Patisiran for the treatment of patients with familial amyloid polyneuropathy.

Patisiran for the treatment of patients with familial amyloid polyneuropathy. Drugs Today (Barc). 2019 May;55(5):315-327 Authors: Rizk M, Tüzmen S Abstract Onpattro, also commonly known as patisiran, is a small interfering RNA (siRNA) molecule packaged within a lipid nanoparticle and is transported into the cell to target transthyretin gene (TTR) messenger mRNA (mRNA) by attaching to its complementary sequence. The target mRNA is degraded and both mutant and wild-type amyloid transthyretin (ATTR) protein production becomes suppressed. This drug was developed by Alnylam Pharmaceuticals to treat a rare disease called hereditary ATTR (hATTR) amyloidosis. This disease develops as a result of the deposition of toxic aggregates of misfolded TTR protein, and is progressive causing the affected individual to be bed bound and to eventually die if left untreated. However, variable expressivity and incomplete penetrance cause carriers of TTR gene variants to be asymptomatic for a prolonged time. The heterogeneity of symptoms makes correct diagnosis of the disease difficult, therefore management of symptoms and proper treatment are delayed as a result. However, certain TTR variants are found in endemic or cluster regions, which facilitates their detection. In this review paper, different aspects of the drug are discussed in detail, including its preclinical and clinical studies, as well as its pharmacokinetic properties along with drug interactions leading to it...
Source: Drugs of Today - Category: Drugs & Pharmacology Tags: Drugs Today (Barc) Source Type: research

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Authors: Papachristou SG, Iosifidis E, Sipsas NV, Gamaletsou MN, Walsh TJ, Roilides E Abstract Introduction: Osteoarticular fungal infections (OAFIs) complicate the clinical course of high-risk patients, including immunosuppressed individuals. Their management, however, despite being intricate, is governed by evidence arising from sub-optimal quality research, such as case series. Guidelines are scarce and when present result in recommendations based on low quality evidence. Furthermore, the differences between the management of immunocompromised and immunocompetent patients are not distinct. This is a narrative re...
Source: Expert Review of Anti-Infective Therapy - Category: Infectious Diseases Tags: Expert Rev Anti Infect Ther Source Type: research
Authors: Laforgia M, Calabrò C, Scattone A, Laface C, Porcelli M, Gadaleta CD, Nardulli P, Ranieri G Abstract Introduction: Mast cell leukemia (MCL) is one of the most aggressive forms of Systemic Mastocytosis (SM), a complex family of rare diseases, for which standard therapies are very few. MCL represents only
Source: Expert Opinion on Pharmacotherapy - Category: Drugs & Pharmacology Tags: Expert Opin Pharmacother Source Type: research
Publication date: Available online 27 March 2020Source: Respiratory Medicine Case ReportsAuthor(s): Peter Chung, Sarah Wheeler, Andrew Fong, Hurth Kyle, Bassam Yaghmour
Source: Respiratory Medicine Case Reports - Category: Respiratory Medicine Source Type: research
Authors: Quaglino F, Manfrino L, Cestino L, Giusti M, Mazza E, Piovesan A, Palestini N, Lauro C, Castellano E Abstract Parathyroid carcinoma (PC) is a rare disease responsible for about 1% of primary hyperparathyroidism (PHPT) cases. PC usually has an indolent course, tough to differentiate from the benign causes of PHPT, and the only certain diagnosis is histologic. The gold standard surgical treatment is the en bloc resection associated with the homolateral thyroid loboistmectomy. The aim of this study was to underline the main differences between PC and benign PHPT, along with gathering epidemiological knowledge...
Source: International Journal of Endocrinology - Category: Endocrinology Tags: Int J Endocrinol Source Type: research
European Journal of Heart Failure, EarlyView.
Source: European Journal of Heart Failure - Category: Cardiology Authors: Tags: Editorial Comment Source Type: research
Abstract Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome. Clear cell chondrosarcoma (CCCS) is a rare variant of chondrosarcoma. Here, we report a case of CCCS in the talus occurring in a patient with VHL disease. A 32-year-old man presented with ankle pain for 2 years. MRI revealed a 4.2 cm mass in the talus, and needle biopsy was performed. The patient underwent curettage but the final diagnosis was CCCS. Adjuvant radiation therapy was performed without additional talectomy and the patient was alive without recurrence for a follow-up period of 2 years. To our knowledge, this is t...
Source: International Journal of Clinical and Experimental Pathology - Category: Pathology Authors: Tags: Int J Clin Exp Pathol Source Type: research
This study shows that ED HCV screening is feasible and that a small number of previously undiagnosed patients can be identified and linked to potentially life-changing care. PMID: 32211349 [PubMed - in process]
Source: Canadian Journal of Gastroenterology - Category: Gastroenterology Tags: Can J Gastroenterol Hepatol Source Type: research
Cervical cancer is the leading cause of cancer mortality of women in low-/middle-income countries. Interstitial needles improve outcomes but require resources beyond those available in endemic regions. We conducted a retrospective review of the use of interstitial needles in locally advanced cervical cancer and simulated both 3D planning without needles and 2D planning to explore the benefit of interstitial needles.
Source: Brachytherapy - Category: Cancer & Oncology Authors: Source Type: research
In this free webinar, Medpace partners with Michelle Eagle of ATOM International, a provider of CE training for clinical trials across the world, to discuss approaches and steps that can be taken to...(PRWeb March 27, 2020)Read the full story at https://www.prweb.com/releases/part_3_rare_disease_clinical_development_strategies_for_ensuring_endpoint_integrity_upcoming_webinar_hosted_by_xtalks/prweb17005830.htm
Source: PRWeb: Medical Pharmaceuticals - Category: Pharmaceuticals Source Type: news
To summarize and extend the phenotypic characterization of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, and to discuss genotype-phenotype correlations.
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
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