Seminar: Lysosomal Storage Diseases (LSD)

from the beginning

Lysosomal Storage Diseases (LSD)

IMPORTANT NOTICE

1.Overview of Lysosomal Storage Diseases (LSD)

• Overview of Lysosomal Storage Diseases

• What is the lysosome?

• What are Lysosomal Storage Diseases (LSDs)?

• Recognition of Lysosomal Storage Diseases (LSDs)

• Lysosomal Storage Diseases (LSDs) are inherited genetic diseases

• The List of Lysosomal Storage Diseases (LSDs)

• Lysosomal Storage Diseases (LSDs) are supported by Japanese Goverment

• There are multiple treatment approaches for Lysosomal Storage Diseases (LSDs) that are approved or under investigation

• Take-Home Messages: Lysosomal Storage Diseases (LSDs) Overview

2.Gaucher Disease

• What is Gaucher disease?

• What is Autosomal recessive inheritance?

• Gaucher Disease Mechanism

• Primary Clinical Manifestations of Gaucher Disease

• Bone symptoms in Gaucher disease

• Clinical Manifestation of Gaucher Disease

• Distribution of Gaucher disease types: Japan vs. World-wide

• Changes in Disease Type of Japanese Gaucher Disease

• Diagnosis of Gaucher disease (GD)

• Delayed diagnosis is thought to be due to lack of awareness of the disease or misdiagnosis

• Example of early diagnosis effort in Japan: Neonatal mass screening

• Treatment for Gaucher disease (GD)

• Other therapies

• Velaglucerase alfa (VPRIV) Mechanism of Action of Enzyme Replacement Therapy

• Multicenter, open-label extension, global phase 3 clinical study: Long term treatment study in adult and pediatric patients

• Clinical parameters were outside the reference ranges among untreated patients with Gaucher disease

• Achievement rate of treatment goal after administration of velaglucerase alfa (Study HGT-GCB-044: Pooled Anaysis)

• Velaglucerase alfa was Associated with Improvements Over 5 Years in Bone Health Among Patients with Gaucher Disease (Exploratory Data)

• Change in clinical parameters over 5 years among patients switching from imiglucerase to velaglucerase alfa

• Overall safety profile of velaglucerase alfa

• Take-Home Messages: Gaucher Disease

3.Fabry Disease

• What is Fabry disease?

• Reported incidence and prevalence of Fabry disease

• Fabry disease: X-linked recessive inheritance

• Fabry disease is a multisystemic disorder

• Natural course of Fabry disease by gender

• Schematic model of the progression of Fabry disease

• QoL is impaired in patients with Fabry disease

• Current methods for diagnosing Fabry disease and assessing patients

• A delay often occurs between disease onset and diagnosis

• Treatments for Fabry disease

• Phase 2/3 clinical trial: agalsidase alfa reduced neuropathic pain scores and stabilized renal function

• Open label extension: Agalsidase alfa reduced myocardial Gb 3 content and left ventricular mass

• 20-year Fabry Outcome Survey data

• Overall safety profile of agalsidase alfa

• Take-Home Messages: Fabry Disease

4.Hunter Syndrome (Mucopolysaccharidosis II)

• What is Hunter Syndrome (Mucopolysaccharidosis II)?

• Hunter Syndrome is an X-linked disorder present almost exclusively in male patients

• Symptoms of Hunter Syndrome

• The clinical spectrum of Hunter Syndrome

• Disease progression in non-neuronopathic Hunter Syndrome

• Disease Burden for Neuronopathic Hunter Syndrome

• Effective management of Hunter Syndrome requires a multidisciplinary team

• Current gold standard laboratory testing pathway for Hunter Syndrome diagnosis

• Early diagnosis of Hunter Syndrome is challenging and remains an unmet need

• Available treatments for patients with Hunter Syndrome

• TKT024 study: Phase 2/3 study design

• TKT024 study results: Idursulfase significantly improved the primary endpoint composite score compared with placebo at week 53

• TKT024 study results: safety profile of idursulfase

• Comparison of the survival times: untreated and treated patients with Hunter Syndrome

• Take-Home Messages: Hunter Syndrome (Mucopolysaccharidosis II)

• Today's Summary - Lysosomal Storage Diseases (LSDs)

5.Q&A Session

• Q&A Panelists

• Q&A 1

• Q&A 2

• Q&A 3

@

@

• Q&A 4

@