Future Rare Diseases最新文献

{"title":"Improvement in symptoms of Rett syndrome with trofinetide beyond clinical trial efficacy assessments: case reports","authors":"Robin C. Ryther, Christine Palladino, Sanjeev V Kothare","doi":"10.1080/23995270.2024.2375191","DOIUrl":"https://doi.org/10.1080/23995270.2024.2375191","url":null,"abstract":"","PeriodicalId":502304,"journal":{"name":"Future Rare Diseases","volume":"20 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141647922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Supporting positive patient experiences for rare disease care during disruptive times: findings from a national study","authors":"S. Kellett, V. Tadic, H. Petrushkin, Jane Ashworth, Alan Connor, E. McLoone, Srilakshmi Sharma, E. Agorogiannis, Patrick Watts, Edward Hughes, Ailsa Ritchie, Rachel Pilling, J. Benzimra, Catherine Marsh, Daniel Pharoah, Jessy Choi, Andrew D Dick, J. Rahi, A. L. Solebo","doi":"10.1080/23995270.2024.2366153","DOIUrl":"https://doi.org/10.1080/23995270.2024.2366153","url":null,"abstract":"","PeriodicalId":502304,"journal":{"name":"Future Rare Diseases","volume":"106 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141682802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Managing high blood sugar (hyperglycemia) during pasireotide treatment: A plain language summary of the B2219 study","authors":"S. L. Samson, U. Feldt-Rasmussen, Shao-Ling Zhang, Yerong Yu, Przemysław Witek, Pramila Kalra, Marek Bolanowski","doi":"10.2217/frd-2023-0025","DOIUrl":"https://doi.org/10.2217/frd-2023-0025","url":null,"abstract":"Pasireotide is a medication used to treat people with acromegaly or Cushing's disease, both of which are hormonal disorders caused by a non-cancerous tumor (adenoma) in the pituitary gland. Because of the way pasireotide works to treat these conditions, sometimes blood sugar levels can increase during treatment, causing a side effect known as hyperglycemia. This is a summary about a study called B2219 (ClinicalTrials.gov ID: NCT02060383), which was designed specifically to look at which additional medication(s) work(s) best to reduce blood sugar levels (antihyperglycemic medication) for people who require treatment for hyperglycemia while receiving pasireotide. Researchers found that 4 in every 10 people who took part in the; study did not develop hyperglycemia and therefore did not require antihyperglycemic medication. For those who did, metformin was a good treatment option, followed by incretin-based therapy (sitagliptin and/or liraglutide) if hyperglycemia continued. This study shows that if hyperglycemia occurs during pasireotide treatment, it is manageable in most people. As such, people with acromegaly or Cushing's disease can experience long-term treatment benefits with pasireotide. Clinical Trial Registration: NCT02060383 ( ClinicalTrials.gov ) (B2219 study); 2012-002916-16 (B2219 study)","PeriodicalId":502304,"journal":{"name":"Future Rare Diseases","volume":"12 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140229574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spesolimab treatment for the prevention of flares in people with generalized pustular psoriasis (GPP): a plain language summary of the Effisayil™ 2 study","authors":"Akimichi Morita, Bruce Strober, A. D. Burden, S. Choon, Milan J Anadkat, S. Marrakchi, Tsen-Fang Tsai, Kenneth B Gordon, Diamant Thaçi, Min Zheng, Na Hu, T. Haeufel, C. Thoma, Mark G Lebwohl","doi":"10.2217/frd-2023-0023","DOIUrl":"https://doi.org/10.2217/frd-2023-0023","url":null,"abstract":"Generalized pustular psoriasis (shortened to GPP) is a rare, potentially life-threatening disease in which pus-filled blisters or pustules may suddenly form all over the body. The drug spesolimab has been approved to treat worsening GPP (known as flares) in many countries. However, it was not known if spesolimab could prevent the symptoms of GPP. This summary reports the results from a clinical study called Effisayil™ 2, that was done to understand if spesolimab was a safe and effective way to prevent flares in people with GPP. In the study, 123 participants, recruited in 20 different countries, were given one of three different doses of spesolimab (low, medium, or high) or a non-active medicine (placebo) over 48 weeks. Participants who received spesolimab had fewer GPP flares over the course of the 48-week study. Different doses of the drug were tested and compared to placebo, and a high dose of spesolimab worked better than low and medium doses. Using spesolimab also reduced the chance of developing skin symptoms, such as redness or pustules, and prevented quality of life getting worse over 48 weeks. While some participants experienced unwanted effects, they were mostly mild or moderate and most did not appear to be caused by spesolimab, or the dose at which it was given. The results indicate that a high dose of spesolimab works well to prevent GPP flares and stop the disease getting worse. Health authorities are looking at the results of this study to decide if spesolimab can also be prescribed for the prevention of GPP flares.","PeriodicalId":502304,"journal":{"name":"Future Rare Diseases","volume":"41 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140437480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Study design of BI 1015550 for idiopathic pulmonary fibrosis and progressive pulmonary fibrosis: a plain language summary","authors":"Toby M. Maher, Arata Azuma, Vincent Cottin, S. Assassi, A. Hoffmann-Vold, Michael Kreuter, Fernando J. Martinez, J. Oldham, Claudia Valenzuela, M. Wijsenbeek, Yi Liu, D. Wachtlin, S. Stowasser, D. Zoz, Luca Richeldi","doi":"10.2217/frd-2023-0001","DOIUrl":"https://doi.org/10.2217/frd-2023-0001","url":null,"abstract":"Two ongoing clinical studies are part of a programme called FIBRONEER. The FIBRONEER studies are testing the drug BI 1015550 as a treatment for people with idiopathic pulmonary fibrosis (IPF) and people with progressive pulmonary fibrosis (PPF). IPF is a severe lung disease where scar tissue builds up in the lungs. The ‘idiopathic’ part means that doctors do not know the cause of the lung scarring. PPF is a general term to describe the worsening of lung scarring in any disease where scar tissue forms in the lungs, both from known causes such as other underlying diseases and for unknown reasons. While IPF can be considered to be a typical form of worsening lung scarring, in clinical studies, IPF and PPF are usually considered separately. In both IPF and PPF, scar tissue builds up in the lungs, making them smaller and no longer able to take in oxygen well. This leads to difficulty in breathing and getting oxygen to the tissues, making it difficult to perform daily activities and reducing the patient's quality of life. The symptoms and outcomes of PPF are often similar to IPF. BI 1015550 is a new study drug being developed to reduce scarring in the lungs in IPF and PPF. In the FIBRONEER studies, some participants are taking BI 1015550 and others are taking placebo. The placebo looks identical to BI 1015550 but does not contain any medicine. Researchers will compare the study drug to placebo to find out how well the study drug works. Participants may also take another approved medicine to treat their lung scarring. The FIBRONEER studies are investigating the effects of BI 1015550 alone and in combination with any existing medicines the participants are taking. The goal is to see whether BI 1015550 can slow down or stop a decline in lung function in people with IPF and PPF, and how well it is tolerated.","PeriodicalId":502304,"journal":{"name":"Future Rare Diseases","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140451048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plain language summary of efanesoctocog alfa for patients with severe hemophilia A","authors":"A. Drygalski, P. Chowdary, Roshni Kulkarni, Sophie Susen, Barbara A. Konkle, Johannes Oldenburg, Davide Matino, R. Klamroth, Angela C Weyand, V. Jiménez‐Yuste, Keiji Nogami, Bent Winding, Annemieke Willemze, Karin Knobe","doi":"10.2217/frd-2023-0024","DOIUrl":"https://doi.org/10.2217/frd-2023-0024","url":null,"abstract":"This is a plain language summary of a clinical research study called XTEND-1. The study looked into how safe and effective a medicine called efanesoctocog alfa is for people with severe hemophilia A. Hemophilia A is a genetic condition in which the body does not produce enough or makes dysfunctional clotting factor VIII (eight) – a protein that is essential for blood clotting. People with hemophilia A are prone to dangerous bleeding, particularly internally and into their joints and muscles. The XTEND-1 study compared two ways of using the medication to treat bleeding episodes: (1) injecting it once a week for 12 months as a prophylaxis (regular preventative) treatment, or (2) injecting it as needed for 6 months, followed by weekly prophylaxis treatment for a further 6 months. People who had prophylaxis treatment with efanesoctocog alfa injections for one year saw a significant reduction in the amount of bleeding they experienced compared to their pre-study prophylaxis treatment. The effects of the treatment also lasted longer, with higher factor VIII levels for longer, than previous prophylaxis treatment and less frequent injections were needed. There was a significant reduction in the amount of bleeding in people taking once-weekly prophylaxis treatment compared to ‘as needed’ treatment.","PeriodicalId":502304,"journal":{"name":"Future Rare Diseases","volume":"23 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139594181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Garadacimab for the prevention of hereditary angioedema attacks: a plain language summary of the VANGUARD study","authors":"Timothy J Craig, Avner Reshef, H. H. Li, J. Jacobs, Jonathan A Bernstein, Henriette Farkas, William H. Yang, Erik S G Stroes, Isao Ohsawa, R. Tachdjian, Michael E Manning, W. Lumry, I. M. Saguer, E. Aygören‐Pürsün, Bruce Ritchie, Gordon L. Sussman, John T. Anderson, K. Kawahata, Yusuke Suzuki, Petra Staubach, Regina Treudler, H. Feuersenger, L. Wieman, Iris Jacobs, Markus Magerl","doi":"10.2217/frd-2023-0022","DOIUrl":"https://doi.org/10.2217/frd-2023-0022","url":null,"abstract":"This summarizes an article about the clinical study ‘VANGUARD’ that was published in The Lancet journal in February 2023. Hereditary angioedema (HAE) is a rare genetic disease that causes swellings throughout the body (called HAE attacks). HAE attacks in the upper airways (including the tongue and vocal cords) can be life threatening by making breathing difficult. HAE attacks may occur frequently and without warning, and people with HAE have a lower quality of life than other people. In the VANGUARD study, researchers tested the safety of a new medicine called garadacimab and whether it could prevent HAE attacks. Garadacimab was injected subcutaneously (just under the skin) with a needle once a month. In the VANGUARD study, patients took garadacimab or placebo (an identical-looking dummy substance with no medical effect, used for comparison). The aim was to see if garadacimab could prevent HAE attacks better than placebo. Patients taking garadacimab had very few or no HAE attacks, but those taking placebo carried on having attacks. Garadacimab gave protection from HAE attacks shortly after it was first used, and this carried on for the 6 months of treatment. Most patients taking garadacimab (62%) had no HAE attacks throughout the 6 months of treatment (were attack free), but 100% of patients taking placebo had HAE attacks throughout the study. More patients taking garadacimab (82%) than placebo (33%) had a ‘good’ or ‘excellent’ experience living with HAE. Patients taking garadacimab and placebo had similar rates of side effects. Only 5% (2 out of 39) of patients taking garadacimab had discomfort or skin changes at the place of injection compared with 12% (3 out of 25) taking placebo. Taking garadacimab once a month helps prevent HAE attacks from happening, with most patients being attack free throughout the 6 months of treatment. Garadacimab had very few and mostly mild or moderate side effects. Overall, garadacimab is a beneficial treatment for preventing HAE attacks.","PeriodicalId":502304,"journal":{"name":"Future Rare Diseases","volume":"40 11‐12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139164450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}