Future Rare Diseases最新文献

{"title":"Multisegmental gastrointestinal dysmotilities: a surgical scenario for future implementation of theranostic devices","authors":"J. F. Schiemer, Karen Stumm, Klaus-Peter Hoffmann, Gesa Kolck, Hauke Lang, Stefan Farkas, Jan Baumgart, Werner Kneist","doi":"10.1080/23995270.2024.2375192","DOIUrl":"https://doi.org/10.1080/23995270.2024.2375192","url":null,"abstract":"","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"94 18","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141812557","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":"Understanding pulmonary complications of rheumatoid arthritis: a patient and rheumatologist perspective","authors":"Heather Gladue, Walter Lynn Samples","doi":"10.1080/23995270.2024.2375189","DOIUrl":"https://doi.org/10.1080/23995270.2024.2375189","url":null,"abstract":"","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"130 28","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141811645","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":"Impact of itch on quality of life in people with primary biliary cholangitis: A plain language summary","authors":"Marlyn J Mayo, Elizabeth Carey, Helen T Smith, Andrea R Mospan, Megan M McLaughlin, April Thompson, Heather L Morris, Robert A Sandefur, Christopher L Bowlus, Cynthia Levy","doi":"10.2217/frd-2023-0016","DOIUrl":"https://doi.org/10.2217/frd-2023-0016","url":null,"abstract":"What is this summary about? This is a summary of an article about people with primary biliary cholangitis (PBC) who also suffer from itch. PBC is a disease that affects the liver; itching is common in PBC and can dramatically reduce a person's quality of life. People in a study called TARGET-PBC filled in surveys about their PBC symptoms, including itching, and the effects the symptoms had on their lives. Information was also collected on the medications people were taking for their PBC and itch. What were the results? Out of 211 people with PBC who filled in the surveys, 170 (81%) had itching. More than one-third of them (37%) had itch that was clinically significant. Clinically significant itch has been defined as an itch that sometimes affects a person's sleep, makes them scratch until their skin is raw, or causes embarrassment. These people would benefit from a discussion about treatment options. Clinically significant itch was linked with worse scores on the surveys, meaning poorer quality of life. This link was true for all areas looked at, but particularly for social aspects and cognition, such as memory and concentration. Sleep was affected in most people with clinically significant itch and there were high levels of fatigue. People with clinically significant itch were more likely to be taking anti-itch medication compared with those with mild itch, but onethird of them still had not received any treatment for itch. When itch medication was used, the stepwise guidelines suggested by specialty professional societies was not usually followed. What do the results mean? Itching is problematic for the people in this study. Those with clinically significant itch have a worse quality of life compared with those with mild itch and this affects all areas of their life measured. The study also shows that people do not always receive medication for their itch, and that treatment guidelines are not always followed.","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"102 7","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135137865","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 whether genetic testing can help doctors diagnose the severity of mucopolysaccharidosis type I (MPS I)","authors":"Lorne A Clarke, Roberto Giugliani, Joseph Muenzer","doi":"10.2217/frd-2023-0013","DOIUrl":"https://doi.org/10.2217/frd-2023-0013","url":null,"abstract":"What is MPS I & what is this study about? Mucopolysaccharidosis type I (MPS I) is a rare genetic condition, resulting from disease-causing changes in the IDUA gene called pathogenic variants. There are two different types of variants: Null variants – cells cannot make the alpha-L-iduronidase enzyme Missense variants – cells make a partly functional or severely reduced amount of the fully functional enzyme The alpha-L-iduronidase enzyme breaks down large sugar molecules called glycosaminoglycans (GAGs). In people with MPS I, the enzyme is unable to break down GAGs and they build up in cells. Based on the severity of the condition, doctors categorise MPS I into two types, called phenotypes: Attenuated MPS I Severe MPS I Treatment options differ depending on MPS I phenotype. There are currently no tests that accurately determine MPS I phenotype. Using information from the MPS I Registry, researchers wanted to find out whether knowing the specific combination of the 2 disease-causing gene variants (genotype) can help predict whether a person has an attenuated or severe phenotype. What were the results? In people with attenuated MPS I: 19 in 20 had genotypes where at least one of the gene copies was a missense variant. The cell makes a partly functional or a severely reduced amount of the fully functional enzyme, and is unable to completely break down GAG No-one had 2 null variants 2 in 5 had unique genotypes (their genotype was only seen in one person) In people with severe MPS I: 2 in 3 had genotypes where both copies of the gene contained null variants. The cell is not able to make any enzyme 1 in 5 had unique genotypes What do the results mean? This study showed that genotype can predict phenotype in some people with MPS I. For example, if a person has inherited two copies of the genes containing null variants, they will have severe MPS I. However, due to the large number of unique gene variants found in this study, doctors cannot predict the severity of MPS I from just the genotype for some people.","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":" 10","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135243570","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 the GENEr8-1 clinical trial of valoctocogene roxaparvovec gene therapy for hemophilia A","authors":"Gillian Lowe, Simon Fletcher, Patrick James Lynch, Johnny Mahlangu, Margareth C Ozelo, Luke Pembroke, Steven W Pipe, Gabriela G Yamaguti-Hayakawa, Deon York, Tara M Robinson, Hua Yu, Leonard A Valentino","doi":"10.2217/frd-2023-0007","DOIUrl":"https://doi.org/10.2217/frd-2023-0007","url":null,"abstract":"What is this summary about? In healthy people, a protein called factor VIII (FVIII) helps blood to clot and prevents excessive bleeding. People with hemophilia A lack FVIII because a faulty F8 gene is giving the wrong instructions to the liver cells that make it. Valoctocogene roxaparvovec (ROCTAVIAN™) is a gene therapy designed to transfer working copies of the F8 gene into liver cells. This summary describes the GENEr8-1 study, which looked at how well valoctocogene roxaparvovec works for treating people with severe hemophilia A compared with their usual FVIII replacement therapy, and its safety. 134 men received valoctocogene roxaparvovec; results from the first 2 years are reported. What were the results? Valoctocogene roxaparvovec significantly improved bleed control in men with severe hemophilia A. A single infusion reduced average treated bleeding episodes per year from almost 5 while on FVIII prophylaxis to less than one after gene therapy. Eight out of every 10 participants had no bleeds needing treatment and 9 out of every 10 had no joint bleeds needing treatment; FVIII levels improved to normal or mild hemophilia ranges. All except 6 participants remained off regular FVIII prophylaxis for at least 2 years. All participants had at least one side effect and 22 (16%) reported serious adverse events. Nine out of every 10 participants (89%) showed increased blood levels of liver enzymes, indicating an expected immune response to the product's viral shell; this was manageable with steroids. Other common side effects included headache (41%), joint pain (40%), feeling sick (38%), and side effects to steroids (60%). What do the results mean? After a one-time dose of valoctocogene roxaparvovec, people with severe hemophilia A start producing their own FVIII and require fewer or no FVIII injections to protect them from bleeds. Results showing bleed control for at least 2 years have led to approvals of valoctocogene roxaparvovec in Europe and the USA for use in adults with severe hemophilia A who do not have antibodies against FVIII or AAV type 5. How well valoctocogene roxaparvovec works and the side effects over a longer period are still being studied. Clinical Trial Registration: NCT03370913 (GENEr8-1 study) ( ClinicalTrials.gov )","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"55 4","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135934364","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":"From older to younger: intergenerational promotion of health behaviours in Portuguese families affected by familial amyloid polyneuropathy – Plain Language Summary","authors":"Carla Roma Oliveira, Álvaro Mendes, Isabelle Lousada, Liliana Sousa","doi":"10.2217/frd-2023-0021","DOIUrl":"https://doi.org/10.2217/frd-2023-0021","url":null,"abstract":"What is this summary about? This is a plain language summary of an article originally published in European Journal of Human Genetics. Transthyretin amyloidosis (ATTR) is a disease that affects the heart and nerves of those it afflicts. One inherited form of ATTR is particularly common among people of Portuguese descent and presents primarily as a neurologic disease termed familial amyloid polyneuropathy (FAP). What were the results? This study showed the relevance of communication from older to younger generations, primarily women, among Portuguese families with FAP. There were 4 major patterns of communication, which were in general supportive and informative. This study suggests opportunities for healthcare providers to help their patients regarding communications of inherited diseases within their families. What do the results mean? This study showed the benefits of positive intergenerational communications when discussing inherited diseases in families.","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"226 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135216895","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":"Pegcetacoplan compared with supportive care for 26 weeks for participants with paroxysmal nocturnal hemoglobinuria: a plain language summary","authors":"Raymond Siu Ming Wong, Juan Ramon Navarro-Cabrera, Narcisa Sonia Comia, Yeow Tee Goh, Henry Idrobo, Daolada Kongkabpan, David Gómez-Almaguer, Mohammed Al-Adhami, Temitayo Ajayi, Paulo Alvarenga, Jessica Savage, Pascal Deschatelets, Cedric Francois, Federico Grossi, Teresita Dumagay","doi":"10.2217/frd-2023-0006","DOIUrl":"https://doi.org/10.2217/frd-2023-0006","url":null,"abstract":"What is this summary about? This plain language summary describes the phase 3 PRINCE study. The study looked at adults with paroxysmal nocturnal hemoglobinuria (PNH), a rare blood disorder that is acquired (not inherited), usually during adulthood. PNH causes hemolysis, which is the destruction of red blood cells. The PRINCE study compared a new medicine, pegcetacoplan, with the older treatment of supportive care (includes red blood cell blood transfusions; blood thinners; steroid medicines; and supplements, like iron, folate or vitamin B12). Supportive care was the standard treatment worldwide until eculizumab, the first C5 complement inhibitor medicine, was approved by the United States Food and Drug Administration and the European Medicines Agency in 2007 for the treatment of PNH. Supportive care is still the standard treatment for PNH in countries where C5 complement inhibitor medicines are not available. The PRINCE trial aimed to show if pegcetacoplan reduced hemolysis and if side effects occurred with pegcetacoplan in patients who had not received C5 complement inhibitor medicines recently. How was the study carried out? Participants were adults with PNH and anemia. Anemia was defined as a hemoglobin level of less than 13.6 grams per deciliter of blood for men and less than 12.0 grams per deciliter of blood for women. Hemoglobin is a protein inside red blood cells. Participants in the trial had not recently been treated with a C5 complement inhibitor medicine (eculizumab or ravulizumab). The participants were split into 2 groups: a pegcetacoplan group and a supportive care group. 35 participants received pegcetacoplan for 26 weeks, and 18 participants received supportive care. Those who received supportive care could switch to pegcetacoplan if their anemia got worse. Researchers monitored the participants' blood markers for hemolysis, how participants felt during the trial and the participants' side effects. The study started in 2019 and ended in 2021. What were the results? Participants who received pegcetacoplan had fewer signs of hemolysis after 26 weeks of treatment with pegcetacoplan compared with participants who received supportive care. Although participants in both groups had side effects, most were not serious. No serious side effects were related to pegcetacoplan. What do the results show? These results show that pegcetacoplan reduced hemolysis in adults with PNH better than supportive care. None of the side effects related to pegcetacoplan were serious. Results from the PRINCE study were published in Blood Advances in 2023.","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136114529","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":"Treatment with marstacimab for people with severe hemophilia A or B: a plain language summary","authors":"Johnny N Mahlangu, Jose Luis Lamas, Juan Cristobal Morales, D. Malan, S. Z. Šalek, Michael Wang, Lisa N. Boggio, Inga Hegemann, Andrzej Mital, M. Cardinal, Tong Zhu, P. Sun, John Teeter, R. Charnigo, Eunhee Hwang, Steven Arkin","doi":"10.2217/frd-2023-0004","DOIUrl":"https://doi.org/10.2217/frd-2023-0004","url":null,"abstract":"This is a summary of the results from two clinical studies of treatment for men with severe hemophilia A or B. The studies were published in the British Journal of Haematology. People with hemophilia either have low amounts of clotting factors or are missing certain clotting factors in their blood. The severity of hemophilia is found out by a blood test. There are medicines that people with hemophilia can take to replace the missing clotting factor. However, sometimes the body thinks the clotting factor used to treat hemophilia is a foreign substance and produces antibodies to destroy it (called inhibitors) which may slow down or stop blood clotting. The studies showed that men with hemophilia had fewer bleed events while taking marstacimab than before this treatment. The results were similar for all doses of marstacimab tested. Overall, the side effects with marstacimab were generally acceptable. Two men had to stop taking marstacimab because of side effects in the short-term study. The most common side effects were high blood pressure and injection site reactions. Most of these reactions were mild or moderate. These studies showed that marstacimab could help prevent bleeding in men with hemophilia A or B, with or without inhibitors. The results of this study may differ from those of other studies. Physicians should make treatment decisions based on all available evidence and not just on the results of a single study. Larger studies of marstacimab involving more people with hemophilia A or B have started.","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"22 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115824054","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 results from the LAVENDER study: trofinetide treatment for Rett syndrome","authors":"J. Neul, A. Percy, T. Benke, E. Berry-Kravis, D. Glaze, V. Abler, Tim T Z Lin, Kathie M Bishop, J. Youakim","doi":"10.2217/frd-2023-0010","DOIUrl":"https://doi.org/10.2217/frd-2023-0010","url":null,"abstract":"This is a summary of an article about the LAVENDER study, which was published in Nature Medicine in June 2023. The study involved girls and young women with a rare genetic condition called Rett syndrome, which affects the way the brain develops. Researchers wanted to find out if a drug called trofinetide could improve the symptoms of Rett syndrome. A total of 187 girls and young women took trofinetide (brand name DAYBUE™) liquid or a placebo (something that looks the same as the trofinetide liquid but does not contain medicine) 2 times a day either by drinking it or through a tube into the stomach called a gastrostomy tube (g-tube). Changes in Rett syndrome symptoms were looked for by study doctors for 12 weeks by using a rating scale called the Clinical Global Impression–Improvement (CGI–I) and by caregivers (usually a parent) who completed a questionnaire called the Rett Syndrome Behaviour Questionnaire (RSBQ). Caregivers were also asked to rate communication and social interaction skills, which resulted in the ‘Social Composite’ score on a questionnaire called the Communication and Symbolic Behavior Scales Developmental Profile™ Infant–Toddler (CSBS-DP-IT) checklist. After 12 weeks of treatment, girls and young women who received trofinetide had greater improvements in their symptoms than those who took the placebo, as rated by the RSBQ and CGI–I. Participants who took trofinetide could communicate better than participants who took the placebo as rated on the CSBS–DP–IT Social Composite scale. The differences between trofinetide and the placebo were statistically significant, which means that it was unlikely that the benefit seen with trofinetide was caused by chance. The most common side effects in the trofinetide group were diarrhea (frequent watery bowel movements) and vomiting, and in almost all cases these were mild or moderate. In the LAVENDER study, trofinetide helped girls and young women with Rett syndrome by improving several important symptoms. This is the first study to show that a medicine, trofinetide, improves the symptoms of Rett syndrome. Clinical Trial Registration: NCT04181723 (LAVENDER) ( ClinicalTrials.gov )","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"49 4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115286393","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":"Recommendations for managing diarrhea from trofinetide use in individuals with Rett syndrome: a plain language summary","authors":"K. Motil, A. Beisang, T. Benke, Brian Gaucher, V. Abler, Dominique C. Pichard","doi":"10.2217/frd-2023-0011","DOIUrl":"https://doi.org/10.2217/frd-2023-0011","url":null,"abstract":"Rett syndrome is a rare genetic disorder that affects the way the brain develops. The medication trofinetide (DAYBUE™) was studied in a large clinical trial called LAVENDER, where it showed a benefit in reducing symptoms of Rett syndrome versus placebo (placebo did not contain medication but looked the same as trofinetide and was taken in the same way). The most common side effect in the trial was diarrhea (frequent and/or watery bowel movements). In order to help caregivers and healthcare providers, experts created recommendations on how to prevent and manage diarrhea if it occurs during trofinetide treatment. In the LAVENDER trial, no characteristics were found that could help to identify people who may develop diarrhea when taking trofinetide. The diarrhea management recommendations include: Keep a diary of the frequency (how often) of bowel movements and their consistency (shape, hardness/softness) before starting trofinetide On starting trofinetide, discuss stopping or reducing medicines for constipation with the healthcare provider             – Ask the healthcare provider to swap other liquid medications with sugar alcohols to a pill form if possible             – Introduce dietary fiber At the first sign of diarrhea, contact the healthcare provider and start antidiarrheal medication             – A stool (feces) diary should be kept, noting frequency and consistency along with monitoring how much liquid the person is drinking Follow a regular diet when taking trofinetide             – Those with mild dehydration can be given an oral rehydration solution, but the healthcare provider should be contacted for moderate or severe dehydration These practical recommendations may help caregivers to manage diarrhea so people can continue to take trofinetide, allowing individuals with Rett syndrome and their caregivers to experience its benefits.","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128832867","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}