Future rare diseases最新文献

{"title":"Plain language summary: treatment of paroxysmal nocturnal hemoglobinuria with pegcetacoplan for 48 weeks (PEGASUS study)","authors":"R. D. de Latour, Jeff Szer, I. Weitz, Alexander Röth, B. Höchsmann, Jens Panse, Kensuke Usuki, Morag Griffin, J. Kiladjian, Carlos de Castro, Hisakazu Nishimori, M. Al-Adhami, Pascal Deschatelets, Cedric Francois, A. Risitano, Peter Hillmen","doi":"10.2217/ifrd-2023-0018","DOIUrl":"https://doi.org/10.2217/ifrd-2023-0018","url":null,"abstract":"Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, serious blood disease, characterized by uncontrolled activation of the complement system that causes hemolysis (destruction of red blood cells). The complement component 5 (C5) inhibitor eculizumab was the first approved treatment for PNH. The PEGASUS trial compared eculizumab with pegcetacoplan, a new complement component 3 (C3) inhibitor. Because C3 is activated before C5, blocking C3 would also block C5; thus, a C3 inhibitor might prevent hemolysis more completely than a C5 inhibitor in patients with PNH. During the first 16 weeks of PEGASUS, patients received either pegcetacoplan or eculizumab; results were published separately. This summary describes results of the following 32 weeks of PEGASUS, during which all patients received pegcetacoplan to evaluate if pegcetacoplan continued to be effective and safe for up to 48 weeks. Pegcetacoplan continued to be effective in participants who received it throughout the study and improved symptoms in participants who switched from eculizumab. The most common adverse events (side effects) were skin irritation at the injection site, hemolysis, nasopharyngitis (runny nose and sore throat), and diarrhea. Adverse events were serious and related to pegcetacoplan in 4 of 77 (5%) patients; all patients recovered from these events. Pegcetacoplan improved symptoms and was well tolerated for up to 48 weeks by most patients in PEGASUS, suggesting that adult patients with PNH may benefit from long-term pegcetacoplan treatment.","PeriodicalId":490144,"journal":{"name":"Future rare diseases","volume":"332 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141012151","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":"What is the impact of long-chain fatty acid oxidation disorders on everyday life? Plain language summary of a survey","authors":"Christy Abrams, Kristin Voorhees, Eliza Kruger","doi":"10.2217/frd-2023-0030","DOIUrl":"https://doi.org/10.2217/frd-2023-0030","url":null,"abstract":"Long-chain fatty acid oxidation disorders (LC-FAOD for short) are a group of rare conditions where the body cannot use stored fat for energy. This leads to symptoms and health problems that can be life-threatening, but the impact of LC-FAOD on the everyday life of people with LC-FAOD and their caregivers has not been well studied. We conducted a burden of illness survey in the United States of people with LC-FAOD and their caregivers to help show the impact of this condition on their everyday life. The survey had 44 people who completed the survey (respondents): 14 adults (≥18 years) living with LC-FAOD and 30 caregivers reporting on 37 people with LC-FAOD. People with LC-FAOD reported on in the survey were 8 months to 67 years old (the average age was 16 years). We found that the LC-FAOD symptoms impact people differently through the stages of life. People with LC-FAOD and their caregivers reported an impact on school and work, including missing work; the main reasons were hospitalizations (staying in the hospital as an inpatient) and physical symptoms. In addition, many people had trouble performing everyday activities, such as standing for 2 hours, walking a quarter of a mile, moving heavy objects, and doing household chores. Using a standard questionnaire, we found that the overall quality of life of people with LC-FAOD was lower than for the average American who does not have LC-FAOD. The findings from the survey help show how LC-FAOD can impact the everyday life of people living with LC-FAOD and their caregivers. The findings provide people with LC-FAOD a better understanding of their condition and what they might expect. The findings also help researchers and healthcare providers support people with an LC-FAOD and their caregivers.","PeriodicalId":490144,"journal":{"name":"Future rare diseases","volume":"16 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140673516","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":"The effects of garetosmab in people with fibrodysplasia ossificans progressiva (FOP): a plain language summary of the LUMINA-1 study","authors":"Maja Di Rocco, Robert J Pignolo, Richard Keen, Dushyanth Srinivasan, Scott J Mellis, Michelle Davis, Philippe Orcel, Christian Roux, Małgorzata Szczepanek, J. Bachiller-Corral, Angela M Cheung, Kathryn M Dahir, M. Mukaddam, Anita Boyapati, Kusha A Mohammadi, Aris N Economides, Robert J Sanchez, Dinko González Trotter, Susan Rhee, Gary A Herman, R. DelGizzi, George D Yancopoulos, E Marelise W Eekhoff, Frederick S Kaplan","doi":"10.2217/frd-2023-0028","DOIUrl":"https://doi.org/10.2217/frd-2023-0028","url":null,"abstract":"This is a plain language summary of a clinical research study called LUMINA-1. This study investigated a medicine called garetosmab in adults with fibrodysplasia ossificans progressiva, or FOP. FOP is a very rare disease that causes new bone to form in places where it does not usually develop (also known as heterotopic ossification). In FOP, when bone is formed in areas it is not supposed to, it results in mature heterotopic bone. The build-up of new bone makes it difficult for people with FOP to move, which means they often require the use of a wheelchair or other mobility aid. People with FOP who took part in the study were experiencing bone formation in areas where new bone should not form, flare-ups (episodes of localized swelling, pain, and/or warmth), and worsening joint movement. People with FOP were given garetosmab or placebo every 4 weeks as a liquid infusion through a vein for 28 weeks. After 28 weeks, those who were receiving placebo were switched to garetosmab and treated for 28 weeks. This part was known as the open-label portion of the trial, which is when all people received garetosmab treatment. Treatment with garetosmab did not change the mature heterotopic bone in people with FOP, but it did stop new bone lesions from forming in areas where they should not. Treatment with garetosmab also reduced the number of flare-ups. During the trial, common side effects were nosebleeds, loss of eyebrows or eyelashes, and skin and soft tissue infections. Five people died during the open-label portion of the trial, when all were on garetosmab. Their deaths appeared consistent with the known causes of death and life expectancy of people with FOP who were of a similar age and severity of disease. There was no clear pattern that linked the deaths with how garetosmab works. However, a causal relationship between deaths and garetosmab could not be ruled out. The LUMINA-1 study showed that in people with FOP, garetosmab stopped new heterotopic bone from developing in areas that it should not and also reduced flare-ups. This shows that garetosmab may be a useful treatment for people with FOP. More testing is needed to better understand the benefits and risks of garetosmab. Clinical Trial Registration: NCT03188666 ( ClinicalTrials.gov ) (LUMINA-1)","PeriodicalId":490144,"journal":{"name":"Future rare diseases","volume":"41 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140713812","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":"How long do the effects of gene therapy based on adeno-associated virus last? A plain language summary","authors":"Tara Moroz, Manish Muhuri, Daniel I. Levy, Martin Schulz, Laurence Woollard, Guangping Gao","doi":"10.2217/frd-2023-0027","DOIUrl":"https://doi.org/10.2217/frd-2023-0027","url":null,"abstract":"This is a summary of a review article. The article was about how long the effects of one type of gene therapy may last. Review articles summarize many published scientific articles. The original review article was published in the journal Molecular Therapy in March 2022. Genes are inside cells and carry the information that determines a person's genetic makeup and traits (for example, their features or characteristics) that they get (inherit) from their parents. People living with genetic conditions have genes that do not work (function) like they should. Gene therapies have been developed for people living with serious rare health conditions. They aim to treat the cause of the condition instead of just managing symptoms. Gene therapy is designed to add a functioning copy of the gene into a person's cells. The functioning copy of the gene is inserted into cells by vectors. Vectors are designed to act as vehicles to deliver the functioning copy of the gene into a person's cells. Often, these vectors are based on a virus because viruses are good at getting into the body. Vectors use the outer shell of the virus, but the viral genes are replaced with a therapeutic gene. Some vectors are modeled on the adeno-associated virus (AAV). This article is about AAV-based gene therapy and how long its treatment effects can last (durability or duration of treatment effect). Further research is needed to understand what can affect how long the benefits of gene therapy will last. Currently, AAV-based gene therapy can only be given once. An important aspect of successful gene therapy is its durability. Research is ongoing to find ways to increase the durability of gene therapy.","PeriodicalId":490144,"journal":{"name":"Future rare diseases","volume":"61 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140717334","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 a study looking at the long-term benefits of enzyme replacement therapy in children and teenagers with Gaucher disease type 3","authors":"Amal El-Beshlawy, A. Tylki-Szymańska, N. Belmatoug, P. Mistry","doi":"10.2217/frd-2023-0015","DOIUrl":"https://doi.org/10.2217/frd-2023-0015","url":null,"abstract":"Gaucher disease is a rare genetic condition. There are three types of Gaucher disease: type 1, type 2, and type 3 (GD3). Symptoms of GD3 include problems with the brain and spinal cord, bones, blood, enlarged liver and spleen, and slow growth. Symptoms have a great impact on the quality of life of people with GD3 and are known to cause loss of life in childhood. In Gaucher disease, people have two non-working copies of a gene called GBA, which tells the body how to make an enzyme called beta-glucosidase (which breaks down excess fats called sphingolipids). In Gaucher disease, people do not make enough beta-glucosidase enzyme, meaning sphingolipids build up inside cells, affecting many organs and systems of the body. Enzyme replacement therapy (ERT) is a treatment for Gaucher disease. Previous studies looking at ERT showed that treatment can greatly improve most symptoms and quality of life in people with Gaucher disease. How ERT may help people with GD3 is only available in small studies. Researchers looked at long-term changes in the blood, spleen, liver, and growth in children and teenagers living with GD3 and how long they survived once they had started an ERT called imiglucerase. Researchers used data from a large global database called the International Collaborative Gaucher Group (ICGG) Gaucher Registry. The aim was to investigate if imiglucerase could improve long-term symptoms and prevent early loss of life. Low red blood cell counts (causing a condition called anaemia), low platelet (specialised blood cells that stop bleeding and bruising) counts, enlarged liver and spleen, and slow growth were the most common symptoms in people with GD3 before treatment. People with GD3 who had received imiglucerase had improved symptoms after 5 years of treatment. They also had a greater chance of living longer, with 92% of people alive after 5 years of treatment. These results show that the ERT imiglucerase helps to improve blood, spleen, liver, and growth symptoms, and most importantly that it is a life-prolonging treatment.","PeriodicalId":490144,"journal":{"name":"Future rare diseases","volume":"22 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139861207","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 a study looking at the long-term benefits of enzyme replacement therapy in children and teenagers with Gaucher disease type 3","authors":"Amal El-Beshlawy, A. Tylki-Szymańska, N. Belmatoug, P. Mistry","doi":"10.2217/frd-2023-0015","DOIUrl":"https://doi.org/10.2217/frd-2023-0015","url":null,"abstract":"Gaucher disease is a rare genetic condition. There are three types of Gaucher disease: type 1, type 2, and type 3 (GD3). Symptoms of GD3 include problems with the brain and spinal cord, bones, blood, enlarged liver and spleen, and slow growth. Symptoms have a great impact on the quality of life of people with GD3 and are known to cause loss of life in childhood. In Gaucher disease, people have two non-working copies of a gene called GBA, which tells the body how to make an enzyme called beta-glucosidase (which breaks down excess fats called sphingolipids). In Gaucher disease, people do not make enough beta-glucosidase enzyme, meaning sphingolipids build up inside cells, affecting many organs and systems of the body. Enzyme replacement therapy (ERT) is a treatment for Gaucher disease. Previous studies looking at ERT showed that treatment can greatly improve most symptoms and quality of life in people with Gaucher disease. How ERT may help people with GD3 is only available in small studies. Researchers looked at long-term changes in the blood, spleen, liver, and growth in children and teenagers living with GD3 and how long they survived once they had started an ERT called imiglucerase. Researchers used data from a large global database called the International Collaborative Gaucher Group (ICGG) Gaucher Registry. The aim was to investigate if imiglucerase could improve long-term symptoms and prevent early loss of life. Low red blood cell counts (causing a condition called anaemia), low platelet (specialised blood cells that stop bleeding and bruising) counts, enlarged liver and spleen, and slow growth were the most common symptoms in people with GD3 before treatment. People with GD3 who had received imiglucerase had improved symptoms after 5 years of treatment. They also had a greater chance of living longer, with 92% of people alive after 5 years of treatment. These results show that the ERT imiglucerase helps to improve blood, spleen, liver, and growth symptoms, and most importantly that it is a life-prolonging treatment.","PeriodicalId":490144,"journal":{"name":"Future rare diseases","volume":"63 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139801470","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":"Living with lung complications of sarcoidosis","authors":"Divya C. Patel, Kathryn Washington","doi":"10.2217/frd-2023-0008","DOIUrl":"https://doi.org/10.2217/frd-2023-0008","url":null,"abstract":"Sarcoidosis is an inflammatory condition that can affect any part of the body, but most commonly affects the lungs. Many people with lung (pulmonary) sarcoidosis have manageable disease that does not impact them in the long term. However, some patients with pulmonary sarcoidosis develop complications that cause long-term (chronic) symptoms, such as shortness of breath and cough. These symptoms impair quality of life and may impair a person's ability to complete everyday activities at work and at home. Complications of pulmonary sarcoidosis also worsen the outcome of the disease (prognosis). It is important for patients with sarcoidosis to be aware of the journey that they may face with the disease so that they can better understand their condition and be part of decisions about their care. This article, co-authored by an experienced clinician and a patient, provides information for patients living with pulmonary sarcoidosis.","PeriodicalId":490144,"journal":{"name":"Future rare diseases","volume":"44 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139869887","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":"Living with lung complications of sarcoidosis","authors":"Divya C. Patel, Kathryn Washington","doi":"10.2217/frd-2023-0008","DOIUrl":"https://doi.org/10.2217/frd-2023-0008","url":null,"abstract":"Sarcoidosis is an inflammatory condition that can affect any part of the body, but most commonly affects the lungs. Many people with lung (pulmonary) sarcoidosis have manageable disease that does not impact them in the long term. However, some patients with pulmonary sarcoidosis develop complications that cause long-term (chronic) symptoms, such as shortness of breath and cough. These symptoms impair quality of life and may impair a person's ability to complete everyday activities at work and at home. Complications of pulmonary sarcoidosis also worsen the outcome of the disease (prognosis). It is important for patients with sarcoidosis to be aware of the journey that they may face with the disease so that they can better understand their condition and be part of decisions about their care. This article, co-authored by an experienced clinician and a patient, provides information for patients living with pulmonary sarcoidosis.","PeriodicalId":490144,"journal":{"name":"Future rare diseases","volume":"118 14","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139810044","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":"A plain language summary of AAV-based gene therapy: challenges and potential solutions for people with antibodies against AAV","authors":"Tara Moroz, Martin Schulz, Daniel I. Levy, G. Bashirians, Ian Winburn, Matthias Mahn, S. Somanathan, Seng H. Cheng, Shandra J. Trantham, Barry J. Byrne","doi":"10.2217/frd-2023-0020","DOIUrl":"https://doi.org/10.2217/frd-2023-0020","url":null,"abstract":"This is a summary of a review article about gene therapy. Review articles summarize many previously published scientific articles. The review was about how a common virus could change how one type of gene therapy works. It also discussed the importance of antibody testing for people who may receive gene therapy. The original review was published in Molecular Therapy in 2023. Gene therapy is a type of medical treatment. The goal of a specific gene therapy is to treat a specific genetic condition. A genetic condition is a health problem caused by a variation (change or mutation) in a gene or genes. Genes are instructions that tell the body how to grow and work. Some genetic conditions can cause rare diseases. A rare disease affects only a very small percentage of people. Gene therapy may help people with some rare diseases because it aims to correct the root cause of the condition instead of just treating symptoms. Gene therapies work by getting into the cells in a person's body. Many gene therapies are modeled after viruses because viruses are good at getting into the body. One of the viruses used in gene therapy is called adeno-associated virus (AAV for short). This naturally occurring virus infects many people. People can get infected without realizing it because AAV doesn't typically make a person sick. After being infected with a virus, people make antibodies to fight off that virus. These antibodies can prevent another infection. Antibodies that fight off natural AAV may prevent gene therapy based on AAV from working as it should. A common reason why people may not be able to receive gene therapy is because they have antibodies against AAV. This means that some people with some genetic conditions or rare diseases may not be able to benefit from gene therapy. Researchers are trying to understand how antibodies against AAV can prevent gene therapy from working. They are also studying what side effects they may cause. This research is important for people with a genetic condition or rare disease that may be treated with gene therapy. People who have a certain level of antibodies against AAV might not be able to take part in gene therapy clinical trials. They might not be able to receive AAV-based gene therapies that have been approved for commercial use by a regulatory agency such as the FDA (Food and Drug Administration) or EMA (European Medicines Agency). For most gene therapies, people need to be tested for antibodies against AAV. There are two different types of tests that measure if someone has antibodies against AAV. Researchers are looking at ways to lower the effects of antibodies against AAV. This research could allow more people to have gene therapy in the future.","PeriodicalId":490144,"journal":{"name":"Future rare diseases","volume":"19 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139003669","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":"Creld1 Warriors: arming parents with the support they need","authors":"Adam Clatworthy","doi":"10.2217/frd-2023-0026","DOIUrl":"https://doi.org/10.2217/frd-2023-0026","url":null,"abstract":"Adam Clatworthy, a communications professional at a technology firm, talks about the importance of parents and patients – who are experts in the complex conditions and symptoms of rare diseases that they live with – working together with clinicians to help deliver diagnoses.","PeriodicalId":490144,"journal":{"name":"Future rare diseases","volume":"105 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138590595","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}