patients register network platform to track the processes of the diseases.
ObjectiveTo summarize the diagnosis and clinicopathological features of primary intestinal extranodal nasal type NK/T-cell lymphoma (PI-ENKTCL), and to enhance the diagnostic and differential diagnosis of this rare disease.MethodsThe clinicopathologic data of a patient with PI-ENKTCL admitted to Gansu Provincial Hospital in January 2019 were retrospectively analyzed.ResultsWe diagnosed PI-ENKTCL doubtfully by PET-CT , and after the discussion of MDT, we finished radical operation which achieved R0 resection. The pathological type was consistent with PI-ENKTCL diagnosis. The operation lasted 280 minutes, and the intraoperative blood loss was about 50 mL. Postoperative pathology confirmed that the tumor margin was negative and no postoperative complication occurred, and the patient was discharged successfully on the 13th day after the operation. The patient, followed for five months after operation, was treated with L-GMOEX [gemcitabine+oxaliplatin combined with L-asparaginase (L-ASP)] chemotherapy for four periods at time, and the treatment effect continued to be followed up.ConclusionsIt is necessary to discuss by MDT for doubtfully diagnosing PI-ENKTCL because of the disease being rare. The imaging diagnosis is mainly PET-CT. Surgical resection is the main treatment, we should formulate the best chemotherapy according to post-operation pathological results, for improving the patient’s prognosis and prolonging patient’s life with PI-ENKTCL.
ObjectivesTo provide a useful framework for improved understanding of international value drivers in the decision-making process of medical insurance access, and to explore the value assessment criteria of orphan drugs from stakeholders’ perspective.MethodsPubMed, EMbase, CINAHL Plus, ProQuest, Web of Science, CNKI and WanFang Data databases were electronically searched to collect studies from January 1st, 1983 to December 31st, 2018. Research questions were constructed based on SPIDER model. We established the inclusion and exclusion criteria to filter studies. Study quality was evaluated using the Critical Appraisal Skills Programme (CASP) checklist. A thematic synthesis was undertaken to develop descriptive themes, analytical constructs and third-level themes of value drivers by NVivo 11 software, and confidence in the findings was assessed using the CERQual method.ResultsA total of 10 studies including 20 research countries were included. Fifty descriptive themes were interpreted and embedded within 14 analytical constructs and 3 third-level themes after induction. Specifically, 3 broad themes were disease-related influence factors, which included severity, unmet requirements, disease burden, affected individuals, and moral and ethical considerations; drug-related influence factors, which included safety, efficacy, economics, innovation, quality of evidence; and some external and non-pharmaceutical intrinsic properties factors, which included reimbursement status in other countries or regions, government goals and priorities, confirmed drug supply and impact on environment.ConclusionsIn addition to conventional considerations such as efficacy and pharmacoeconomics, stakeholders are willing to take a broader perspective when in the case of the value assessment of orphan drugs. Comprehensive understanding of these value drivers is important to shape policy and enhance decision-making.
Rare diseases have problems with low number of cases, low social awareness, and long time of diagnosis. “Targeted doctor” is the first step to help rare disease patients start the correct path of diagnosis and treatment. This article introduces the design of a decision-making engine for patients with rare diseases by constructing a knowledge graph of rare diseases and experts, using an intelligent question-and-answer system, and combining big data and artificial intelligence methods. This engine can perform rare disease pre-screening based on patient portraits and other information, and recommend the best visiting route to patients, thereby improving the efficiency of rare disease patients’ medical service system and enhancing the decision-making ability of rare diseases.
In 2021, West China Hospital of Sichuan University established a rare disease diagnosis and treatment and research center. The center adopts the rare disease management model of “one cohesion + four integration”, condenses the core of management, integrates clinical resources, regional alliance resources, training resources and research resources, and explores solutions for all-round services for patients with rare diseases. This article aims to explore the rare disease management model of regional central hospitals and introduces the above-mentioned rare disease management model. The purpose of this article is to promote this model, focus on the advantages of clinical departments and research institutes (offices), increase regional integration, give play to the synergy of regional alliances in clinical diagnosis and treatment and personnel training, and use international cooperation as an opportunity to promote breakthroughs in new drugs and technologies for rare diseases to benefit patients with rare diseases in China.
At present, there are some problems in the post-diagnosis service of rare diseases, such as immature service path, imperfect health supervision and discontinuous to post-diagnosis data flows. How to properly solve these problems and find a way to promote the post-diagnosis service of rare diseases is the focus now. Based on the actual situation of diagnosis and treatment of patients with rare diseases in West China Hospital of Sichuan University and literature. This paper finds that making full use of the method of intelligent continuous management, establishing a continuous health management system, and integrating rare disease data information through intelligent health management platform and internet medical treatment can alleviate the shortage of medical resources and solve the dilemma of post-diagnosis service of rare diseases. At the same time, this paper analyzes the dilemma of post-diagnosis services of rare diseases and the feasible countermeasures of intelligent medical assistance management, and explores the management of rare diseases led by tertiary hospitals and joint built by medical units of the hospital alliance, in response to the national graded diagnosis and treatment policy, so as to provide all-round health protection for patients with rare diseases for reference and learning.
ObjectiveTo conduct a scoping review of studies on the application of knowledge mapping in the field of rare diseases at home and abroad, in order to clarify the content and status of application and provide references for future research in this field. MethodsRelevant studies in PubMed, Web of Science, Embase, MEDLINE, CNKI, WanFang Data, VIP, and CBM databases were searched, using the Joanna Briggs Institute Scoping Review Guidelines in Australia as the methodological framework, and the search time frame was from the establishment of the database to June 1, 2023. ResultsTwenty-five papers were included, and the main applications of knowledge graphs in the field of rare diseases were knowledge management, assisted diagnosis, drug repositioning and decision support, involving techniques such as knowledge representation, knowledge extraction, knowledge reasoning, knowledge fusion and knowledge storage.ConclusionKnowledge graphs have shown positive results in fusing and exploiting multi-source information, aiding disease prediction and diagnosis and drug development, but further technical improvements are needed.
Rare diseases are a kind of diseases with very low incidence and prevalence. They are difficult to diagnose, treat and use drugs. Multi-disciplinary team (MDT) has become the main mode of modern medical diagnosis and treatment. Many hospitals at home and abroad have begun to apply MDT in the diagnosis and treatment of rare diseases. This paper introduces the MDT mode of rare diseases at home and abroad, focusing on the mode, work flow and content of the MDT service system for rare diseases in West China Hospital of Sichuan University, and discusses the problems and optimization suggestions of the current construction of the MDT service system for rare diseases. The purpose is to provide some reference for the establishment of MDT model of rare diseases in China.