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Niemann-Pick Disease

Niemann-Pick diseases are a group of rare and devastating inherited lysosomal storage disorders that can affect both children and adults:

Acid Sphingomyelinase Deficiency (ASMD) includes Niemann-Pick Disease type A (NP-A) and type B (NP-B), which are caused by a lack of the enzyme acid sphingomyelinase leading to a build-up of toxic materials in the body. Niemann-Pick Disease Type C (NP-C) is a hugely life-limiting neurodegenerative disease caused by an accumulation of lipids (fats) in the liver, brain and spleen.

At NPUK we are dedicated to supporting the individuals and families affected by these conditions. We offer practical and emotional support, provide information and strive to raise further awareness of the disease(s) in the hope of facilitating research and potential therapies.

Niemann-Pick Disease

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29.11.19

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19.11.19

Orphazyme receives Breakthrough Therapy Designation for arimoclomol in Niemann-Pick Disease Type C (NPC)

Kim Stratton, Chief Executive Officer at Orphazyme, commented, “We are delighted with FDA’s decision to grant Breakthrough Therapy Designation to arimoclomol for NPC. Arimoclomol has been shown to have a clinically meaningful effect on disease progression in NPC that is further supported by a biomarker effect indicating an effect on the biological underpinnings of the disease and a favorable safety and tolerability profile. We are committed to bringing this product to patients as soon as possible. Breakthrough Therapy Designation is designed to expedite the development and review of products for serious diseases with the direct involvement of senior staff and we look forward to working closely with the FDA to further advance arimoclomol. Our preparations for filing in the US are underway and we are on track to submit a New Drug Application in H1 2020.”

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