Welcome to The Niemann-Pick Disease Group (UK)

Making a positive difference to the lives of those affected by Niemann-Pick Diseases

DECEMBER 2011 LATEST UPDATE from Dr Forbes (Denny) Porter and the Therapeutics for Rare and Neglected Diseases (TRND) Team

Dr Forbes (Denny) Porter, of the National Institute of Health (NIH), in Bethesda, Maryland, USA, has provided updates regarding the work of TRND, the NIH and the US Food and Drug Administration: to read more, click here.

Following a presentation made to the NPDG (UK) Board of Trustees by Professor Fran Platt, University of Oxford, it was agreed that the NPDG (UK) would provide funding for a project, which will contribute to the collection of data for the proposed NIH clinical trial of Cyclodextrin for NP-C, planned to start in 2012: to read more, click here

The Niemann-Pick Disease Group (UK) is 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 this year’s GlaxoSmithKline (GSK) IMPACT Awards, run in partnership with health think-tank The King’s Fund. For more information click here.

Niemann-Pick News Autumn 2011

Fundraising Bulletin June 2011

Living With A Genetic Condition - Kait Pyne tells her story to Sparks

Living with a genetic condition

Annie holding a teddy bear in her bedroom When Annie was diagnosed with Type C Niemann-Pick Disease aged nine, her family was told she was unlikely to live until her teens. Her mother Kait tells Sparks what it’s like living with this degenerative genetic condition. To read more click here.

The Big Lottery Reach Communities Programme - Success!

The Niemann-Pick Disease Group (UK) is delighted to announce that our work is to be supported by a grant from the Big Lottery Fund Reaching Communities Programme over the next three years. We would like to thank the Big Lottery Fund for choosing to support our organisation with the grant, for the amount of £172,601, which has given us the fantastic opportunity to enhance our current support service with a new project, entitled the ‘Family Care and Interactive Support Service’.

At the end of this year, our much loved, respected and relied upon Clinical Nurse Specialist, Jackie Imrie will retire. The NPDG (UK) is happy to confirm that Jackie has kindly agreed to continue working with us until such time as a new post holder is in place. Therefore, Jackie will still be available to provide you with support and advice as needed. At present we are finalising new contact details for Jackie and these will be distributed very soon.

If you have any questions at all, please do contact Sue or Toni at the NPDG (UK) Central Office, by telephone 0191 415 0693 or email niemann-pick@zetnet.co.uk

Niemann-Pick Disease Type C Patient Case Studies

In February 2010 Packer Forbes, on behalf of Actelion Pharmaceuticals produced a DVD to raise awareness of NP-C to educate both the public and healthcare professionals in this area in order to improve recognition of NP-C symptoms and help families in a similar situation to feel less isolated. Both Hollie and Annie have been diagnosed with NP-C and this DVD highlights the impact that NP-C has had on Hollie and Annie, as well as their families. You can view the DVDs by clicking here.