Future Rare Diseases最新文献

{"title":"Plain language summary of PEGASUS, a study comparing pegcetacoplan with eculizumab for 16 weeks in people with paroxysmal nocturnal hemoglobinuria","authors":"M. Griffin, J. Szer, I. Weitz, A. Röth, B. Höchsmann, J. Panse, K. Usuki, P. Hillmen, J. Kiladjian, C. D. Castro, H. Nishimori, L. Tan, Pascal Deschatelets, C. Francois, F. Grossi, T. Ajayi, A. Risitano, Régis Peffault de la Tour","doi":"10.2217/frd-2023-0005","DOIUrl":"https://doi.org/10.2217/frd-2023-0005","url":null,"abstract":"This plain language summary is about a phase 3 clinical trial called PEGASUS. The PEGASUS trial studied adults with paroxysmal nocturnal hemoglobinuria (PNH), a rare blood disorder usually acquired in adulthood without a known cause. Patients with PNH have defects in the complement system, which is part of the immune defense system. This complement defect results in the destruction of red blood cells; this is called hemolysis. Hemolysis then causes anemia. People with anemia do not have enough red blood cells to carry oxygen around the body, which can cause fatigue (extreme tiredness), shortness of breath, or headache. Anemia can be measured by the level or amount of hemoglobin in the blood. Hemolysis can be measured by the amount of hemoglobin, lactate dehydrogenase (LDH), and reticulocytes in the blood. Hemoglobin and LDH are proteins inside red blood cells. In patients with PNH, hemolysis causes hemoglobin levels to go down and LDH levels go up. Reticulocytes are immature red blood cells; their level goes up during hemolysis to replace destroyed red blood cells. Eculizumab is the current standard of care for patients with PNH. Eculizumab is a medicine that blocks or inhibits the complement component 5 (C5). Pegcetacoplan is a new medicine, the first that inhibits the complement component C3. The PEGASUS study compared the new medicine pegcetacoplan with eculizumab in adults with PNH who remained anemic even after being treated with eculizumab for at least 3 months. In PEGASUS, 41 participants received pegcetacoplan and 39 people received eculizumab for 16 weeks. The trial results showed that pegcetacoplan decreased signs of hemolysis compared to eculizumab. Participants treated with pegcetacoplan for 16 weeks had increased blood levels of hemoglobin, and decreased levels of LDH and reticulocytes; also, 85% of them no longer needed a blood transfusion compared with 15% of those treated with eculizumab. A patient survey showed that 73% of patients who received pegcetacoplan had decreased fatigue. None of the participants treated with eculizumab had decreased fatigue. Most participants in both treatment groups had side effects. However, no serious infections or thrombosis (blood clots) occurred with either treatment group. Episodes of hemolysis during treatment, called breakthrough hemolysis, happened in 10% of pegcetacoplan- and 23% of eculizumab-treated participants. Pegcetacoplan reduced the level of hemolysis in adults with PNH better than eculizumab did. Pegcetacoplan was well tolerated by most patients in this study. Clinical Trial Registration: NCT03500549 (PEGASUS) ( ClinicalTrials.gov )","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"116 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124321165","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":"Characteristics, conditions, and healthcare service utilization patterns of individuals diagnosed with Rett Syndrome: an analysis of administrative claims data","authors":"T. Davis, P. Parab, D. May, C. Ruetsch","doi":"10.2217/frd-2022-0022","DOIUrl":"https://doi.org/10.2217/frd-2022-0022","url":null,"abstract":"Aim: To date, no studies have used a commercially available claims dataset to examine the characteristics, conditions, and healthcare service utilization of individuals with Rett syndrome. Objective: To improve understanding of the Rett population using data available to health insurance plans. Methods: Data were integrated medical and pharmacy claims from the Real-World Evidence data repository licensed from the Decision Resources Group. Individuals had claims for >2 visits which included a diagnosis of Rett and were stratified into three age groups: 1 (<5 years), 2 (>5 and <10 years) and 3 (>10 years). Co-occurring conditions and healthcare service utilization were measured. Diagnoses prior to Rett were evaluated. Results: Most were female. Epilepsy, incontinence, and scoliosis were common co-occurring conditions. Individuals averaged 4.6 office and 2.5 outpatient visits, and 2.1 emergency and 2.9 inpatient admissions. Group 1 used more physical, occupational and speech therapy and averaged more inpatient days compared with others (p < 0.05). Conclusion: This study improves understanding of Rett using data that is typically available to health insurance companies.","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"40 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133638794","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 characteristics, conditions and treatment patterns among males diagnosed with Rett syndrome: an analysis of commercial health insurance claims","authors":"T. Davis, P. Parab, D. May, C. Ruetsch","doi":"10.2217/frd-2022-0023","DOIUrl":"https://doi.org/10.2217/frd-2022-0023","url":null,"abstract":"Background: Though rarely diagnosed with Rett syndrome, males account for 3–5% of all cases in the USA. Nevertheless, few studies have examined characteristics of males with Rett syndrome and their healthcare service utilization using commercially available healthcare claims data. Objective: Improve understanding of healthcare service utilization and cost associated with the population of males with Rett syndrome. Methods: Data were integrated medical and pharmacy claims. Male individuals with more than two claims with a primary diagnosis of Rett syndrome were stratified into age groups (<5 years; ≥5 and <10 years; and ≥10 years). Patient descriptions, comorbidities, service utilization and cost were measured. Results: Mean age was 20.4 years and most patients had Medicaid. Epilepsy, incontinence, dyspnea and dysphagia were common comorbidities during follow-up. Individuals averaged 6.7 office visits, 4.1 outpatient visits, 2.2 emergency admissions and 4.5 inpatient admissions per year. Occupational therapy was used more than physical and speech therapy. Conclusion: The study improves understanding of males with Rett syndrome within a commercially available dataset.","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131373416","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":"Ravulizumab is a suitable long-term treatment option for patients with paroxysmal nocturnal hemoglobinuria","authors":"A. Kulasekararaj, M. Griffin, S. Langemeijer, K. Usuki, A. Kulagin, M. Ogawa, Ji Yu, A. Mujeebuddin, J. Nishimura, J. W. Lee, R. D. de Latour","doi":"10.2217/frd-2022-0024","DOIUrl":"https://doi.org/10.2217/frd-2022-0024","url":null,"abstract":"Eculizumab and ravulizumab are approved treatments for paroxysmal nocturnal hemoglobinuria (PNH), a rare blood disease which can cause potentially fatal complications if left untreated. Long-term ravulizumab treatment in patients with PNH is under investigation in two ongoing studies (‘301’ and ‘302’). This article describes the results at 2 years for both studies. Ravulizumab continued to manage most patients' symptoms and less than 3% of patients experienced serious side effects related to treatment during this time. This article highlights why eculizumab and ravulizumab are the usual treatments for PNH, where available. Long-term, ravulizumab controlled patients' PNH disease activity with few side-effects related to treatment. Clinical Trial Registration: Study 301: NCT02946463 Study 302: NCT03056040","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128144013","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 caregiver and physician perspective on the role of vosoritide in the treatment of achondroplasia: an interview with Mary Andrews and Melita Irving","authors":"M. Irving, Mary Andrews","doi":"10.2217/frd-2023-0002","DOIUrl":"https://doi.org/10.2217/frd-2023-0002","url":null,"abstract":"Mary Andrews is one of the co-founders of The MAGIC Foundation (IL, USA) and Melita Irving is a clinical geneticist from Guy’s and St Thomas’ NHS Foundation Trust (London, UK) and they are speaking with Rachel Jenkins (Publishing Manager) about achondroplasia and approved treatment, vosoritide. They discuss the impact vosoritide will have on unmet needs in the treatment for achondroplasia.","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"34 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122592949","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":"Design of the APPEAR-C3G study: a study to learn how well iptacopan works in people with complement 3 glomerulopathy","authors":"A. Bomback","doi":"10.2217/frd-2022-0020","DOIUrl":"https://doi.org/10.2217/frd-2022-0020","url":null,"abstract":"This is a summary of the article describing the design of the APPEAR-C3G clinical study, which was published in Kidney International Reports in August 2022. The APPEAR-C3G study is an ongoing study that includes participants with complement 3 glomerulopathy, known as C3G. Results of the study will be published in the future. C3G is an extremely rare disease that causes damage to the kidneys, and usually starts in children or young adults. There are currently no medicines approved by the United States Food and Drug Administration (FDA) or European Medicines Agency (EMA) to treat the cause of C3G. APPEAR-C3G is a study to learn more about a new medicine called iptacopan. The main purpose of the study is to help researchers understand if iptacopan can stop or slow down the worsening of kidney function (how well the kidneys work) in participants with C3G who have not had a kidney transplant. The study will also help researchers learn if participants experience any side effects or other health problems during the study, known as adverse events. APPEAR-C3G will enroll around 68 participants who will take part in the study for 12 months. The study will have two parts. In Part 1, half of the participants will take iptacopan and the other half will take a placebo (a pill that looks the same but with no medicine in it) for 6 months. The effects of iptacopan will be compared with the effects of the placebo. In Part 2, all participants will take iptacopan for an additional 6 months. At the end of the study, all participants will have the option to continue taking iptacopan as part of a long-term extension study. The APPEAR-C3G study is registered with the study identifier NCT04817618 The extension study of APPEAR-C3G is registered with the study identifier NCT03955445","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129050127","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":"Patient–dermatologist gap in perception of disease burden and treatment of generalized pustular psoriasis in Japan","authors":"Nobutaka Yagi, T. Sasaki, Y. Tada","doi":"10.2217/frd-2022-0018","DOIUrl":"https://doi.org/10.2217/frd-2022-0018","url":null,"abstract":"Aim: To investigate perceptions of dermatologists and patients with generalized pustular psoriasis (GPP), a severe skin disease involving systemic inflammation. Participants & methods: Selected dermatologists and their patients in Japan completed a web-based survey; topics included symptoms, disease information, treatment goals, and disease burden. Results: In total, 66 dermatologists and 46 patients took part. Nearly all patients (>90%) reported GPP-associated disease burden; the most frequently reported burden was skin symptoms. However, dermatologists prioritized systemic symptoms for treatment. Most patients aimed for completely clear skin, while fewer dermatologists considered it a treatment goal. Conclusion: Patient–dermatologist gaps exist in perceptions of treatment goals and communication, highlighting an important need for effective communication and shared decision-making to improve the disease burden of GPP.","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"25 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124451419","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 palovarotene in patients with fibrodysplasia ossificans progressiva: a plain language summary","authors":"R. Pignolo, E. Hsiao, M. Mukaddam, G. Baujat, S. Berglund, Matthew A Brown, A. Cheung, C. D. Cunto, P. Delai, N. Haga, P. Kannu, R. Keen, Kim-Hanh Le Quan Sang, E. Mancilla, R. Marino, A. Strahs, F. Kaplan","doi":"10.2217/frd-2022-0015","DOIUrl":"https://doi.org/10.2217/frd-2022-0015","url":null,"abstract":"This is a plain language summary of an article originally published in the Journal of Bone and Mineral Research. People with fibrodysplasia ossificans progressiva (FOP) become physically disabled over time as new bone forms in places where it is not usually found, such as in muscles and ligaments. Until recently, there were no treatments for FOP that had been proven through clinical trials; however, a drug called palovarotene has been tested in clinical trials and may be effective. Here, we describe the MOVE trial, which investigated how effectively palovarotene works, as well as its safety in treating patients with FOP. Results from MOVE suggest that palovarotene may reduce extra bone formation outside the normal skeleton. Patients with FOP who took palovarotene formed less new bone than those who did not take palovarotene. The most common side effects involved the skin, and included dryness and irritation. Some children who were still growing when they took palovarotene had a side effect that resulted in the (normal) growth of their skeleton stopping too soon. Palovarotene may be a useful treatment option for FOP. Patients, caregivers, and doctors would need to consider the benefits and risks of treatment with palovarotene, particularly with growing children. Clinical Trial Registration: NCT03312634 ( ClinicalTrials.gov )","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"50 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116006429","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":"GALILEO-1: a Phase I/II safety and efficacy study of FLT201 gene therapy for Gaucher disease type 1","authors":"D. Hughes, F. Ferrante","doi":"10.2217/frd-2022-0019","DOIUrl":"https://doi.org/10.2217/frd-2022-0019","url":null,"abstract":"Gaucher disease type 1 (GD1), caused by mutations in the GBA1 gene, results in β-glucocerebrosidase (GCase) deficiency. Gene therapy is under investigation as a potential treatment option for patients with GD1. The investigational gene therapy FLT201 consists of an adeno-associated virus (AAVS3) encoding a novel GCase variant (GCase-85). Preclinical characterization of FLT201 showed promising results, with GCase-85 being more stable at physiological pH than wild-type GCase and delivered effectively to target tissues. Here, we describe the design of GALILEO-1, a first-in-human Phase I/II safety, tolerability and efficacy study of FLT201 gene therapy in adult patients with GD1. The study results will inform the decision to start a Phase III study of FLT201 in patients with GD1. Clinical Trial Registration: NCT05324943 ( ClinicalTrials.gov )","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"43 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121540469","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":"Payer–patient engagement framework to strengthen ethical formulary decision-making in rare disease arena in the USA","authors":"Siva Narayanan","doi":"10.2217/frd-2022-0016","DOIUrl":"https://doi.org/10.2217/frd-2022-0016","url":null,"abstract":"Aim: Develop a Payer–Patient Engagement Framework (PPEF) in rare disease (RD) to incorporate patient preferences/input into payer formulary decisions in the USA. Materials & methods: Targeted literature reviews related to drug value assessment, ethical decision-making and corporate social performance theories were conducted, and integrated with results from 24 payer and patient stakeholder interviews in the USA to construct PPEF. Results: Published literature revealed scant use of patient preferences/input by payers, and the potential relationship between payer's ethical formulary decisions and payer's moral intent/behavior/actions, and their external credibility and reputation. Payer/patient interviews identified formal and informal ways to solicit patient input and incorporate them in drug formulary review materials. PPEF was formulated to engage patients, assess, and act on evidence and perform transparent external communication. Conclusion: PPEF could enable payers to formally solicit and utilize patient input to strengthen RD formulary decisions and enhance orphan drug access and RD patient outcomes.","PeriodicalId":432772,"journal":{"name":"Future Rare Diseases","volume":"112 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124833186","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}