Lysosomal Storage Disorders

Sep 22, 2021| Posted in: Advocacy, Autoimmune / Autoinflammatory Disorders, Cancers, Congenital And Genetic Conditions, Diagnosis, Drug Development, Endocrine Disorders, Expert Perspectives, Gastrointestinal Diseases, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lung Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, News, Ophthalmology/Eye Diseases, Regulations, Skin Conditions, Treatment

What the NORD Breakthrough Summit Will Look Like in 2021

Mary Dunkle of NORD discusses the upcoming Rare…
Sep 21, 2021| Posted in: Advocacy, Autoimmune / Autoinflammatory Disorders, Cancers, Congenital And Genetic Conditions, Diagnosis, Drug Development, Endocrine Disorders, Expert Perspectives, Gastrointestinal Diseases, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lung Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, News, Ophthalmology/Eye Diseases, Regulations, Skin Conditions, Treatment

CheckRare Panel Discussion: Data Silos Are Hindering Rare Disease Research

Great conversation with Drs Paul Howard, Eric March,…
Sep 8, 2021| Posted in: Congenital And Genetic Conditions, Lysosomal Storage Disorders, Metabolic Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases

Niemann-Pick Community Devastated by FDA’s Denial of Approval of Arimoclomol

Joslyn Crowe, executive director of the National Niemann-Pick…
Sep 3, 2021| Posted in: Autoimmune / Autoinflammatory Disorders, Cancers, Congenital And Genetic Conditions, Drug Development, Endocrine Disorders, Gastrointestinal Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lung Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, News, Ophthalmology/Eye Diseases, Skin Conditions, Treatment

2021 Orphan Drugs: PDUFA Dates and FDA Approvals

Rare diseases and orphan drugs are at the…
Aug 6, 2021| Posted in: Congenital And Genetic Conditions, Heart Diseases, Lung Diseases, Lysosomal Storage Disorders, Musculoskeletal Diseases

FDA Approves New ERT, Avalglucosidase Alfa, for Late-onset Pompe Disease

The Food and Drug Administration (FDA) has approved…
Jul 29, 2021| Posted in: Congenital And Genetic Conditions, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases

Mechanism of Action of Hydroxypropyl Betacyclodextrin to Treat Niemann-Pick Disease

Sharon Hrynkow, MD, Chief Scientific Officer and Senior…
Jul 23, 2021| Posted in: Congenital And Genetic Conditions, Drug Development, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases

Niemann-Pick Disease Clinical Trial (Phase 3) Enrolling Patients

Sharon Hrynkow, MD, Chief Scientific Officer and Senior…
Jul 16, 2021| Posted in: Autoimmune / Autoinflammatory Disorders, Lysosomal Storage Disorders

Evidence of Complement Activation in Lysosomal Storage Disorders

Jörg Köhl, MD, Professor and Director at the…
Jul 1, 2021| Posted in: Congenital And Genetic Conditions, Heart Diseases, Lung Diseases, Lysosomal Storage Disorders, Musculoskeletal Diseases

Positive Safety and Efficacy Profile for New Pompe Disease ERT

Hani Kushlaf, MD, Associate Professor of Neurology and…
Jun 18, 2021| Posted in: Congenital And Genetic Conditions, Lysosomal Storage Disorders, Metabolic Disorders, News

FDA Denies Approval of Arimoclomol for the Treatment of Niemann-Pick Type C

The U.S. Food and Drug Administration (FDA) has…

Gaucher Disease Research Highlights

This CME activity highlights the latest information about Gaucher disease and provides expert analysis of its clinical relevance.

Current and Emerging Therapies for Lysosomal Storage Disease

Drs. Goker-Alpan and Zimran provide an overview of current and emerging therapies for lysosomal storage diseases in this CME program.

Niemann–Pick Disease Type C Learning Center

Niemann-Pick disease type C (NPC) is a disabling, lysosomal storage disorder that has been diagnosed prenatally, neonatally, during childhood, and even into adulthood.

Fabry Disease Research Highlights

This CME activity highlights the latest information about Fabry disease from WORLDSymposium 2021.

Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency Learning Center

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic disorder that affects the central nervous systems of young patients.

Mucopolysaccharidosis I CME Program

Paul Orchard, MD from the University of Minnesota Medical School provides an overview of Mucopolysaccharidosis I in these CME and CNE courses. Dr. Orchard discusses the importance of newborn screening and genetic counseling, and the challenges of diagnosing and treating patients with MPS I.

Lysosomal Storage Disorders

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