Therapeutic advances in rare disease最新文献

{"title":"Telehealth for patients with rare epilepsies.","authors":"Zachary J Kramer,&nbsp;Carrin Brandt,&nbsp;Kathryn Havens,&nbsp;Archana Pasupuleti,&nbsp;William D Gaillard,&nbsp;John M Schreiber","doi":"10.1177/26330040221076861","DOIUrl":"10.1177/26330040221076861","url":null,"abstract":"<p><p>Recent developments in technology and exigencies of the COVID-19 pandemic have spurred innovations for telehealth in patients with rare epilepsies. This review details the many ways telehealth may be used in the diagnosis and management of rare, pharmacoresistant epilepsy and documents our experience as measured by surveying caregivers of pediatric patients with epilepsy. Most components of the epilepsy evaluation, including history and examination, neuroimaging, and electroencephalogram (EEG) can be performed or reviewed remotely, assuming similar technique and quality of diagnostic studies. Seizure and epilepsy diagnosis is enhanced through the assistance of caregiver smart phone video recordings and 'ambulatory' EEG. Monitoring patient seizure frequency through paper seizure diaries is now increasingly being replaced by electronic diaries in both clinical and research settings. Electronic seizure diaries have numerous advantages such as data durability, increased accessibility, real-time availability, and easier analysis. Telehealth enhances access to specialized epilepsy care, which has been shown to reduce mortality and improve patient compliance and outcomes. Telehealth can also enable evaluation of patients with rare epilepsy in centers of excellence and enhance enrollment in clinical trials. Reducing mortality risk in patients with epilepsy can be accomplished through remote counseling and addressing psychiatric co-morbidities. Findings from surveying caregivers of children with epilepsy treated at Children's National Hospital showed that 54/56 (96.4%) found that not having to commute to the appointment positively contributed to their telemedicine experience. Overall, most respondents had a positive experience with their telemedicine visit. Almost all respondents (98%) were either 'very happy' or 'happy' with their telemedicine visit and their ability to communicate over telemedicine with the provider and either 'very likely' or 'likely' to want to use telemedicine for some future clinic visits. Telehealth in rare epilepsies is feasible and, in many ways, comparable with traditional evaluation and management.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"3 ","pages":"26330040221076861"},"PeriodicalIF":0.0,"publicationDate":"2022-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0e/60/10.1177_26330040221076861.PMC10032469.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9522686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Systematic Review investigating the Effectiveness of Exercise training in Glycogen Storage Diseases.","authors":"Claire Bordoli,&nbsp;Elaine Murphy,&nbsp;Ian Varley,&nbsp;Graham Sharpe,&nbsp;Philip Hennis","doi":"10.1177/26330040221076497","DOIUrl":"10.1177/26330040221076497","url":null,"abstract":"<p><strong>Introduction: </strong>Glycogen storage diseases (GSDs) are rare inborn errors of carbohydrate metabolism typically with skeletal muscle and liver involvement. In those with skeletal muscle involvement, the majority display symptoms of exercise intolerance which can cause profound exercise limitation and impair everyday living and quality of life (QoL). There are no curative treatments for GSDs, thus therapeutic options, such as exercise training, are aimed at improving QoL by alleviating signs and symptoms. In order to investigate the effectiveness of exercise training in adults with GSDs, we systematically reviewed the literature.</p><p><strong>Methods: </strong>In this review we conducted searches within SCOPUS and MEDLINE to identify potential papers for inclusion. These papers were independently assessed for inclusion and quality by two authors. We identified 23 studies which included aerobic training, strength training or respiratory muscle training in patients with McArdles (<i>n</i> = 41) and Pompe disease (<i>n</i> = 139).</p><p><strong>Results: </strong>In McArdle disease, aerobic exercise training improved aerobic capacity (VO₂ peak) by 14-111% with further benefits to functional capacity and well-being. Meanwhile, strength training increased muscle peak power by 100-151% and reduced disease severity. In Pompe disease, a combination of aerobic and strength training improved VO₂ peak by 9-10%, muscle peak power by 64%, functional capacity and well-being. Furthermore, respiratory muscle training (RMT) improved respiratory muscular strength [maximum inspiratory pressure (MIP) increased by up to 65% and maximum expiratory pressure (MEP) by up to 70%], with additional benefits shown in aerobic capacity, functional capacity and well-being.</p><p><strong>Conclusion: </strong>This adds to the growing body of evidence which suggests that supervised exercise training is safe and effective in improving aerobic capacity and muscle function in adults with McArdle or Pompe disease. However, the literature base is limited in quality and quantity with a dearth of literature regarding exercise training in other GSD subtypes.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"3 ","pages":"26330040221076497"},"PeriodicalIF":0.0,"publicationDate":"2022-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032442/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9469867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"What are the benefits of the anti-FGF23 antibody burosumab on the manifestations of X-linked hypophosphatemia in adults in comparison with conventional therapy? A review.","authors":"Marie-Hélène Lafage-Proust","doi":"10.1177/26330040221074702","DOIUrl":"10.1177/26330040221074702","url":null,"abstract":"<p><p>X-linked hypophosphatemia (XLH) is a genetic disease mostly related to PHEX gene mutations which increases FGF23 serum levels, leading to hypophosphatemia and osteomalacia in adults, while affected children, in addition, develop rickets. Most of adults with XLH suffer from reduced quality of life and physical disability due to chronic bone and joint pain related to limb deformities, early osteoarthritis, delayed-healing of insufficiency fractures, and enthesopathies. Dental infections, muscle dysfunction, and deafness are also frequent. The current treatment consists of 2-5 times daily oral administration of phosphate combined to active vitamin D, often badly tolerated with immediate digestive side effects, responsible for poor compliance. In the long term, it may induce nephrocalcinosis and hyperparathyroidism. Burosumab, an anti-FGF23 blocking antibody, was approved for treating children with XLH in many countries. A randomized 24-week-long placebo-controlled trial, followed by an open-label period of equal duration was conducted in 134 XLH adults treated with 1 mg/kg burosumab/4 weeks. During burosumab treatment, 94% of the patients normalized serum phosphate values <i>versus</i> 7% in the placebo group. Fracture healing was increased 16.7 times compared with placebo-treated patients. All pain and disability tests improved significantly in a time-dependent manner. Burosumab for 48 weeks improved histological lesions of osteomalacia in a single-arm longitudinal study analyzing paired bone biopsies. Another single-arm, open-label study investigated the long-term safety and efficacy of burosumab in 20 adult patients followed for 3.2 years. Burosumab was beneficial on pain and disability scores and on bone remodeling markers. No major side effects especially no hyperphosphatemic episodes were reported. Overall, the benefit/risk ratio of burosumab is positive in adult patients with clinical and/or biological complications of XLH. Burosumab corrects hypophosphatemia, promotes fracture healing, and induces a modest but significant effect on XLH-induced subjective pain and disability symptoms.</p><p><strong>Plain language title and summary: </strong><i>Effects of conventional treatment and burosumab in adults with X-linked hypophosphatemia</i>.X-linked hypophosphatemia (XLH) is a disease of genetic origin that affects mineralized tissues (skeleton and teeth) and impairs muscle function. It induces a decrease in blood phosphate levels. This leads to under mineralization of bones and insufficiency fractures that heal slowly, associated with poor dental health characterized by spontaneous dental abscesses. Adults with XLH suffer from chronic pain and limb deformities that alter their quality of life. They are currently treated with daily administration of vitamin D and several daily doses of phosphate. This treatment may induce parathyroid gland dysfunction and mineral deposits in the kidney. If not tightly monitored, these side effects may lead to","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"3 ","pages":"26330040221074702"},"PeriodicalIF":0.0,"publicationDate":"2022-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/70/70/10.1177_26330040221074702.PMC10032432.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9522681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Therapeutic angiogenesis in Buerger's disease: reviewing the treatment landscape.","authors":"Antoine J Ribieras, Yulexi Y Ortiz, Zhao-Jun Liu, Omaida C Velazquez","doi":"10.1177/26330040211070295","DOIUrl":"10.1177/26330040211070295","url":null,"abstract":"&lt;p&gt;&lt;p&gt;Thromboangiitis obliterans, also known as Buerger's disease, is a rare inflammatory vasculitis that predominantly develops in smokers and characteristically affects the small- and medium-sized peripheral arteries and veins. Patients typically present with extremity claudication, but symptoms may progress to rest pain and tissue loss, especially in those unable to abstain from tobacco use. Unfortunately, traditional medical treatments are largely ineffective and due to the small caliber of affected vessels and lack of suitable distal targets or venous conduits, endovascular and open surgical approaches are often not possible. Eventually, a significant number of patients require major amputation. For these reasons, much research effort has been made in developing techniques of therapeutic angiogenesis to improve limb perfusion, both for atherosclerotic peripheral arterial disease and the smaller subset of patients with critical limb ischemia due to Buerger's disease. Neovascularization in response to ischemia relies on a complex interplay between the local tissue microenvironment and circulating stem and progenitor cells. To date, studies of therapeutic angiogenesis have therefore focused on exploiting known angiogenic factors and stem cells to induce neovascularization in ischemic tissues. This review summarizes the available clinical data regarding the safety and efficacy of various angiogenic therapies, notably injection of naked DNA plasmids, viral gene constructs, and cell-based preparations, and describes techniques for potentiating &lt;i&gt;in vivo&lt;/i&gt; efficacy of gene- and cell-based therapies as well as ongoing developments in exosome-based cell-free approaches for therapeutic angiogenesis.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Plain language title and summary: &lt;/strong&gt;&lt;i&gt;A review of available and emerging treatments for improving blood flow and wound healing in patients with Buerger's disease, a rare disorder of blood vessels&lt;/i&gt; Buerger's disease is a rare disorder of the small- and medium-sized blood vessels in the arms and legs that almost exclusively develops in young smokers. Buerger's disease causes inflammation in arteries and veins, which leads to blockage of these vessels and reduces blood flow to and from the extremities. Decreased blood flow to the arms and legs can lead to development of nonhealing wounds and infection for which some patients may eventually require amputation. Unfortunately, traditional medical and surgical treatments are not effective in Buerger's disease, so other methods for improving blood flow are needed for these patients. There are several different ways to stimulate new blood vessel formation, both in humans and animal models. The most common treatments involve injection of DNA or viruses that express genes related to blood vessel formation or, alternatively, stem cell-based treatments that help regenerate blood vessels and repair wound tissue. This review explores how safe and effective these various treatments are and desc","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"3 ","pages":"26330040211070295"},"PeriodicalIF":0.0,"publicationDate":"2022-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/7a/81/10.1177_26330040211070295.PMC10032470.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9472955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of the Covid-19 epidemic on a US sample of patients with myasthenia gravis.","authors":"Gloria Gutierrez,&nbsp;Helen Girma,&nbsp;Pierce Kuhnell,&nbsp;Maurizio Macaluso,&nbsp;Henry J Kaminski","doi":"10.1177/26330040221082673","DOIUrl":"https://doi.org/10.1177/26330040221082673","url":null,"abstract":"<p><strong>Introduction: </strong>The Covid-19 pandemic has devastated the world and demonstrated the inadequacy of health care in the United States. To assess its impact, the Rare Disease Clinical Research Network conducted a survey to assess the pandemic on the rare disease community of patients, including those with myasthenia gravis (MG).</p><p><strong>Methods: </strong>A cross-sectional survey was designed to target people or their care givers who live in the United States, have a rare disease, and are under 90 years of age. Respondents logged onto a dedicated web page and completed the survey online, which requested demographic, disease-specific, drug treatment, and symptom information as well as assessment of Covid-19 impact on them. The survey was open from May 2020 to December 2020.</p><p><strong>Results: </strong>Five hundred ninety-four with self-reported myasthenia gravis completed the survey, which was the largest number of respondents. Sixty percent of respondents were women with a mean age of 60 years. Eighty-nine percent identified as White. Respondents did not appreciate a worsening of symptoms after the pandemic. Only 7 respondents reported the diagnosis of Covid-19 but 11% indicated they had difficulty accessing care at the time of the survey.</p><p><strong>Discussion and conclusion: </strong>Patients with MG complained of worse access to medical care during the early months of the pandemic, including challenges in diagnosis of suspected Covid-19 infection. A major limitation of the survey is its inability to access minority populations. Nevertheless, the results of the Rare Disease Clinical Research Network (RCDRN) survey of patients with MG provide clear evidence that the pandemic has demonstrated the deficiencies in US healthcare.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"3 ","pages":"26330040221082673"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/3e/79/10.1177_26330040221082673.PMC10032427.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9399548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Beyond pigmentation: signs of liver protection during afamelanotide treatment in Swiss patients with erythropoietic protoporphyria, an observational study.","authors":"Anna-Elisabeth Minder,&nbsp;Jasmin Barman-Aksoezen,&nbsp;Mathias Schmid,&nbsp;Elisabeth I Minder,&nbsp;Henryk Zulewski,&nbsp;Christoph E Minder,&nbsp;Xiaoye Schneider-Yin","doi":"10.1177/26330040211065453","DOIUrl":"10.1177/26330040211065453","url":null,"abstract":"<p><p>Erythropoietic protoporphyria (EPP) is an ultra-rare inherited disorder with overproduction of protoporphyrin in maturating erythroblasts. This excess protoporphyrin leads to incapacitating phototoxic burns in sunlight exposed skin. Its biliary elimination causes cholestatic liver injury in 20% and terminal liver failure in 4% of EPP patients. Thereby, the risk of liver injury increases with increasing erythrocyte protoporphyrin concentrations. Afamelanotide, an α-melanocyte-stimulating hormone (MSH) analog inducing skin pigmentation, was shown to improve sunlight tolerance in EPP. Beyond this well-known effect on pigmentation, the MSHs have liver-protective effects and improve survival of maturating erythroblasts, effects described in animal or <i>in vitro</i> models to date only. We investigated whether afamelanotide treatment in EPP has effects on erythropoiesis, protoporphyrin concentrations, and liver injury by analyzing retrospectively our long-term safety data.</p><p><strong>Methods: </strong>From the 47 Swiss EPP-patients treated at our center since 2006, we included those 38 patients in the current analysis who received at least one afamelanotide dose between 2016 and 2018 and underwent regular laboratory testing before and during the treatment. We compared the means of pretreatment measurements with those during the treatment.</p><p><strong>Results: </strong>Protoporphyrin concentrations dropped from 21.39 ± 11.12 (mean ± SD) before afamelanotide to 16.83 ± 8.24 µmol/L (<i>p</i> < .0001) during treatment. Aspartate aminotransferase decreased from 26.67 ± 13.16 to 22.9 ± 7.76 IU/L (<i>p</i> = .0146). For both entities, patients with higher values showed a more progressive decrease, indicating a risk reduction of EPP-related liver disease. The pre-existing hypochromia and broad mean red-cell distribution width were further augmented under afamelanotide. This was more likely due to an influence of afamelanotide on maturating erythroblasts than due to an exacerbated iron deficiency, as mean zinc-protoporphyrin decreased significantly and ferritin remained unchanged. No serious afamelanotide-related adverse events were observed for a total of 240 treatment years.</p><p><strong>Conclusion: </strong>Our findings point to a protective effect of afamelanotide on erythroblast maturation and protoporphyrin-induced liver injury.</p><p><strong>Plain language summary: </strong><b>Afamelanotide, a skin tanning hormone, may protect patients with erythropoietic protoporphyria not only from skin burns, but also from liver injury associated with the disease.</b> Patients with erythropoietic protoporphyria (EPP), an inherited metabolic disease, suffer from light-induced skin burns and liver injury elicited by the accumulated light sensitizer protoporphyrin. The excess protoporphyrin is produced in red cell precursors in the bone marrow, and it is eliminated from the body <i>via</i> the liver and bile. A high protoporphyrin excretion burden damages th","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"2 ","pages":"26330040211065453"},"PeriodicalIF":0.0,"publicationDate":"2021-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e4/ca/10.1177_26330040211065453.PMC10032460.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10299665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Etranacogene dezaparvovec for hemophilia B gene therapy.","authors":"Courtney D Thornburg","doi":"10.1177/26330040211058896","DOIUrl":"10.1177/26330040211058896","url":null,"abstract":"<p><p>The treatment landscape for hemophilia has been rapidly changing with introduction of novel therapies. Gene therapy for hemophilia is a promising therapeutic option for sustained endogenous factor production to mitigate the need for prophylactic treatment to prevent spontaneous and traumatic bleeding. Etranacogene dezaparvovec is an investigational factor IX (FIX) gene transfer product that utilizes the adeno-associated virus (AAV) 5 vector with a liver-specific promoter and a hyperactive FIX transgene. Here, the development of etranacogene dezaparvovec and available efficacy and safety data from clinical trials are reviewed. Overall, etranacogene dezaparvovec provides sustained FIX expression for more than 2 years and allows for a bleed and infusion-free life in the majority of patients. Safety, efficacy, and quality-of-life data will inform shared decision-making for patients who are considering gene therapy. Long-term follow-up regarding duration of expression and safety are crucial.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"2 ","pages":"26330040211058896"},"PeriodicalIF":0.0,"publicationDate":"2021-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a2/ec/10.1177_26330040211058896.PMC10032433.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9473479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Marfan syndrome and the eye clinic: from diagnosis to management.","authors":"Haseeb Akram,&nbsp;Jose Antonio Aragon-Martin,&nbsp;Aman Chandra","doi":"10.1177/26330040211055738","DOIUrl":"10.1177/26330040211055738","url":null,"abstract":"<p><p>Marfan syndrome (MFS) is an autosomal dominantly inherited disorder affecting the cardiovascular, ocular and musculoskeletal systems. Frequently, clinical suspicion and subsequent diagnosis begins in the ophthalmology clinic. Importantly, the ophthalmologist has a responsibility to cater not only to the eye, but also to be involved in a holistic approach for these patients. In this review, we discuss how MFS may present to an eye clinic, including clinical features, ocular morbidity, genetic diagnosis and management. Although this condition is ideally managed by a multidisciplinary team, our focus will be on MFS and the eye, including other conditions which may present with similar phenotypes. The ophthalmologist's role as the potential first contact for a patient with suspected MFS is crucial in making the proper investigations and referral, with the knowledge that not all ectopia lentis cases are MFS and vice versa. Management of ocular conditions in MFS may range from simple observation to surgical intervention; current options will be discussed.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"2 ","pages":"26330040211055738"},"PeriodicalIF":0.0,"publicationDate":"2021-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/63/d3/10.1177_26330040211055738.PMC10032431.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9473478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Improving patient informed consent for haemophilia gene therapy: the case for change.","authors":"Laurence Woollard,&nbsp;Richard Gorman,&nbsp;Dakota J Rosenfelt","doi":"10.1177/26330040211047244","DOIUrl":"10.1177/26330040211047244","url":null,"abstract":"<p><p>Adeno-associated virus-based gene therapy points to a coming transformation in the treatment of people living with haemophilia, promising sustained bleed control and potential improvement in quality of life. Nevertheless, the consequences of introducing new genetic material are not trivial. The perceived benefits should not minimise the challenges facing patients in understanding the long-term risks and providing a valid and meaningful informed consent, whether in a research or clinical setting. Informed consent is a fundamentally important doctrine in both medical ethics and health law, upholding an individual's right to define their personal goals and make their own autonomous choices. Patients should be enabled to recognise their clinical situation, understand the implications of treatment and integrate every facet of their life into their decision. This review describes informed consent processes for haemophilia gene therapy clinical trials, factors affecting patients' decision making and the availability of patient-centred decision support interventions, to ensure that patients' interests are being protected. Regulatory guidance has been published for physicians and manufacturers in haemophilia on informed consent, including for gene therapy, while best-practice recommendations for patient-physician discussions are available. In all settings, however, communicating and presenting highly technical and complex therapeutic information is challenging, especially where multiple barriers to scientific knowledge and health literacy exist. We propose several evidence-informed strategies to enhance the consent procedure, such as utilising validated literacy and knowledge assessment tools as well as participatory learning environments over an extended period, to ensure that patients are fully cognisant of the consent they give or deny. Further research is needed to define new, creative approaches for patient education and the upholding of ethical values in the informed consent process for gene therapy. The lessons learnt and approaches developed within haemophilia could set the gold standard for good practice in ensuring ethical preparedness amidst advances in genetic therapies.</p><p><strong>Plain language summary: </strong><i>Improving the informed consent process for people living with haemophilia considering gene therapy.</i> Gene therapy is the process of replacing faulty genes with healthy ones. In haemophilia, gene therapy involves introducing a working copy of the gene for the clotting factor that patients are missing. Following treatment, patients should begin producing their own clotting factor normally. However, people living with haemophilia (PwH) need to be fully informed regarding the potential benefits and risks of gene therapy and what this means for them, whether as part of a research study or routine medical care.Patients must be respected and supported to make decisions about their own health and wellbeing, recognising their l","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"2 ","pages":"26330040211047244"},"PeriodicalIF":0.0,"publicationDate":"2021-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/de/62/10.1177_26330040211047244.PMC10032461.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9839547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Utilizing telehealth to create a clinical model of care for patients with Batten disease and other rare diseases.","authors":"Jessica F Scherr,&nbsp;Charles Albright,&nbsp;Emily de Los Reyes","doi":"10.1177/26330040211038564","DOIUrl":"10.1177/26330040211038564","url":null,"abstract":"<p><p>The COVID-19 pandemic transformed the delivery of healthcare across the world. Telehealth has emerged as the primary method for providing healthcare early in the pandemic. Patient and healthcare provider views of the effectiveness of telehealth services are encouraging and support the long-term use of telehealth services in clinical practice. Telehealth may provide a strategy that has far-reaching benefits for diverse patient populations, such as patients with Batten disease and other rare diseases, who face additional barriers to accessing subspecialty healthcare services. The aims of this paper, through the experience of a single Batten Disease Center of Excellence, are to (1) review the benefits and barriers involved in the delivery of telehealth services to patients with rare diseases; (2) discuss components of a model for clinical care that utilizes telehealth services for patients with Batten disease; (3) discuss limitations and future directions of using telehealth in patients with rare diseases. Healthcare systems should consider building clinical models that utilize telehealth services to provide multidisciplinary services to patients with rare diseases. There are numerous benefits in using telehealth that can enhance and expand service delivery between the patient and clinician. Telehealth services can also improve provider-to-provider communication and collaboration when providing clinical care to individuals with rare diseases. Although there are many benefits to utilizing telehealth services in provision of care to patients with rare diseases, it is important to consider factors that may limit or add additional barriers prior to implementing telehealth services. There is a need for future collaborative research to examine and compare the effectiveness and outcomes of telehealth services with standard of care services that are provided in-person. Future research should also examine how to reduce the challenges and barriers associated with the implementation of telehealth services.</p><p><strong>Plain language summary: </strong><b>What is telehealth?</b> Telehealth is defined by the US Department of Health Resources and Services Administrations¹ as the \"use of electronic information and telecommunication technologies to support long-distance clinical healthcare, patient and professional health-related education, public health, and health administration. Technologies include video conference, the internet, store-and-forward imaging, streaming media, and terrestrial and wireless communication.\" <b>What was the aim of this review?</b> This review was conducted to guide a clinical model using telehealth services for patients with Batten disease and other rare diseases based on the experiences of a single Batten Disease Center of Excellence. <b>Why is this important?</b> Individuals with rare diseases may face multiple barriers to accessing clinical services. Local doctors and treatment providers, such as speech therapists,","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"2 ","pages":"26330040211038564"},"PeriodicalIF":0.0,"publicationDate":"2021-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f7/85/10.1177_26330040211038564.PMC10032454.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9468603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}