Treatment options for lysosomal storage disorders: developing insights.

Abstract:

INTRODUCTION:Lysosomal storage disorders (LSDs) are clinically heterogeneous disorders that result primarily from lysosomal accumulation of macromolecules in various tissues. LSDs are always progressive, and often lead to severe symptoms and premature death. The identification of the underlying genetic and enzymatic defects has prompted the development of various treatment options. AREAS COVERED:To describe the current treatment options for LSDs, the authors provide a focused overview of their pathophysiology. They discuss the current applications and challenges of enzyme-replacement therapy, stem-cell therapy, gene therapy, chaperone therapy and substrate-reduction therapy, as well as future therapeutic prospects. EXPERT OPINION:Over recent decades, considerable progress has been made in the treatment of LSDs and in the outcome of patients. None of the current options are completely curative yet. They are complicated by the difficulty in efficiently targeting all affected tissues (particularly the central nervous system), in reaching sufficiently high enzyme levels in the target tissues, and by their high costs. The pathways leading from the genetic mutation to the clinical symptoms should be further elucidated, as they might prompt the development of new and ultimately curative therapies.

authors

van Gelder CM,Vollebregt AA,Plug I,van der Ploeg AT,Reuser AJ

doi

10.1517/14656566.2012.729039

subject

Has Abstract

pub_date

2012-11-01 00:00:00

pages

2281-99

issue

16

eissn

1465-6566

issn

1744-7666

journal_volume

13

pub_type

杂志文章,评审
  • Pharmacokinetic profile of a new formulation of injection diclofenac designed for intradeltoid use.

    abstract:OBJECTIVE:Injection diclofenac sodium available at present as a 3-ml formulation is administered intragluteally. Standard needles may not reach the gluteus maximus muscle in many cases, especially in obese patients. Alternative sites like the deltoid have been suggested to be more suitable for these patients. Diclofena...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章

    doi:10.1517/14656560902732066

    authors: Ojha A,Shep D,Nivsarkar M,Patel S,Jaiswal V,Padh H

    更新日期:2009-03-01 00:00:00

  • Neoadjuvant or adjuvant chemotherapy in early breast cancer?

    abstract:INTRODUCTION:The administration of chemotherapy before (neoadjuvant), rather than after surgery (adjuvant) in early breast cancer has been considered an optional strategy for patients with operable breast cancer. We reviewed this concept considering recent results in the field. AREAS COVERED:Herein, the authors cover ...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1080/14656566.2020.1746273

    authors: Montemurro F,Nuzzolese I,Ponzone R

    更新日期:2020-06-01 00:00:00

  • Cost-effectiveness of pharmacotherapy for autoimmune hepatitis.

    abstract::In > 80% of patients with autoimmune hepatitis, steroid therapy alone or in combination with azathioprine results in disease remission. Treatment response results in reversal of fibrosis and excellent long-term survival in many patients, whereas untreated patients may expect a 10-year survival of < 30%. The use of aza...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.7.2.145

    authors: Heneghan MA,Al-Chalabi T,McFarlane IG

    更新日期:2006-02-01 00:00:00

  • Everolimus: preventing organ rejection in adult kidney transplant recipients.

    abstract:INTRODUCTION:Kidney transplantation is the treatment of choice for patients with end-stage renal failure, and their survival after transplantation is gradually improving. Everolimus (EVL) is a mammalian target of rapamycin inhibitor, providing a safe and effective immunosuppressive regime after kidney transplantation. ...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.2012.662955

    authors: Dantal J

    更新日期:2012-04-01 00:00:00

  • A new ketoconazole topical gel formulation in seborrhoeic dermatitis: an updated review of the mechanism.

    abstract::Seborrhoeic dermatitis (SD) is a chronic, inflammatory skin disorder, affecting areas of the head and body where sebaceous glands are most prominent and active. The disorder commonly affects hair-bearing areas of the head, including the scalp. Involvement on the face is usually limited to the hairline, eyebrows, nasol...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.8.9.1365

    authors: Faergemann J,Borgers M,Degreef H

    更新日期:2007-06-01 00:00:00

  • Current options for the management of postmenopausal osteoporosis.

    abstract:INTRODUCTION:Osteoporosis is a well-recognized disease with severe consequences if left untreated. The prevention of osteoporosis-associated fractures should include fall prevention, calcium supplementation and life-style advice, as well as pharmacological therapy using agents with proven antifracture efficacy. AREAS ...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.2011.618123

    authors: Lecart MP,Reginster JY

    更新日期:2011-11-01 00:00:00

  • Sorafenib: activity and clinical application in patients with hepatocellular carcinoma.

    abstract:INTRODUCTION:Sorafenib is a novel oral bis-aryl urea compound that has proven survival benefit in patients with advanced hepatocellular carcinoma (HCC), for which several therapies are currently available with unsatisfactory results. Sorafenib is the first compound to demonstrate a significant effect on survival in HCC...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.2011.546346

    authors: Guan YS,He Q

    更新日期:2011-02-01 00:00:00

  • Oseltamivir in the management of influenza.

    abstract::Seasonal influenza causes significant morbidity and mortality in adults and children. However, a worldwide influenza pandemic could cause considerably more deaths (20-40 million) and would majorly disrupt everyday life in most countries. Oseltamivir has proven to be safe and effective for the prevention or treatment o...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.6.14.2493

    authors: Oxford J

    更新日期:2005-11-01 00:00:00

  • The trade-off dilemma in pharmacotherapy of COVID-19: systematic review, meta-analysis, and implications.

    abstract:INTRODUCTION:The coronavirus disease 2019 (COVID-19) caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has infected millions of people worldwide and has contributed to over 650,000 deaths. This review synthesizes the literature on COVID-19 pharmacotherapy to inform practice and policymaking. A...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,meta分析

    doi:10.1080/14656566.2020.1792884

    authors: Khan S,Gionfriddo MR,Cortes-Penfield N,Thunga G,Rashid M

    更新日期:2020-10-01 00:00:00

  • Prasugrel: a novel platelet ADP P2Y12 receptor antagonist. A review on its mechanism of action and clinical development.

    abstract::Antiplatelet therapy is the cornerstone of treatment for patients who present with acute coronary syndrome (ACS) or undergo percutaneous coronary intervention (PCI). Clopidogrel, in combination with aspirin, is associated with improvement in long-term clinical outcomes in these patients and is currently the antiplatel...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.9.16.2893

    authors: Angiolillo DJ,Suryadevara S,Capranzano P,Bass TA

    更新日期:2008-11-01 00:00:00

  • Adjunctive strategies in the treatment of refractory bipolar depression: clinician options in the absence of a systematic database.

    abstract::Multiple approaches to enhancing antidepressant treatment response in bipolar depression are available and should, in many instances, be explored despite a lack of definitive controlled trial literature supporting their efficacy. Given that the morbidity of depression is three times greater than mania in bipolar illne...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.6.4.531

    authors: Post RM

    更新日期:2005-04-01 00:00:00

  • Pharmacotherapy of hypercholesterolaemia: statins in clinical practice.

    abstract::The objective of this article is to evaluate the roles of the lipid-lowering class of 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors (statins) in reducing cardiovascular events and to review their mechanism of action based on in vitro and in vivo studies. The clinical outcome of 15 major clinical...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.1.4.683

    authors: Moghadasian MH,Mancini GB,Frohlich JJ

    更新日期:2000-05-01 00:00:00

  • Current and future therapies for the treatment of histamine-induced angioedema.

    abstract:INTRODUCTION:Angioedema, a sudden, self-limited swelling of localized areas of any part of the body that may or may not be associated with urticaria, is thought to be the result of a mast-cell mediated process versus a bradykinin etiology. Understanding the mechanism is key in determining the proper treatment. Areas Co...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1080/14656566.2017.1282461

    authors: James C,Bernstein JA

    更新日期:2017-02-01 00:00:00

  • Somatropin for the treatment of short bowel syndrome in adults.

    abstract::Somatropin (rDNA origin) injection (Zorbtive) is a highly purified preparation of human growth hormone (GH) produced from a mammalian cell line by recombinant DNA technology. It is the only human GH approved for the treatment of short bowel syndrome in patients receiving specialised nutritional support. The process of...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.6.10.1741

    authors: Matarese LE,Abu-Elmagd K

    更新日期:2005-08-01 00:00:00

  • A pharmacogeneticist's look at drug effects and the drug development process: an overview.

    abstract::This paper describes the functional roles of the closely related pharmacogenetic and pharmacogenomic sciences in medicine. Firstly, they provide means for a better understanding of the function of drugs, and particularly of the differences of drug action between individuals and also between racially categorised popula...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.6.8.1299

    authors: Kalow W

    更新日期:2005-07-01 00:00:00

  • Sorafenib: a clinical and pharmacologic review.

    abstract:IMPORTANCE OF THE FIELD:Sorafenib is an oral receptor tyrosine kinase inhibitor that inhibits Raf serine/threonine kinases and receptor tyrosine kinases (vascular endothelial growth factor receptors 1, 2, 3 and platelet-derived growth factor-beta, Flt-3 and c-kit) that are implicated in tumorigenesis and tumor progress...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.2010.496453

    authors: Iyer R,Fetterly G,Lugade A,Thanavala Y

    更新日期:2010-08-01 00:00:00

  • Photodynamic therapy using 5-aminolaevulinic acid for the treatment of dysplasia in Barrett's oesophagus.

    abstract:BACKGROUND:5-Aminolaevulinic acid (ALA) is the naturally occurring metabolic precursor of an endogenously formed photosensitiser, protoporphyrin IX. It is used topically to treat benign and malignant skin disorders by a process called photodynamic therapy (PDT). Recently, data are emerging on its systemic use in the tr...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.9.5.851

    authors: Dunn J,Lovat L

    更新日期:2008-04-01 00:00:00

  • Enhancing intracellular taxane delivery: current role and perspectives of nanoparticle albumin-bound paclitaxel in the treatment of advanced breast cancer.

    abstract:INTRODUCTION:Docetaxel and paclitaxel are among the most active agents for the treatment of breast cancer. These first-generation taxanes are extremely hydrophobic; therefore, solvents are needed for its parenteral administration. Albumin nanoparticle technology allows for the transportation of such hydrophobic drugs w...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.2012.651127

    authors: Guarneri V,Dieci MV,Conte P

    更新日期:2012-02-01 00:00:00

  • Development of semagacestat (LY450139), a functional gamma-secretase inhibitor, for the treatment of Alzheimer's disease.

    abstract:BACKGROUND:Alzheimer's disease is thought to be caused by increased formations of neurotoxic amyloid beta (A beta) peptides, which give rise to the hallmark amyloid plaques. Therefore, pharmacological agents that reduce A beta formation may be of therapeutic benefit. OBJECTIVE:This paper reviews the pharmacology and c...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656560903044982

    authors: Henley DB,May PC,Dean RA,Siemers ER

    更新日期:2009-07-01 00:00:00

  • Recommendations for the management of migraine in paediatric patients.

    abstract::Migraine is a common and disabling condition in children and adolescents. The complexity of migraine on a pathogenetic and clinical level results from the interaction between biological, psychological and environmental factors. Appropriate management requires an individually tailored strategy giving due consideration ...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.8.6.731

    authors: Balottin U,Termine C

    更新日期:2007-04-01 00:00:00

  • Treatment modalities for bacterial rhinosinusitis.

    abstract:IMPORTANCE OF THE FIELD:Rhinosinusitis is a common illness that represents a substantial economic burden. The vast majority of cases resolve spontaneously but a small proportion develops a secondary bacterial infection. Accurate diagnosis of rhinosinusitis depends upon clinical assessment. Isolation of the causative ag...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656561003598901

    authors: Brook I

    更新日期:2010-04-01 00:00:00

  • Pegaptanib sodium for the treatment of age-related macular degeneration.

    abstract:BACKGROUND:Pegaptanib sodium, the first aptamer therapeutic approved for use and the first antiangiogenic agent used to treat ocular neovascular disease, acts by inhibiting the 165 isoform of vascular endothelial growth factor believed primarily responsible for pathologic ocular neovascularization and vascular permeabi...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.9.3.499

    authors: Apte RS

    更新日期:2008-02-01 00:00:00

  • The efficacy and safety of teneligliptin added to ongoing metformin monotherapy in patients with type 2 diabetes: a randomized study with open label extension.

    abstract:OBJECTIVE:The study investigated the efficacy and tolerability of teneligliptin co-administered to patients with type 2 diabetes mellitus (T2DM) who were inadequately controlled by stable metformin monotherapy ≥ 1000 mg/day. METHODS:A total of 447 patients from 55 European centers who completed a 14-day screening and ...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,随机对照试验

    doi:10.1080/14656566.2016.1190334

    authors: Bryson A,Jennings PE,Deak L,Paveliu FS,Lawson M

    更新日期:2016-07-01 00:00:00

  • Short-term medical management of hydrocephalus.

    abstract::Hydrocephalus is an excess accumulation of cerebrospinal fluid in or around the brain that can be produced by a broad spectrum of disorders. It can develop at any age and its incidence is increasing, both in infants and adults. Although the standard treatment of hydrocephalus is cerebrospinal fluid shunting, there are...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.6.9.1525

    authors: Poca MA,Sahuquillo J

    更新日期:2005-08-01 00:00:00

  • Seborrhoeic dermatitis: current treatment practices.

    abstract::Seborrhoeic dermatitis (SD) is a recurrent, chronic inflammation of the skin that occurs on sebum rich areas such as the face, scalp and chest, characterised by red scaly lesions. The are many studies indicating that Malassezia yeasts play an important role in the aetiology of this condition, most of the evidence for ...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.5.8.1755

    authors: Gupta AK,Kogan N

    更新日期:2004-08-01 00:00:00

  • Characteristics and outcomes of patients with EGFR-mutation positive non-small-cell lung cancer receiving gefitinib beyond radiological progression.

    abstract:BACKGROUND:This study aimed to analyze the characteristics and outcomes of patients suffering from non-small-cell lung cancer (NSCLC) with epidermal growth factor receptor mutations (EGFRm+) receiving gefitinib who remained clinically stable following confirmation of progressive disease (PD) using Response Evaluation C...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章

    doi:10.1080/14656566.2018.1484903

    authors: Hosomi Y,Tanai C,Yoh K,Goto Y,Sakai H,Kato T,Kaburagi T,Nishio M,Kim YH,Inoue A,Hasegawa Y,Isobe H,Tomizawa Y,Mori Y,Minato K,Yamada K,Ohashi Y,Kunitoh H

    更新日期:2018-07-01 00:00:00

  • 72nd Meeting of the American Heart Association. November 1999, Atlanta, Georgia, USA.

    abstract::The American Heart Association annual meeting must be one of the largest scientific gatherings, attracting over 30,000 delegates. The meeting at the end of last year was held in Atlanta, USA, the 2000 meeting will be in New Orleans, USA. The following highlights represent my own interests. ...

    journal_title:Expert opinion on pharmacotherapy

    pub_type:

    doi:10.1517/14656566.1.3.581

    authors: Lunnon MW

    更新日期:2000-03-01 00:00:00

  • The treatment of neoplastic meningitis.

    abstract::Neoplastic meningitis (NM) is a debilitating complication of cancer that occurs when tumour cells infiltrate the leptomeninges. Treatment often includes direct installation of chemotherapy into the cerebrospinal fluid either by lumbar puncture or the use of a ventricular reservoir, radiation therapy, systemic chemothe...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章

    doi:10.1517/14656566.5.9.1929

    authors: Armstrong TS,Gilbert MR

    更新日期:2004-09-01 00:00:00

  • Cardiac sodium channels and inherited electrophysiological disorders: an update on the pharmacotherapy.

    abstract:INTRODUCTION:Since the recognition of inherited sodium (Na(+)) channel disease, the cardiac Na(+) channel has been extensively studied. Both loss-of-function and gain-of-function mutations of the cardiac Na(+) channel are associated with cardiac arrhythmia and sudden cardiac death. Pathophysiological mechanisms that ma...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1517/14656566.2014.936380

    authors: van Hoeijen DA,Blom MT,Tan HL

    更新日期:2014-09-01 00:00:00

  • Current and future treatments of alopecia areata and trichotillomania in children.

    abstract:INTRODUCTION:Treatment options for hair disorders are generally very limited. These options are even more limited in children due to the lack of trials and clinical research. Moreover, physicians are sometimes scared to treat children with drugs without safety data, especially because most hair disorders are benign. A...

    journal_title:Expert opinion on pharmacotherapy

    pub_type: 杂志文章,评审

    doi:10.1080/14656566.2016.1217990

    authors: Iorizzo M,Oranje AP

    更新日期:2016-09-01 00:00:00