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A Parent’s Perspective

The following family stories, developed by Packer Forbes on behalf of Actelion Pharmaceuticals, aim to raise awareness of Niemann-Pick Disease Type C (NP-C) amongst healthcare professionals and the public,  to improve recognition of symptoms and to reduce feelings of isolation in those affected.

These personal stories highlight the impact that NP-C has on Hollie and Annie, as well as their families.

Annie’s Story – Living with a Genetic Condition

 

Hollie’s Story – Our Journey to Diagnosis

Summary of Hollie’s and Annie’s Stories

Summary of the work of NPUK

In 2011, NPUK was delighted to have been awarded £25,000 in recognition of its work to support people affected by Niemann-Pick diseases. The Charity beat more than 400 organisations from around the UK to become one of ten winners of the GlaxoSmithKline (GSK) IMPACT Awards, run in partnership with health think-tank The King’s Fund. The following short films gives an overview of the work undertaken by NPUK.

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#ChildrenAtTheHeart

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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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