Fabry Disease (also known as Anderson Fabry Disease) is a progressive X linked inherited genetic disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. It is a devastating inborn error of metabolism with, particularly in the early stages, being played by cellular dysfunction and microvascular pathology being induced by lysosomal glycosphingolipid deposition.
Recombinant alpha-galactosidase A (alpha-Gal A), the enzyme that is deficient in patients with Fabry disease, and migalastat hydrochloride, an oral pharmacological chaperone that facilitates trafficking of alpha-Gal A to lysosomes, are therapeutic options for eligible individuals. The therapeutic management primarily focuses on the control of blood pressure, lipids, and proteinuria. ACE inhibitors and/or blockers are used in patients with proteinuria. Hypertension and hypercholesterolemia are be managed appropriately. The prophylaxis with anticoagulants is important in patients who have had ischemic attacks or stroke, and permanent cardiac pacing are considered in high-risk patients.
Emerging treatment strategies for Fabry disease involve the development of small molecule compounds, which are widely used for the treatment of a variety of diseases. Such small molecules account for approximately 80-90% of marketed drugs. Although enzyme replacement therapy is effective, there is a need for other therapeutic strategies, which can either serve as primary or supplemental treatments. Small molecule drug discovery is promising, as it could lead to new treatments for Fabry disease. The discovery of non-inhibitory chaperones, activators, or inhibitors of the enzymes that degrade glycosphingolipids, would be a breakthrough.
Currently the therapeutic pipeline of NPC Disease consists of approximately 9+ products in different stages of development and major drugs are in pre-clinical stage. The key players involved in the development of products for the treatment of Fabry Disease include Amicus Therapeutics (Fabry Gene Therapy); Freeline (FTL190); Greenovation Biotech (Moss-aGal); Idorsia Pharmaceuticals (Lucerastat); Moderna (mRNA-3630); Pharming (PGN005); Protalix Biotherapeutics (Pegunigalsidase alfa); Resverlogix Corp (Apabetalone); Sangamo Therapeutics (ST-920) and Sanofi Genzyme (Venglustat). Most products under development are small molecule and gene therapy.
The development and launch of these therapies are expected to lead to the better treatment and longer life span of the individuals with Fabry Disease.
TABLE OF CONTENTS
1. REPORT INTRODUCTION
1.1 Objective of the Study 10
1.2 Secondary Research 10
1.3 Scope of the report: 10
2. DISEASE OVERVIEW 11
2.1 Introduction 11
2.2 Etiology 12
2.3 Classification 13
2.4 Signs and Symptoms 14
2.4.1 The early and progressive clinical symptoms include: 14
2.5 Pathogenesis 15
2.5.1 Metabolic Defect 15
2.5.2 The Molecular Basis 17
2.5.3 Genotype/Phenotype Correlation 20
2.6 Diagnosis 21
2.6.1 Biochemical Diagnosis: 21
188.8.131.52 Measurement of a-Gal Activity in Cultivated Fibroblasts, Plasma, or Leukocytes 21
184.108.40.206 Measurement of α-Gal A Activity in Blood Spot Filter Paper 22
220.127.116.11 GL-3 Levels 22
2.6.2 Molecular Diagnosis 22
2.6.3 Molecular Analysis 23
2.7 Treatment 25
2.7.1 Clinical management of pediatric patients 25
2.7.2 Management of Fabry related pain in pediatric patients 26
18.104.22.168 Trigger management 26
22.214.171.124 Symptomatic therapy 26
126.96.36.199 Management of neuropathic pain 26
188.8.131.52 Management of psychological disturbances 27
2.7.3 Treatment Algorithm for the management of neuropathic pain in paediatric Fabry Disease patients 28
184.108.40.206 Enzyme replacement therapy 29
220.127.116.11 Recommendations for ERT initiation 30
2.7.4 Management in adults 31
18.104.22.168 Available Enzyme Replacement therapies 32
22.214.171.124 Initiation of enzyme replacement therapy 32
126.96.36.199 Expert panel recommendations for initiation of enzyme replacement therapy in adult patients with Fabry Disease 32
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