Welcome to The Niemann-Pick Disease Group (UK)

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

NIH/TRND Cyclodextrin Clinical Trial and Worldwide NPC Community Conference Call

With thanks to our colleagues at the National Niemann-Pick Disease Foundation in the USA, we are able to share the following update regarding the NIH/TRND Cyclodextrin Clinical trial currently being held at the NIH in Bethesda, Maryland, USA.

Please click here to hear a recording of the NIH/TRND NPC Clinical Trial conference call from Friday,May 3rd, 2013

The written transcript for the May 3rd NIH TRND NPC Cyclodextrin Clinical trial conference call is now available on the NNPDF web site. To access it, please click here

Please contact the NPDG (UK) Central Office if you have questions or require further information relating to this matter.

Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Development Efforts

Genzyme, a Sanofi company, is continuing its efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B). The potential treatment is an enzyme replacement therapy, recombinant human acid sphingomyelinase (rhASM), that Genzyme is evaluating for the treatment of the non-neurological manifestations of ASMD. We are initiating recruitment of a Phase 1b clinical trial to evaluate the safety and tolerability of rhASM when administered once every two weeks.

The first patient is scheduled to begin screening at Mt. Sinai School of Medicine in New York, NY in late March, 2013. The trial is planned to enroll six adults with Niemann-Pick B at two study centers, Mt. Sinai and St. Mary’s Hospital in Manchester, UK. Each participant in the trial is expected to receive rhASM once every two weeks for 6 months, beginning at a low dose (0.1 mg/kg dose) and gradually increasing to a maximum dose of 3 mg/kg.

Upon completion of the 6-month trial, participants may have the option to continue receiving rhASM on a long-term basis under an extension protocol. Genzyme also continues to make plans for a Phase 2 trial to evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks for one year.

In addition to the progress in our clinical development program, we continue to work with the global Niemann-Pick patient community to better understand and support its needs. We remain committed to the development of rhASM and appreciate the ongoing support of the global Niemann-Pick disease community as we move forward. If you have any questions, please contact Genzyme’s Patient Advocacy team at patient.advocacy@genzyme.com.

Please click here to view the latest update on the Clinical Trial of Enzyme Replacement Therapy (ERT)
for Acid Sphingomyelinase Deficiency (ASMD)

Orphazyme Announces Proposed Clinical Trial of rhHSP70 for NPC

Orphazyme, a Danish biotech company, announced its intention to conduct a trial of rhHSP70 as a therapeutic intervention in NPC disease, at a scientific conference in Italy this week (15th-19th April 2013).

Orphazyme has provided information for patients and families which will be generally available through patient organisations across the world. This information has been issued on the understanding that much has still to be confirmed / agreed by the regulatory authorities, so please be aware that some of the details may change. To view this information, please click here.

To assist you, we have produced an additional document that summarises the main points. To view this document, please click here.

In order to facilitate communication further, Orphazyme intends to launch a web page for the trial and to include a “Frequently Asked Questions” section on the page. As soon as this information is available, we will share it with you. Further information about Orphazyme can be found on their website: http://www.orphazyme.com/

At this stage all of the information we have has been included in the attached statements and has been provided by Orphazyme to help raise awareness amongst families.

If you would like to discuss this announcement, please contact: Toni Mathieson by email toni@niemann-pick.org.uk or telephone 0191 415 0693.

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

SPRING 2013

Niemann-Pick Conference 2012 Report

Niemann-Pick

Family Bulletin

February 2013

Hope For Hollie Campaign Newsletter

June 2012

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.

Shani Makes a Difference in the USA

Shani Miller, age 18, who has ASMD Niemann-Pick disease type B, has made a big impact in the USA without even leaving her home in the UK. Shani’s image, in the form of a 15-foot banner, has been used in the atrium of Genzyme’s Office in Cambridge, Massachusetts, to promote Niemann-Pick Disease Awareness Month which in the USA is October. The photograph shows colleagues from Genzyme’s Research & Development and Rare Genetic Diseases team standing behind the banner, which has been reported as ‘an incredible sight’ it. Many thanks to Shani for participating in the photo shoot (which was arranged by Genzyme) and to Genzyme themselves for using the photos to raise much needed awareness of ASMD Niemann-Pick disease type B.

Shani’s image has also been included in a video about Genzyme’s history. This is available to view on You Tube:

https://www.youtube.com/watch?v=IZv1ytBWhPA&feature=plcp

Introducing Laura Bell, New Clinical Nurse Specialist in Niemann-Pick Diseases

The Niemann-Pick Disease Group (UK) is very pleased to inform you that our new Clinical Nurse Specialist, Laura Bell, took up her post on Monday 3rd September 2012.

Laura will be based at Hope Hospital, within Salford Royal Hospital Trust in Manchester, where she has been part of the staff team for seven years. Laura joined the team in metabolic medicine team in 2008, where she held the position of disease specific nurse for Niemann-Pick Disease and Pompe Disease.

During the next few months, Laura will be working closely with our out-going Clinical Nurse Specialist, Jackie Imrie and will be contacting our famililes to introduce herself. If you would like to contact Laura, you can reach her by email laura@niemann-pick.org.uk or on any of the following telephone numbers:

Direct Line - 0161 206 0228
Metabolic Medicine Department - 0161 206 4365
Mobile – 07791 499 555

If you would like any further information, or if you have any questions, please do contact me at the NPDG (UK) Central Office, by email niemann-pick@zetnet.co.uk or telephone 0191 415 0693.

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.