Treatment for Lysosomal Storage Diseases (LSDs)

Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders caused by defects in lysosomal homeostasis. There are over 60 LSD diseases, affecting 1 in 5000 people worldwide and most LSDs are without treatment.

Oxford researchers have identified interleukin 1-beta (IL-1β) antagonists that can be used to prevent and treat LSDs. This treatment targets mechanisms leading to inflammation that is triggered by lysosomal dysfunction. The team have demonstrated proof-of-concept on preclinical models for Sandhoff disease and Niemann-Pick type C disease. The treatment can be applied to any LSD that triggers inflammation.

Rare but severe diseases

Lysosomal Storage Diseases (LSDs) are rare inherited disorders afflicting between 5,000 and 10,000 people worldwide. Over 60 diseases belong to the LSD group and they are challenging to diagnose and treat. In 2004, approximately only 3,800 patients were receiving therapy.
LSDs affect many of the body’s systems but mainly attack the nervous system. They tend to present in the first few years of life and the rapid progression results in frequent hospitalisation. If left untreated, patients often die in their mid-teens. Therapeutic approaches for LSDs are limited and many of the available options only serve to improve the quality of life. In particular, some enzyme-replacement therapies are available, but they suffer from an inability to cross the blood-brain barrier and are therefore unable to address some central nervous system symptoms.

Addressing the need for treatment

A team at Oxford University have identified novel mechanisms, which lead to inflammation in LSDs. The researchers demonstrated that Interleukin 1-beta (IL-1β) antagonists have a therapeutic benefit in LSDs. IL- 1β, a potent pro-inflammatory molecule primarily produced by macrophages and dendritic cells, has multiple effects on other cells of the innate immune system and adaptive immune cells such as T cells. Proof-of-concept studies have been conducted on preclinical models for both Sandhoff disease and Niemann-Pick type C disease.

Oxford University Innovation has filed a patent application on this invention. We are interested in speaking with parties regarding the development of IL-1β antagonists as a therapeutic treatment for LSDs.

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