Are the Current Processes and Regulations Fit for Purpose to Deliver Novel Therapies During Pandemics? A Perspective on COVID-19 from the UKArticle Published on 2022-10-012022-11-16 Journal: Pharmaceutical medicine [Category] 신약개발, [키워드] activities adaptive approval arise contribute country COVID-19 COVID-19 pandemic current develop Dexamethasone ENhance flexible Health involved lesson Medicines multi-arm novel Pandemics question rare diseases RECOVERY trial reduce Regulation Regulatory regulatory pathways shown Stress therapy Trial trials UK Medicine United Kingdom urgency [DOI] 10.1007/s40290-022-00439-7 PMC 바로가기
RNA solutions to treat inborn errors of metabolism신진대사의 선천적 오류를 치료하기 위한 RNA 솔루션Review Published on 2022-08-012022-09-11 Journal: Molecular genetics and metabolism [Category] 유전자 메커니즘, [키워드] activating antisense Antisense oligonucleotides approved Biology Chemistry Clinical efficacy clinical trial clinical trials Clinical use COVID-19 drug drugs effective expression gene silencing help IEM include lncRNA mechanism mechanism of action messenger RNAs metabolism MicroRNAs molecules mRNA mutations New offer overcome Patient pharmacokinetic rare disease rare diseases Research RNA RNA interference RNA vaccine RNA vaccines RNAs siRNA splicing Stage suppress target tissues Therapeutic approach therapy tissues treat [DOI] 10.1016/j.ymgme.2022.07.006 PMC 바로가기 [Article Type] Review
Discovering potential interactions between rare diseases and COVID-19 by combining mechanistic models of viral infection with statistical modeling바이러스 감염의 기계론적 모델과 통계적 모델링을 결합하여 희귀 질환과 COVID-19 간의 잠재적 상호 작용 발견Article Published on 2022-06-222022-09-11 Journal: Human molecular genetics [Category] 유전자 메커니즘, 치료기술, [키워드] analyzed approach consequence Consequences coronavirus disease Coronavirus disease 2019 correlation COVID-19 COVID-19 disease COVID-19 infection demonstrated described detect disease downstream genetic component genetic variability hallmark host genetics identify in some infection process Interaction loss of function mathematical mechanism molecular Molecular Disease MOST occur pathological consequences preventive measure Prognosis rare disease rare diseases recent statistical systematic analysis viral infection with COVID-19 [DOI] 10.1093/hmg/ddac007 PMC 바로가기 [Article Type] Article
Increased COVID-19 mortality rate in rare disease patients: a retrospective cohort study in participants of the Genomics England 100,000 Genomes project희귀 질환 환자의 COVID-19 사망률 증가: Genomics England 100,000 Genomes 프로젝트 참가자의 후향적 코호트 연구Article Published on 2022-04-122022-09-11 Journal: Orphanet Journal of Rare Diseases [Category] COVID19(2023년), SARS, 유전자 메커니즘, [키워드] affected age Awareness calculated can not Cohort Comorbidities condition correlation COVID-19 COVID-19 mortality COVID-19 pandemic COVID-19 related mortality death disease Diseases disorders First wave Fisher Fisher's exact test Genomics England high risk Increased increased risk Logistic regression mortality rates multivariable analysis NEUROLOGY number of comorbidity pandemic participant Participants Patient patients performed positive raise rare disease rare diseases retrospective cohort study risk risk factor Risk factors significantly small sample size tested two groups univariable was used Workplace [DOI] 10.1186/s13023-022-02312-x PMC 바로가기 [Article Type] Article
Can Innovative Trial Designs in Orphan Diseases Drive Advancement of Treatments for Common Neurological Diseases?희귀 질환에 대한 혁신적인 시험 설계가 일반적인 신경계 질환에 대한 치료법의 발전을 주도할 수 있습니까?Review Published on 2022-04-012022-09-11 Journal: Clinical Pharmacology and Therapeutics [Category] 신약개발, [키워드] accelerate accelerated adaptive advancement Advancing Amyotrophic lateral sclerosis approach approval approvals Can clinical trial common complex coronavirus disease Coronavirus disease 2019 COVID-19 COVID-19 pandemic Critical disease Diseases drive drugs Duchenne muscular dystrophy Efficacy Evidence Formal Innovation Lateral Sclerosis muscular muscular dystrophy nervous system disorder opportunity Orphan pandemic parkinson s disease Parkinson's Disease progressed rare diseases Regulatory regulatory agency therapeutic Trial [DOI] 10.1002/cpt.2528 PMC 바로가기 [Article Type] Review
The Impact of Wearable Technologies in Health Research: Scoping ReviewReview Published on 2022-01-252022-10-31 Journal: JMIR mHealth and uHealth [Category] Coronavirus, SARS, [키워드] Accuracy Analysis analyzed approach article big data blood pressure CINAHL collected data commercially available wearables conducted consumer-grade wearables COVID-19 COVID-19 pandemic data set database Effect Effects eligible excluded extension fitness trackers global health Health Impact increasingly indicated individual item lack Low-resource setting mHealth mobile phone MOST noninvasive North America objective Other outcome OVID pandemic participant Participants performed Perspective physiological Population health populations prognostic Psychological public health rare diseases Reporting Research respiratory rate Result review technology temperature tracker Typical wearable Web of Science web-based study [DOI] 10.2196/34384 PMC 바로가기 [Article Type] Review
Morbidity, Clinical Course and Vaccination against SARS-CoV-2 Virus in Patients with Duchenne Muscular Dystrophy: A Patient Reported SurveyArticle Published on 2021-12-302022-10-29 Journal: International Journal of Environmental Research an [Category] COVID-19, SARS, [키워드] All participant Anxiety asked Care change clinical conducted Course COVID-19 COVID-19 infection COVID-19 pandemic death DMD Duchenne muscular dystrophy education expected Health higher risk incidence Infection management material Mild Mild symptom muscular neuromuscular disease pandemic participant Patient positive question rare diseases respiratory infection respondent SARS-CoV-2 SARS-CoV-2 virus survey vaccination vaccination against COVID-19 vaccination against SARS-CoV-2 [DOI] 10.3390/ijerph19010406 PMC 바로가기 [Article Type] Article
Quality of life and mental health of children with rare congenital surgical diseases and their parents during the COVID-19 pandemicResearch Published on 2021-11-272022-10-29 Journal: Orphanet Journal of Rare Diseases [Category] Coronavirus, MERS, SARS, [키워드] affected alleviate approach children conducted control group COVID-19 COVID-19 pandemic disease evaluate groups health-related quality of life impairment influence investigated lockdown Measures mental health outcome parent parents pediatric Pediatric surgery presenting Quality Quality of life questionnaire rare disease rare diseases receive regression analysis Result risk factor significantly higher significantly lower supplementary material supportive care surgical university hospital was collected [DOI] 10.1186/s13023-021-02129-0 PMC 바로가기 [Article Type] Research
The latest developments in the area of therapeutic delivery excluding some diseases, such as COVID-19 and the big three (HIV/AID, malaria and tuberculosis)Covid-19 및 Big Three (HIV/AID, Malaria 및 Tuberculosis)와 같은 일부 질병을 제외한 치료 전달 분야의 최신 발전Industry News Published on 2021-10-212022-08-31 Journal: Therapeutic Delivery [Category] MERS, SARS, 말라리아, 치료제, [키워드] Analysis approval approvals Cancer cardiovascular diseases Care COVID-19 COVID-19 research Critical disease develop Diseases drug candidate example Final flavonoids group growth gut microbioma Health Health care healthcare imperative indication malaria new approvals nutrition and health orphan medicines other disease other diseases patents Pompe disease press public opinion raised rare disease rare diseases Regulatory Release Research research and development researcher severe atopic dermatitis severe plaque psoriasis systemic lupus erythematosus therapeutic therapy Tuberculosis von Hippel-Lindau disease Waldenström's macroglobulinemia website Wilson disease [DOI] 10.4155/tde-2021-0066 PMC 바로가기 [Article Type] Industry News
Impact of the COVID-19 pandemic on hospitalizations of patients with moderate-to-severe skin diseases: A retrospective cohort analysis from a Central European CenterResearch Letter Published on 2021-09-222024-09-04 Journal: Journal of the American Academy of Dermatology [Category] 대상포진, [키워드] Dermatology health services utilization rare diseases SARS-CoV-2 skin cancer [DOI] 10.1016/j.jaad.2021.09.032 PMC 바로가기 [Article Type] Research Letter