Article
Food Science & Technology
Ning-Chun Hsiang, Weng-Foung Huang, Churn-Shiouh Gau, Teng-Wen Tsai, Lin-Chau Chang
Summary: The Rare Disease and Orphan Drug Act in Taiwan aimed to facilitate the availability and use of orphan drugs, as well as prevention and early diagnosis of rare diseases. While the National Health Insurance program increased patient accessibility to orphan drugs, the rapidly increasing economic burden became an urgent issue for the government to address. Emerging gene therapies may offer solutions to unmet medical needs but also present financial challenges. Collaboration and communication between stakeholders are crucial for finding sustainable solutions for the National Health Insurance system.
JOURNAL OF FOOD AND DRUG ANALYSIS
(2021)
Review
Respiratory System
Tiago M. Alfaro, Marlies S. Wijsenbeek, Pippa Powell, Daiana Stolz, John R. Hurst, Michael Kreuter, Catharina C. Moor
Summary: People with rare lung diseases often face delayed diagnosis, limited treatment options, and difficulty in finding expert physicians. The limited education and training for healthcare practitioners on rare diseases contribute to the delay in diagnosis. Patients and families seek easier access to high-quality education materials to manage their own diseases. Increased awareness and development of patient-centered international expert networks are essential for improving care and education on rare lung diseases.
RESPIRATORY RESEARCH
(2021)
Article
Economics
Linda Yamoah, Nick Dragojlovic, Alesha Smith, Larry D. Lynd, Carlo A. Marra
Summary: The study surveyed 500 New Zealanders aged 18 years and above, revealing that the most valued factors were potential effect on quality of life, drug efficacy, severity of disease, safety, and potential to extend life. Most participants believed that resources should be allocated to drugs that are proven to work and have the greatest health benefits.
Article
Pharmacology & Pharmacy
Monica Mazzucato, Cinzia Minichiello, Andrea Vianello, Laura Visona dalla Pozza, Ema Toto, Paola Facchin
Summary: This study explores the characteristics and patterns of orphan medicinal product (OMP) utilization in rare disease (RD) patients. It finds that OMP use is mainly concentrated in specific disease groups, such as neurological, hematological, and hereditary metabolic diseases. The study also identifies diseases that have less benefit from OMP and highlights the need for investment to address unmet care needs.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Clinical Neurology
Jeremy D. Schmahmann, Samantha Pierce, Jason MacMore, Gilbert J. L'Italien
Summary: The study developed a Patient-Reported Outcome Measure of Ataxia through online surveys completed by ataxia patients, scored on a 0-4 Likert scale. The measurement showed high internal consistency and reliability, and was sensitive to ataxia severity. It was significantly associated with measures of ataxia, quality of life, and mental health.
MOVEMENT DISORDERS
(2021)
Article
Medicine, General & Internal
Thomas Michaeli, Hendrik Juerges, Daniel Tobias Michaeli
Summary: The objective of this study was to analyze the FDA approval, trials, unmet needs, benefit, and pricing of ultra-rare, rare, and common orphan cancer drug indications and non-orphan cancer drug indications. The results showed that drugs for ultra-rare orphan indications were more frequently first in class, monotherapies, for hematologic cancers, and supported by smaller trials. Drugs for common orphan indications were more often biomarker directed, first line, and small molecules benefiting from quicker time to FDA approval. The study highlights the importance of orphan drug development for rare and ultra-rare diseases.
BMJ-BRITISH MEDICAL JOURNAL
(2023)
Article
Oncology
Ella A. Eklund, Clotilde Wiel, Henrik Fagman, Levent M. Akyurek, Sukanya Raghavan, Jan Nyman, Andreas Hallqvist, Volkan Sayin
Summary: This retrospective study investigated the impact of KRAS mutational status on clinical outcome in patients with metastatic non-small cell lung cancer (NSCLC). The results showed that KRAS(MUT) patients had better response to immune checkpoint blockade (ICB) but worse response to platinum doublet chemotherapy (PT). Additionally, KRAS(WT) patients with high PD-L1 expressing tumors responded better to PT than ICB.
Review
Behavioral Sciences
Alaleh Sadraee, Martin Paulus, Hamed Ekhtiari
Summary: The study found that the number of clinical trials using fMRI as an outcome measure is increasing, but there is a high proportion of trials that are not yet completed and published. There is a growing need for standardization and harmonization of methods and analysis for fMRI-based outcomes in clinical trials to ensure data accuracy and consistency.
BRAIN AND BEHAVIOR
(2021)
Review
Health Care Sciences & Services
Giovanni Tafuri, Andrea Bracco, Jens Grueger
Summary: The EU Orphan Regulation has led to an increase in the development of medicines for rare diseases. However, access to these treatments varies greatly across EU member states. This article provides an overview of the current situation, discusses policy landscapes, and makes recommendations for improvement to ensure patient access to orphan drugs.
EXPERT REVIEW OF PHARMACOECONOMICS & OUTCOMES RESEARCH
(2022)
Article
Cardiac & Cardiovascular Systems
Martijn G. ten Berge, Naomi Beck, Willem Hans Steup, Ad F. T. M. Verhagen, Thomas J. van Brakel, Wilhelmina H. Schreurs, Michel W. J. M. Wouters
Summary: The study aimed to develop a new composite measure 'textbook outcome' to evaluate and improve quality of surgical care for NSCLC patients. Results showed that 26.4% of patients achieved textbook outcome, with insufficient lymph node dissection being the most substantial factor affecting it.
EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY
(2021)
Article
Surgery
Samantha E. Halpern, Dimitrios Moris, Jared N. Gloria, Brian I. Shaw, John C. Haney, Jacob A. Klapper, Andrew S. Barbas, Matthew G. Hartwig
Summary: The objective of this study was to define the textbook outcome for lung transplantation and evaluate its association with post-transplant outcomes and costs. The study found that achieving a textbook outcome was associated with better post-transplant outcomes and lower costs. This suggests that a textbook outcome can help providers and patients assess the quality of transplant centers and identify areas for improvement.
Article
Oncology
Par-Ola Bendahl, Mattias Belting, Emelie Gezelius
Summary: The detection of circulating tumor cells (CTCs) is valuable for predicting prognosis and guiding treatment in small cell lung cancer (SCLC). Detectable CTCs correlate with poorer survival outcomes in SCLC patients, even after completion of treatment. Therefore, the analysis of CTCs may have a role in the management of SCLC and further research is warranted.
Article
Oncology
Sarah Voggel, Michael Abele, Christian Seitz, Abbas Agaimy, Christian Vokuhl, Uta Dirksen, Andrea Bier, Tim Flaadt, Carl F. Classen, Alexander Claviez, Dominik T. Schneider, Ines B. Brecht
Summary: Primary lung carcinomas are very rare in children, presenting with nonspecific symptoms, making diagnosis and treatment challenging. Mucoepidermoid carcinoma (MEC) is the most common entity with a favorable outcome, while adenocarcinoma and SCC patients might benefit from molecular profiling and targeted therapies.
Article
Oncology
Terri S. Armstrong, Mark R. Gilbert
Summary: Clinical research for patients with rare cancers is challenging due to difficulties in patient accrual, trial design, and evaluation of treatment outcomes. Despite these challenges, studies on rare cancers have yielded important findings, emphasizing the importance of incorporating patient outcomes measures in future trials.
Article
Oncology
Birgitte Sandfeld-Paulsen, Ninna Aggerholm-Pedersen, Anne Winther-Larsen
Summary: The study found that the albumin-to-alkaline phosphatase ratio (AAPR) is an independent prognostic factor in lung cancer patients, with a significant correlation between AAPR level and overall survival. This correlation appears to be level-dependent, with decreasing AAPR level associated with reduced survival.
Article
Respiratory System
Jan Johnson, Iain Stewart, Simon R. Johnson
Summary: In patients with lymphangioleiomyomatosis, lung function measurements can vary and recognizing the need for treatment can be challenging. This study found that DLCO may decline independently of FEV1, especially in early disease and during mTOR inhibitor treatment. Multiple measurements over a long period of time are needed to accurately estimate lung function trajectories.
Article
Physiology
Amanda L. Tatler, Christopher J. Philp, Michael R. Hill, Sam Cox, Andrew M. Bullock, Anthony Habgood, Alison John, Robert Middlewick, Katherine E. Stephenson, Amanda T. Goodwin, Charlotte K. Billington, Reuben D. O. ' Dea, Simon R. Johnson, Bindi S. Brook
Summary: Airway remodeling in chronic asthma involves increased ASM and ECM. A new method reveals that ASM and ECM changes are more pronounced in small and large airways compared to intermediate airways. Changes in ASM resolve over 7 days, while ECM and epithelial changes persist. The method highlights important spatial differences in remodeling and could set new analysis standards for murine asthma models.
AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY
(2023)
Review
Respiratory System
Marcus A. Mall, Gerard J. Criner, Marc Miravitlles, Steven M. Rowe, Claus F. Vogelmeier, David J. Rowlands, Matthias Schoenberger, Pablo Altman
Summary: CFTR is an important ion channel responsible for the transport of chloride and bicarbonate anions. Dysfunction of CFTR has been observed in both inherited cystic fibrosis and acquired COPD. CFTR dysfunction can contribute to various manifestations and progression of COPD, including airway obstruction, inflammation, and tissue destruction. This review explores the acquired dysfunction of CFTR in COPD and discusses the potential benefits of CFTR potentiation in improving lung function and reducing inflammation.
EUROPEAN RESPIRATORY JOURNAL
(2023)
Article
Respiratory System
Francisco Garcia-Rio, Marc Miravitlles, Joan B. Soriano, Borja G. Cosio, Juan Jose Soler-Cataluna, Ciro Casanova, Pilar de Lucas, Inmaculada Alfageme, Jose Miguel Rodriguez Gonzalez-Moro, Maria Guadalupe Sanchez Herrero, Julio Ancochea
Summary: This study aimed to describe the prevalence of reduced diffusing capacity of the lungs for carbon monoxide (DLCO) in a population-based sample of smokers without airflow limitation, as well as its morphological, functional, and clinical implications. The study found that smokers had a higher prevalence of reduced DLCO, which was associated with decreased exercise capacity and early vascular damage.
BMJ OPEN RESPIRATORY RESEARCH
(2023)
Article
Critical Care Medicine
Mario Cazzola, Paola Rogliani, Peter J. Barnes, Francesco Blasi, Bartolome Celli, Nicola A. Hanania, Fernando J. Martinez, Bruce E. Miller, Marc Miravitlles, Clive P. Page, Ruth Tal-Singer, Maria Gabriella Matera
Summary: This paper reviews the advances in chronic obstructive pulmonary disease research and highlights the need to update the original report. New measurement tools and evaluation methods are proposed to facilitate the development of personalized treatment and precision medicine.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2023)
Article
Respiratory System
Ignacio Blanco, Isidro Diego, Cesar Castanon, Patricia Bueno, Marc Miravitlles
Summary: The prevalence of a1-antitrypsin PI*ZZ genotypes in patients with COPD is only partially known. We aimed to estimate this prevalence worldwide. A systematic review of the literature was conducted for studies investigating the prevalence of COPD and the prevalence of severe alpha-1-antitrypsin deficiency (AATD) PI*ZZ genotype. The results showed that severe AATD is associated with a significant number of cases of COPD, especially in Europe, USA, Canada, New Zealand and Australia.
ARCHIVOS DE BRONCONEUMOLOGIA
(2023)
Letter
Respiratory System
Marc Miravitlles, Alice M. Turner, Maria Torres-Duran, Hanan Tanash, Carlota Rodriguez-Garcia, Jose Luis Lopez-Campos, Jan Chlumsky, Catarina Guimaraes, Juan Luis Rodriguez-Hermosa, Angelo Corsico, Cristina Martinez-Gonzalez, Jose Maria Hernandez-Perez, Ana Bustamante, David G. Parr, Francisco Casas-Maldonado, Ana Hecimovic, Wim Janssens, Beatriz Lara, Miriam Barrecheguren, Cruz Gonzalez, Jan Stolk, Cristina Esquinas, Christian F. Clarenbach
EUROPEAN RESPIRATORY JOURNAL
(2023)
Editorial Material
Respiratory System
M. Miravitlles, M. A. Martinez-Garcia
Article
Respiratory System
Evgeni Mekov, Marc Miravitlles, Marko Topalovic, Aran Singanayagam, Rosen Petkov
Summary: This study explores the application of machine learning in personalized medicine for COPD, aiming to accurately predict the risk for each patient and provide individualized prognosis or risk assessment based on individual characteristics.
CURRENT RESPIRATORY MEDICINE REVIEWS
(2023)
Review
Medicine, Research & Experimental
Marc Miravitlles, Mohit Bhutani, John R. Hurst, Frits M. E. Franssen, Job F. M. van Boven, Ee Ming Khoo, Jing Zhang, Stephen Brunton, Daiana Stolz, Tonya Winders, Kazuhisa Asai, Jane E. Scullion
Summary: Discharge bundles aim to optimize patient outcomes for those hospitalized with exacerbation of COPD. Although previous studies suggest their effectiveness, inconsistencies in content and implementation have been observed. To ensure high-quality care and reduce readmission rates, a comprehensive discharge protocol is proposed, along with strategies to address implementation barriers. By utilizing successful implementation strategies from other disease areas, discharge bundles can be delivered more effectively to improve patient outcomes and ensure continuity of care.
ADVANCES IN THERAPY
(2023)
Editorial Material
Critical Care Medicine
Marc Miravitlles
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2023)
Article
Respiratory System
Charlie Strange, Joseph Tkacz, Jill Schinkel, Benjamin Lewing, Barnabie Agatep, Sean Swisher, Sushma Patel, Devechio Edwards, Daniel R. Touchette, Edward Portillo, Norbert Feigler, Michael Pollack
Summary: This study assessed the benefits of promptly administering budesonide/glycopyrrolate/formoterol fumarate (BGF) following a COPD exacerbation. The results showed that prompt initiation of BGF was associated with a reduction in subsequent exacerbations and reduced healthcare utilization and costs.
INTERNATIONAL JOURNAL OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE
(2023)
Article
Medicine, General & Internal
Juan Luis Rodriguez Hermosa, Marc Miravitlles, Jose Luis Lopez-Campos, Myriam Calle Rubio
Summary: This study evaluates tobacco use and COPD knowledge among Spanish adults and compares the results with a survey conducted in 2011. The findings show a decrease in smoking prevalence and an increase in COPD awareness, but significant geographic variability exists among different regions.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Respiratory System
Marc Miravitlles, Kazuto Matsunaga, Michael Dreher
Summary: Inhaled bronchodilator therapy with long-acting muscarinic antagonists (LAMAs) and long-acting beta 2-agonists (LABAs) in combination is the main treatment for chronic obstructive pulmonary disease (COPD). However, clinicians often add inhaled corticosteroids (ICS) to LABA/LAMA even when it is not recommended, potentially leading to overuse. This review provides guidelines and recommendations for the use of add-on therapies with LABA/LAMA for different patient profiles.
THERAPEUTIC ADVANCES IN RESPIRATORY DISEASE
(2023)
Article
Respiratory System
Peter Saunders, Zhe Wu, William A. Fahy, Iain D. Stewart, Gauri Saini, David J. F. Smith, Rebecca Braybrooke, Carmel Stock, Elisabetta A. Renzoni, Simon R. Johnson, R. Gisli Jenkins, Maria G. Belvisi, Jaclyn A. Smith, Toby M. Maher, Philip L. Molyneaux
Summary: This study aims to assess the burden of cough and its impact on quality of life in newly diagnosed IPF patients. The results indicate that cough burden in IPF is high, but cough-specific quality of life does not have prognostic value and is not associated with MUC5B promoter polymorphism.
ANNALS OF THE AMERICAN THORACIC SOCIETY
(2023)