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Orphan drugs approved in Canada: health technology assessment, price negotiation, and government formulary listing Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2024-02-13 Nigel S B. Rawson, John Adams
The US Food and Drug Administration (FDA) and European Medicines Agency (EMA) have incentives to stimulate the development and marketing of orphan drugs. Health Canada has none.We identified 82 FDA...
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Overview of genetic testing in Prader-Willi syndrome Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2023-09-28 Ying Gao, Mian-Lin Zhong, Yang-Li Dai, Yong-Hui Jiang, Chao-Chun Zou
Prader-Willi syndrome (PWS) is a complicated neurodevelopmental genetic disorder stemming from the loss of expression of imprinted genes within the 15q11-q13 region. It is characterized by impaired...
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Real world data for rare diseases research: The beginner’s guide to registries Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2023-08-01 Federica Pisa, Ariel Arias, Emily Bratton, Maribel Salas, Janet Sultana
ABSTRACT Introduction Rare disease research has specific challenges that can be addressed using registries. Areas covered There are at least three different types of registries: patient registries, disease registries, and product registries. Patient registries recruit rare disease patients, potentially including several rare diseases within a registry, while disease registries can be considered a subset
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Recommendations for the management of diarrhea with trofinetide use in Rett syndrome Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2023-06-13 Eric D. Marsh, Arthur Beisang, Timothy Buie, Timothy A. Benke, Brian Gaucher, Kathleen J. Motil
ABSTRACT Background Trofinetide is a recently approved treatment for Rett syndrome (RTT), a rare neurodevelopmental disorder with no previously approved therapy. The phase 3 LAVENDER trial showed improvements in efficacy measures compared with placebo, but diarrhea rates were high in trofinetide-treated participants. To manage possible diarrhea, recommendations that can be used by health care providers
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Risdiplam as an orphan drug treatment of spinal muscular atrophy in adults and children (2 months or older) Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2022-12-23 N. Deconinck, E. Devos
ABSTRACT Introduction Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 (survival motor neuron1) and results in the loss of motor neurons and progressive muscle weakness. The spectrum of disease severity ranges from early onset with respiratory failure during the first months of life to a milder, slower progressing adult-onset type. The field of SMA treatment has changed
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Quality of life of patients with acromegaly: comparison of different therapeutic modalities Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2022-12-14 Yanitsa Rusenova, Silvia Vandeva, Atanaska Elenkova, Guenka Petrova, Maria Kamusheva
ABSTRACT Background Acromegaly is a rare disease that significantly affects patients’ quality of life (QoL) – especially appearance, pain, depression, energy and vitality. The aim is to assess and compare the acromegaly patients’ QoL related to the type of pharmacotherapy using specific and generic QoL measuring instruments. Research design and methods A cross-sectional questionnaire-based study among
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Making orphan drugs and services available and accessible for people who live with rare diseases: what has been done? a systematic scoping review Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2022-12-14 Hesam Ghiasvand, Maxwell S. Barnish, Tayebeh Moradi, Elham Nikram, Seyran Naghdi
ABSTRACT Objectives Rare diseases are recognized as non-prevalent health disorders. Availability, accessibility, and affordability of Orphan Drugs (ODs), alongside genetic testing, are the major contributors to ensuring no patient is excluded by the health system. Therefore, making ODs available and accessible has been a challenge even for high-income nations. This review aims to summarize the evidence
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Rare diseases: proposition of a list based on the Brazilian Health System Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2022-10-16 Cássia Cunico, Silvana Nair Leite
Published in Expert Opinion on Orphan Drugs (Vol. 10, No. 1, 2022)
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Targeting the IL-2 pathway for the treatment of mucosal melanoma Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2022-10-16 Ann C. Mercurio, Ashray B. Maniar, Alexander Z. Wei, Richard D. Carvajal
ABSTRACT Introduction Mucosal melanomas are rare and aggressive forms of cancer that have consistently eluded meaningful recovery with various anticancer therapies. Patients with unresectable mucosal melanomas have benefited from prolonged survival with the use of systemic drugs, including immune checkpoint inhibitors, but prognosis for mucosal malignancies remains inferior compared to cutaneous melanomas
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Pricing and reimbursement policy for new orphan drugs in South Korea: focused on patient accessibility and budget impact Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2022-10-14 Jong Hyuk Lee, Seung-Lai Yoo
ABSTRACT Background This study aims to analyze the policy and its effects as they apply to new orphan drug (OD) and the budget impact after reimbursement listing in South Korean National Health Insurance (NHI). Methods We analyzed 198 new drugs listed by South Korea’s NHI from July 2007 to March 2017. A comparison of the time to listing for ODs and non-orphan drugs (NODs) was conducted via the Mann–Whitney
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Recommendations for overcoming challenges in the diagnosis of lysosomal acid lipase deficiency Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2022-10-12 Pilar Giraldo, Laura López de Frutos, Jorge J Cebolla
ABSTRACT Introduction Lysosomal acid lipase deficiency disease (LALD; MIM#278000) is an ultrarare lysosomal storage disease with a wide range of phenotypic variability. It is caused by the deficient activity of lysosomal acid lipase (LAL) enzyme, encoded by LIPA. Consequently, it leads to the buildup of cholesterol esters and triglycerides within the lysosomes, in the liver, spleen, adrenal glands
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Molecular aspects of the altered Angiotensin II signaling in Gitelman’s syndrome Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2022-05-03 Verdiana Ravarotto, Giovanni Bertoldi, Lucia Federica Stefanelli, Laura Gobbi, Lorenzo A. Calò
ABSTRACT Introduction Gitelman’s syndrome (GS) is a rare inherited tubulopathy characterized by hypokalemia, hypomagnesemia, and metabolic alkalosis due to inactivating mutations of the distal convoluted tubule sodium chloride cotransporter. This entails reduced extracellular volume and consequent activation of counterbalancing systems such as the renin–angiotensin–aldosterone system. Although with
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Elucidating the pathogenesis of adenosine deaminase 2 deficiency: current status and unmet needs Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2022-03-28 Teresa K Tarrant, Susan J. Kelly, Michael S Hershfield
ABSTRACT Introduction Humans have two adenosine deaminase isozymes, ADA1 and ADA2, which differ in affinity for their substrates, adenosine (Ado) and 2ʹdeoxyadenosine (dAdo), and their localization. Inherited deficiencies of ADA1 and ADA2 compromise different aspects of immune and hematological function. The metabolic consequences of ADA1 deficiency show that its enzymatic (ADA) activity is central
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Adjuvant chemotherapy in patients with uterine carcinosarcoma: a review of clinical outcomes and considerations Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2022-03-17 Aiko Ogasawara, Daisuke Shintatni, Sho Sato, Kosei Hasegawa
ABSTRACT Introduction Uterine carcinosarcoma (UCS) is a highly aggressive disease, and had been traditionally recognized as a uterine sarcoma. In recent years, it has been categorized as a subtype of high-grade endometrial cancer. Its prognosis is extremely poor, and approximately half of the patients with early-stage disease will recure and eventually die. Due to its high relapse rate, an effective
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Current medicines hold promise in the treatment of orphan infections due to brain-eating amoebae Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2022-03-14 Ruqaiyyah Siddiqui, Mohamed Yehia Abouleish, Mustafa Khamis, Taleb Ibrahim, Naveed Ahmed Khan
(2021). Current medicines hold promise in the treatment of orphan infections due to brain-eating amoebae. Expert Opinion on Orphan Drugs: Vol. 9, No. 11-12, pp. 227-235.
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Drugs and biologics receiving FDA orphan drug designation: an analysis of the most frequently designated products and their repositioning strategies Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2022-03-01 Kathleen L. Miller, Selma Kraft, Abraham Ipe, Lewis Fermaglich
ABSTRACT Background The Orphan Drug Act was created to stimulate the development of drugs and biologics for rare diseases. Investigating products that have received orphan drug designation provide a greater understanding of rare disease drug development, as well as the repositioning business models of developers. Research design and methods We used a dataset containing all orphan drug designations
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Pitolisant for the treatment of cataplexy in adults with narcolepsy Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2022-01-25 Gerard J. Meskill, Ulf Kallweit, Donna Zarycranski, Christian Caussé, Olivier Finance, Xavier Ligneau, Craig W. Davis
ABSTRACT Introduction Narcolepsy is a chronic neurological disorder of sleep-wake instability that typically requires lifelong pharmacotherapy. Narcolepsy medications target the cardinal symptoms of excessive daytime sleepiness (EDS), cataplexy (the sudden loss of muscle tone often triggered by strong emotion), or both. Areas covered A comprehensive review of the clinical trial data evaluating the
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Lumasiran: expanding the treatment options for patients with primary hyperoxaluria type 1 Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-11-25 Sally-Anne Hulton
ABSTRACT Introduction Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism whereby excessive endogenous oxalate production can result in kidney failure, systemic oxalosis and early death. The approval of the first therapeutic agent to alter the treatment pathway for PH1 – lumasiran, a novel RNA interference-based drug – represents a new era in the management of patients with
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An evaluation of onasemnogene abeparvovec for spinal muscular atrophy (SMN1) Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-11-25 Megan A. Waldrop, Anne M. Connolly, Jerry R. Mendell
ABSTRACT Introduction Onasemnogene abeparvovec is the first systemic gene replacement therapy approved by the FDA for any inherited condition and is the second FDA-approved genetic therapy for 5q spinal muscular atrophy. Areas covered We discuss the design and preclinical development of onasemnogene abeparvovec, along with clinical trial and real-world data focusing on efficacy and safety. Expert Opinion
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Steroid alternatives for managing eosinophilic lung diseases Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-12-03 Quentin Delcros, Matthieu Groh, Mouhamad Nasser, Jean-Emmanuel Kahn, Vincent Cottin
ABSTRACT Introduction Chronic pulmonary eosinophilia is a rare condition, usually highly responsive to systemic glucocorticoids, yet relapses are frequent and require long-term treatment associated with significant morbidity. Areas covered We review the main conditions causing chronic pulmonary eosinophilia and glucocorticoid-sparing agents in this setting. Expert opinion An individually tailored etiologic
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Efficacy of sirolimus for treatment of autoimmune lymphoproliferative syndrome: a systematic review of open label clinical studies Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-08-27 Shweta Sharma, Md Sarfaraj Hussain, Nidhi.B. Agarwal, Dinesh Bhurani, Mohd Ashif Khan, Md Aejaz Ahmad Ansari
ABSTRACT Background Although autoimmune lymphoproliferative syndrome (ALPS) is an unusual and fatal disorder to which no absolute cure stands, there also remains substantial diversity with majority of subjects exhibiting only slight associated morbidities. Several pre-clinical and clinical evidence in the past have reported sirolimus to be an effective therapeutic option for patients with autoimmune
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Patient experience in a rare disease: application of the IEXPAC questionnaire in hereditary transthyretin-mediated amyloidosis Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-07-21
ABSTRACT Background: Hereditary transthyretin amyloidosis (hATTR amyloidosis) is a rare, disabling and potentially fatal disease. The purpose of this investigation was to analyze the experience reported by hATTR amyloidosis population and develop a strategy to improve results for patients searching Internet for knowledge about their disease. Methods: A cross-sectional study, including adult hATTR amyloidosis
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European stakeholder perspectives on challenges to rare disease drug development – a qualitative study Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-07-21
ABSTRACT Background The multifaceted challenges of rare disease research remain, leaving a large proportion of rare disease patients without treatment options. This study aims to identify the challenges of rare disease drug development. Research design & methods Ten semi-structured interviews were carried out with a range of stakeholders. Thematic analysis was conducted to identify common and important
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An evaluation of nifurtimox for Chagas disease in children Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-06-17 Fernanda Lascano, Jaime Altcheh
ABSTRACT Introduction: Chagas disease (CD) is a zoonosis disease caused by Trypanosoma cruzi (T. cruzi) and currently affects 6 million people worldwide. Described 100 years ago, two drugs are available for treatment, nifurtimox (NFX) and benznidazole (BZN), developed over 50 years ago. Though BZN has been more commonly used for CD, new development efforts on NFX has been undertaken with its recently
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Coenzyme Q10 and the exclusive club of diseases that show a limited response to treatment Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-06-03 Nadia Turton, Nathan Bowers, Sam Khajeh, Iain P Hargreaves, Robert A Heaton
ABSTRACT Introduction: Coenzyme Q10 (CoQ10) is a ubiquitous organic molecule with a significant role in the mitochondrial electron transport chain (ETC). As a result of its role in such an important biological process, CoQ10 deficiency has been implicated in the pathogenesis of numerous diseases such as Parkinson’s disease (PD) and multiple sclerosis (MS). This has led to multiple attempts to use CoQ10
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Current and innovative therapeutic strategies for the treatment of giant cell arteritis Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-05-30 Alwin Sebastian, Alessandro Tomelleri, Bhaskar Dasgupta
ABSTRACT Introduction: Glucocorticoids represent a highly effective treatment for giant cell arteritis (GCA); however, steroid-dependency frequently hinders an adequate dose reduction. This has led to a flourishing interest in new therapeutic strategies. Areas covered: An analysis of the treatments for GCA was conducted and structured in four sections: summary data supporting the use of glucocorticoids;
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The national drug formulary listing process for orphan drugs in South Korea: narrative review focused on pricing and reimbursement pathways Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-04-12 Joon Seok Bang, Jong Hyuk Lee
ABSTRACT Introduction: In addition to some countries facing challenges regarding patients with rare diseases, it has also become an important international topic. Through the efforts of many nations around the world toward providing benefits for the development of orphan drugs to improve the right to treatment of patients with rare diseases, various orphan drugs have been launched in the market. However
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Advances in predicting patient survival in pulmonary sarcoidosis Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-05-15 Gamze Kirkil, Elyse Lower, Robert Baughman
ABSTRACT Introduction: Pulmonary disease remains the most common reason for death in sarcoidosis with pulmonary fibrosis and pulmonary hypertension the two most common causes of mortality. Although most sarcoidosis patients with pulmonary fibrosis have a benign outcome, up to 25% of these patients will die from respiratory failure. Unfortunately, over a third of sarcoidosis patients with pre-capillary
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Old and novel prognostic biomarkers in primary biliary cholangitis Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-05-16 G Mulinacci, A Palermo, Pietro Invernizzi, Marco Carbone
ABSTRACT Introduction: Primary Biliary Cholangitis (PBC) is a chronic liver disease characterized by intrahepatic biliary destruction and progressive cholestasis potentially leading to end-stage liver disease and its associated complications. As for many chronic disorders, the risk of disease progression in PBC varies between patients. This has fostered the identification of disease tags defining the
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Correlation between neurological features, nutritional status, and metabolic changes in patients with Ataxia-telangiectasia Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-05-18 Talita Lemos Neves Barreto, Ivana Rocha Raslan, Karina Kakiuchi Trajano, Fernanda Aparecida Maggi, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Fernando Luiz Affonso Fonseca, Ariel Cordeiro Ferreira, Carolina Sanchez Aranda, Roseli Oselka Saccardo Sarni
ABSTRACT Background: Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disorder caused by variants of ATM (ataxia telangiectasia mutated) gene. These patients develop metabolic changes over time. We aimed to assess the correlation between neurological features, nutritional status, and metabolic changes in AT patients. Methods: Cross-sectional study with prospective data from 25
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Hydrocortisone granules in capsules for opening (Alkindi) as replacement therapy in pediatric patients with adrenal insufficiency Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-04-01 Helen Coope, Lotta Parviainen, Mike Withe, John Porter, Richard J Ross
ABSTRACT Introduction Treatment of pediatric adrenal insufficiency (AI) has been challenging due to a lack of dose and age appropriate hydrocortisone preparations for children. Hydrocortisone granules in capsules for opening (Alkindi) is the only licensed replacement therapy specifically designed for use in pediatric adrenal insufficiency. Areas Covered The high unmet need of the pediatric AI patient
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Canakinumab injection for the treatment of active Still’s disease, including adult-onset Still’s disease Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-03-29 Alessandro Tomelleri, Corrado Campochiaro, Giacomo De Luca, Nicola Farina, Giulio Cavalli, Lorenzo Dagna
ABSTRACT Introduction Still’s disease is a systemic, non-monogenic autoinflammatory condition affecting both children and adolescents (systemic juvenile idiopathic arthritis, sJIA) and adults (adult-onset Still’s disease, AOSD). Its clinical spectrum ranges from mild forms to life-threatening cases. Glucocorticoids represent the first-line therapy, but their chronic use is burdened with significant
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A review of the criteria for non-invasive diagnosis of cardiac transthyretin amyloidosis Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-04-12 Tamer Rezk, Marianna Fontana, Julian D. Gillmore
ABSTRACT Introduction: Cardiac transthyretin (ATTR) amyloidosis is a progressive and fatal infiltrative cardiomyopathy (ATTR-CM) characterized by congestive cardiac failure, often with preserved left ventricular ejection fraction, and significant risk of conduction disease. Diagnosis is often delayed or missed due to poor specificity of echocardiography and the historical requirement for a histological
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Fusariosis: an update on therapeutic options for management Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-03-29 Laila S Al Yazidi, Abdullah M. S. Al-Hatmi
ABSTRACT Introduction Disseminated fusariosis is a serious fungal infection with a high mortality rate among immunocompromised hosts. Management of fusariosis is challenging due to intrinsic resistance to most available antifungal agents. The novel antifungals that are in the pipeline may help to enhance favorable outcome of fusariosis. Clinical trials and animal model studies are required to achieve
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Understanding the genetic pathology of Stargardt disease: a review of current findings and challenges Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-03-29 David A. Camp, Michael C. Gemayel, Thomas A. Ciulla
ABSTRACT Introduction: Stargardt macular dystrophy (STGD1), an autosomal recessive disorder, is caused by genetic mutations affecting ATP-Binding Cassette, subfamily A, member 4 (ABCA4). The genetic pathology of STGD1 is complex. Over 1200 disease-causing ABCA4 mutations have been identified which vary in disease severity and geographic/ethnic frequency. Areas Covered: This article provides an introduction
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Clinical application of molecular biomarkers in Duchenne muscular dystrophy: challenges and perspectives Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-03-28 Fernanda Fortunato, Alessandra Ferlini
ABSTRACT Introduction: Duchenne muscular dystrophy is a severe, X-linked disease characterized by decreased muscle mass and function in children. Genetic and biochemical research over the years has led to the characterization of the cause and the pathophysiology of the disease. Moreover, the elucidation of genetic mechanisms underlining Duchenne muscular dystrophy has allowed for the design of innovative
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Assessing and managing symptom burden and quality of life in primary sclerosing cholangitis patients Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-03-19 Josiah D. McCain, David M. Chascsa, Keith D. Lindor
ABSTRACT Introduction: Primary sclerosing cholangitis (PSC) is a progressive disease of the bile ducts for which there is no cure. As no therapy has proven to delay this progression, the current focus for these patients is symptom management. In the same vein, the screening for and prevention of diseases for which these patients carry increased risk is an effective part of high-yield care. Areas Covered:
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Phase three clinical trials in idiopathic pulmonary fibrosis Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-02-04 Giacomo Sgalla, Marialessia Lerede, Luca Richeldi
ABSTRACT Introduction The last two decades witnessed an increasing number of well-designed late phase trials in patients with Idiopathic Pulmonary Fibrosis (IPF), leading to the approval of the first effective therapies for these patients, pirfenidone and nintedanib. Currently, novel putative agents for the treatment of IPF are being tested in phase III trials, possibly marking a new breakthrough in
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Is subretinal AAV gene replacement still the only viable treatment option for choroideremia? Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-03-24 Ruofan Connie Han, Lewis E. Fry, Ariel Kantor, Michelle E. McClements, Kanmin Xue, Robert E. MacLaren
ABSTRACT Introduction: Choroideremia is an X-linked inherited retinal degeneration resulting from mutations in the CHM gene, encoding Rab escort protein-1 (REP1), a protein regulating intracellular vesicular transport. Loss-of-function mutations in CHM lead to progressive loss of retinal pigment epithelium (RPE) with photoreceptor and choriocapillaris degeneration, leading to progressive visual field
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Recommendations and guidance on the diagnosis and management of Danon disease Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-02-17 Kimberly N. Hong, Michela Brambatti, Sonya John, Quan M. Bui, Marzia Rigolli, Matthew Taylor, Eric D. Adler
ABSTRACT Introduction: Danon disease (DD) is a rare X-linked dominant cardioskeletal myopathy where phenotypic expression varies by sex. It is characterized by severe cardiomyopathy, skeletal myopathy, and cognitive impairment, but can include retinopathy, gastrointestinal, hepatic and pulmonary manifestations. Areas covered: This review of DD will cover genetics, pathophysiologic mechanisms, clinical
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Evolving treatments in high-risk neuroblastoma Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-12-24 Abhinav Kumar, John P J Rocke, B Nirmal Kumar
ABSTRACT Introduction: Neuroblastoma is a tumor of the developing sympathetic nervous system. Low and intermediate-risk patients usually have good treatment outcomes, whereas high-risk cases have poorer survival and recurrence rates. This review highlights limitations in the treatment procedure and future therapies in development that may be adopted into clinical practice, compiled from a literature
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Gut microbial profiling as a therapeutic and diagnostic target for managing primary biliary cholangitis. Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-12-29 Annarosa Floreani, Sara De Martin, Tsukasa Ikeura, Kazuichi Okazaki, Merrill Eric Gershwin
ABSTRACT Introduction: Microbial antigens present in the intestine has been suggested as possible triggers of primary biliary cholangitis (PBC) and it has been demonstrated that the gut microbiome is modified in PBC patients. On this basis, the modulation of the gut microbiome has been proposed as a pharmacological target for PBC management. To provide a state-of-the-art analysis of the preclinical
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Assessing diagnosis and managing respiratory and cardiac complications of sarcoglycanopathy Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2021-01-03 Corrado Angelini, Valentina Pegoraro
ABSTRACT Introduction: Sarcoglycanopathies (SG) are caused by a mutation in SGCA, SGCB, SGCG, or SGCD genes and present a wide spectrum of muscle involvement and wasting. The clinical phenotypes due to a mutation in the sarcoglycan genes include severe childhood-onset forms, proximal myopathies, pseudometabolic myopathies, myopathies with respiratory complication, and hyperCKemia syndromes. Dilated
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Managing respiratory complications in infants and newborns with congenital diaphragmatic hernia Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-12-30 Sandeep Shetty, Fahad M. S. Arattu Thodika, Anne Greenough
ABSTRACT Introduction: Congenital diaphragmatic hernia (CDH) is one of the most challenging neonatal surgical conditions due to its high mortality and morbidity. A multidisciplinary approach is required regarding the management of affected infants, before birth, during their initial hospitalization and in their long-term follow-up. Areas covered: This review discusses the monitoring and management
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Putative adjunct therapies to target mitochondrial dysfunction and oxidative stress in phenylketonuria, lysosomal storage disorders and peroxisomal disorders Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-11-26 Nadia Turton, Tricia Rutherford, Dick Thijssen, Iain P Hargreaves
ABSTRACT Introduction: Oxidative stress (OS) and mitochondrial dysfunction are implicated in the pathogenesis of a number of metabolic diseases. OS occurs when there is an imbalance between the pro-oxidant/antioxidant homeostasis, leading to an increased generation of reactive oxidant species (ROS) with resultant cellular dysfunction. It is becoming apparent that increased ROS generation may be attributable
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Advances in understanding of Netherton syndrome and therapeutic implications Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-12-29 Evgeniya Petrova, Alain Hovnanian
ABSTRACT Introduction: Netherton syndrome (NS) is a rare and severe ichthyosis characterized by superficial scaling, skin inflammation, a specific hair shaft defect, severe atopic manifestations and multisystemic complications. It is an orphan disease with currently no satisfactory treatment. NS is caused by loss-of-function mutations in SPINK5 encoding the serine protease inhibitor LEKTI. NS patients
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Cerliponase alfa for CLN2 disease, a promising therapy Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-12-21 Shawn C. Aylward, Jonathan Pindrik, Nicolas J. Abreu, W. Bruce Cherny, Matthew O’Neal, Emily de Los Reyes
ABSTRACT Introduction: Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare, lysosomal storage disease that causes progressive neurodegeneration in children. Cerliponase alfa enzyme replacement therapy is the first approved treatment for CLN2. Areas covered: This article reviews the clinical presentation of CLN2, significant preclinical and clinical studies related to the approvals of cerliponase
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Inhibitory effect of Tunceli garlic (Allium tuncelianum) on blastocystis subtype 3 grown in vitro Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-12-14 Mehmet Aykur, Emrah Karakavuk, Muhammet Karakavuk, Mesut Akıl, Hüseyin Can, Mert Döşkaya, Yüksel Gürüz, Hande Dağcı
ABSTRACT Objective: Blastocystis is a common protozoan parasite detected worldwide. This study aims to investigate the in vitro inhibitory effect of ethyl alcohol extracts of Tunceli garlic (Allium tuncelianum) on growth of Blastocystis ST3 subtype. Methods: Blastocystis ST3 were grown in 3 ml Jones’s medium containing A. tuncelianum prepared at five different concentrations for 72 hours at 37°C. Distilled
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Evolving treatments in high-risk neuroblastoma Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-12-17 Abhinav Kumar, J P J Rocke, B Nirmal Kumar
Abstract Introduction: Neuroblastoma is a tumour of the developing sympathetic nervous system. Low and intermediate-risk patients usually have good treatment outcomes, whereas high-risk cases have poorer survival and recurrence rates. This review highlights limitations in the treatment procedure and future therapies in development that may be adopted into clinical practice, compiled from a literature
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Gut microbial profiling as a therapeutic and diagnostic target for managing primary biliary cholangitis Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-12-16 Annarosa Floreani, Sara De Martin, Tsukasa Ikeura, Kazuichi Okazaki, Merrill Eric Gershwin
Abstract Introduction Microbial antigens present in the intestine have been suggested as possible triggers of primary biliary cholangitis (PBC) and it has been demonstrated that gut microbiome is modified in PBC patients. On this basis, the modulation of gut microbiome has been proposed as a pharmacological target for PBC management. To provide a state-of-the-art analysis of the preclinical and clinical
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SOD1-targeting therapies for neurodegenerative diseases: a review of current findings and future potential Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-11-02 John P. Franklin, Mimoun Azzouz, Pamela J. Shaw
ABSTRACT Introduction: amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with limited effective treatments. Mutations in the SOD1 gene are causative in approximately 2% of ALS cases. As the first ALS-associated gene to be discovered, efforts in the development of therapies targeting SOD1 are advanced relative to other genetic causes of ALS. Silencing of the SOD1 gene, has recently
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Advances in drug therapies for cytomegalovirus in transplantation: a focus on maribavir and letermovir Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-10-21 Jackrapong Bruminhent, R.R. Razonable
ABSTRACT Introduction Cytomegalovirus (CMV) challenges physicians who care for immunocompromised transplant recipients. Antiviral drugs are the cornerstone in the prevention and treatment of CMV disease, but they have toxicities that limit their effective clinical uses. Advances in antiviral therapeutics against CMV are needed. High antiviral efficacy, especially against drug-resistant CMV, and low
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Clinical and economic assessment of nusinersen: the Bulgarian perspective Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-10-25 Maria Stefanova Kamusheva, Maria Jordanova Dimitrova
ABSTRACT Introduction Spinal muscular atrophy (SMA) is a very serious debilitating rare condition mainly affecting newborns and infants. Areas covered The aim of current chapter is to present the standard of care and treatment available in Bulgaria from both clinical and economic point of view. The authors are presenting the latest clinical studies in the area of this rare neuromuscular disorder as
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Current state of developing advanced therapies for rare diseases in the European Union Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-10-21 Tingting Qiu, Yitong Wang, Monique Dabbous, Eve Hanna, Ru Han, Shuyao Liang, Mondher Toumi
ABSTRACT Objective Advanced Therapy Medicinal Products (ATMPs) present significant therapeutic advantages for inherited rare diseases. However, the development of orphan ATMPs is challenging due to their complexity and unpredictable biological activity. This study aims to comprehensively describe the current state of orphan ATMPs in Europe. Methods Orphan drugs (ODs) granted by European Commission
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Rare cancers, the continued agenda for progress – editor’s special foreword Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-09-22 Daniel J O’Connor
(2020). Rare cancers, the continued agenda for progress – editor’s special foreword. Expert Opinion on Orphan Drugs: Vol. 8, Special issue on Rare Cancers, pp. 309-310.
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Tazemetostat as a treatment for epithelioid sarcoma Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-08-24 Mia C. Weiss, Mark Agulnik
Introduction Epithelioid Sarcomas is a rare aggressive subtype of soft tissue sarcomas that is most prevalent in young adult males. It is locally invasive and frequently metastasizes to regional lymph nodes and distant organ sites. Complete surgical resection is curative in early-stage disease; however, there remains a high recurrence rate and distant metastatic risk. Outcomes remain poor in patients
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Assessing prognosis of chronic lymphocytic leukemia using biomarkers and genetics Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-08-16 Riccardo Moia, Andrea Patriarca, Abdurraouf Mokhtar Mahmoud, Valentina Ferri, Chiara Favini, Silvia Rasi, Clara Deambrogi, Gianluca Gaidano
Introduction Chronic lymphocytic leukemia (CLL) is a clinically and genetically heterogenous disease. Genomic studies have deciphered the pathogenesis of CLL and has allowed the identification of prognostic and predictive biomarkers. During the last decade, the treatment options for CLL have expanded significantly, posing the need for the identification of molecular predictors for treatment tailoring
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Assessing prognosis in cholangiocarcinoma: a review of promising genetic markers and imaging approaches Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-08-05 Fabio Bagante, Marzia Tripepi, Gaya Spolverato, Diamantis I. Tsilimigras, Timothy M. Pawlik
Introduction Despite the progress in the treatment of liver cancer, the prognosis of CCA remains poor and the surgical resection remains the only treatment with a potentially curative intent to date. Areas covered Advances in the knowledge of cholangiocarcinoma regarding the mutational status and radiological of the tumor have been reviewed searching the most updated papers using MEDLINE and EMBASE
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Multiple endocrine neoplasia type 1: a review of current diagnostic and treatment approaches Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-09-02 Francesca Marini, Francesca Giusti, Francesco Tonelli, Maria Luisa Brandi
Introduction Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited syndrome, caused by heterozygote inactivating mutation of the MEN1 tumor suppressor gene, and characterized by the development of multiple tumors in target neuroendocrine tissues. Areas covered Authors reviewed, after targeted literature research, the main techniques and general protocols employed for tumor diagnosis in MEN1
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Ravulizumab in the treatment of paroxysmal nocturnal hemoglobinuria Expert Opin. Orphan Drugs (IF 0.8) Pub Date : 2020-09-17 Hayeong Rho, Richard A Wells
Introduction Eculizumab, the anti-C5 monoclonal antibody therapeutic, has revolutionized the treatment of Paroxysmal Nocturnal Hemoglobinuria (PNH) and has shown efficacy in other complement-mediated disorders including atypical Hemolytic Uremic Syndrome (aHUS) and Myasthenia Gravis (MG). Despite the effectiveness of eculizumab, challenges remain in the treatment of these diseases, including breakthrough