Back to Newsletter Index

December 2004 - from LDNZ Secretary, Jenny Noble

Hello Everyone,

It has been quite sometime since we produced a newsletter, but finally here it is. We are following a different format for those of you who have the Internet. There many links below where you can go and read more about Enzyme Replacement Therapy, Preimplantation Genetic Diagnosis and other interesting topics in the world of Lysosomal Diseases.

We would like to take this opportunity to welcome five new families to LDNZ, some we had lost over time but found again, and others who are very new.

They are Dianne Robertson, Suzanne Buckley, Heather and Allan Turner, Patricia Davey, and Rachel Wistrand. This brings our NZ contact list for Lysosomal Diseases up to 75 families, including half a dozen close relatives also on our list.

Family Stories and Photos

We are really keen to update our website and make it more family orientated. To do this we desperately need family stories and photos.

You may wonder how useful this is - From the ML perspective there have been many families contacting me because they are newly diagnosed or just were not aware of some of the issues surrounding ML. It is really important to be able to share your experiences with other families as some of our disorders are not well documented. Please if you would like to do this please contact either John or Jenny by e-mail or just send us your story and we will get it on the web.

Conferences

This year saw families from around New Zealand heading off to conferences, building networks and improving their knowledge base for their particular disorders.

Australian MPS Conference, April 2004:

Five families headed across the waters to join the Australian MPS families for their biennial conference. Hayden, Sarah and Tim enjoyed their catch up time with one another. I think they talked non stop. A disaster at the aquarium was the talk of the children's programme and was cause for everyone to have a good laugh.

1st International Glycoprotein Storage Disease Conference in Washington:

Paul and Jenny Noble and John Forman attended this conference, also in April this year. It was a special scientific workshop set up with the help of the US Office of Rare Disorders, and followed by a family conference of families affected by the nine Glycoprotein storage diseases.

Click here for a full report. 

International Lysosomal/MPS conference - Mainz, Germany:

Our newest Trustee, Philip McKinstry attended this meeting, as did John Forman while on his way to another conference in Europe about Intellectual Disability. Some interesting developments are noted in John's report, and a sense of optimism that significant progress can be expected in a number of Lysosomal diseases, over the next few years.

Click here for John's report.

Snippets on Therapy developments

MPS I

BioMarin and Genzyme Press Release re Aldurazyme and MPS I

Check out this web address http://www.biomarinpharm.com/patients-physicians-mps1.shtml to find out what is happening with MPS1. Treatment has commenced in the US and Europe and is spreading to other parts of the world. Here in New Zealand we have one patient using Aldurazyme, the new enzyme replacement therapy for this disease, under a compassionate use arrangement..

Genzyme Corp has set up a new website with information specifically on MPS I. The website is located at http://www.mps1disease.com

MPS II

TKT is evaluating new approaches to target the central nervous system and, if the results support it, hopes to conduct a trial to directly administer the enzyme into the central nervous system of individuals with MPS II in late 2005. On July 15, 2004, TKT announced that it has received fast track designation from the U.S. Food and Drug Administration (FDA) for iduronate-2- sulfatase (I2S), an enzyme replacement therapy to treat Hunter syndrome (MPS II). To read more about this exciting new advancement click on this link http://www.mpssociety.org/news-clinical.html

Note: The above link is no longer active, but you can read about the latest developments on I2S at the following link http://www.medicalnewstoday.com/articles/60714.php  or at the website of  Shire , the biopharmaceutical company that markets idursulfase as "Elaprase".

MPS III

Sanfilippo disease is regarded as the most difficult of the MPS disorders to plan a treatment for. However TKT have stated that if their objective of delivering enzyme into the central nervous system is successful with Hunter disease, they will expand their programme to target Sanfilippo disease.

Click on the following link to read a recent press release from TKT about some success with this in an animal model of Hunter disease.

http://phx.corporate-ir.net/phoenix.zhtml?c=95926&p=irol-newsArticle&ID=637718&highlight=

MPS VI

Aryplase Demonstrates Statistically Significant Benefit in Primary Endpoint Company Expects to File for Marketing Authorization in the United States and the European Union in the Fourth Quarter of 2004. Click on the link below to read the Press Release from BioMarin.

http://www.biomarinpharm.com/BM_PressReleases_PressReleases.html  (The previous link is no longer active; for more information about Aryplase go to the BioMarin press release archive at:   http://phx.corporate-ir.net/phoenix.zhtml?c=106657&p=irol-newsArticle&ID=650413&highlight=

There is more information also on their patient information page at this link:

http://www.biomarinpharm.com/BM_PatientInformation_PatientInformation.html  (Link no longer active.)

Fabry Disease

Enzyme Replacement Therapy for this disease is now being marketed by Genzyme and TKT. There is a very small number of patients in NZ with Fabry disease.

There is considerable uncertainty at this stage about access to therapy. As for most high cost treatments, Pharmac does not move quickly and it seems it will take some time, and discussion at a political level to resolve some of the difficult issues. A number of clinical matters will also need to be sorted out regarding criteria for treatment.

Metachromatic Leukodystrophy

Heme Biotech, a pharmaceutical company in Scandinavia, is developing a therapy for this Lysosomal disorder which currently affects at least two NZ families. Their work is at the toxicology testing phase and a Phase 1 clinical trial will follow if the current work succeeds. The link for Heme Biotech's website is http://www.hemebiotech.com/

(Note: The above link is no longer active.  Heme Biotech is now known as Zymenex.  You can read more about Zymenex and metachromatic leukodystrophy at this link.)

Alpha-Mannosidosis

This Lysosomal disease is also being worked on by Heme Biotech and their work is at the pre-clinical proof of principle stage. Clinical trials may occur within a couple of years.

Pompe Disease

This Lysosomal disease is under active research by Genzyme and they are planning a clinical trial in patients affected by the infantile-onset form of this disease, early in 2005.

Niemann-Pick disease

Genzyme are also conducting pre-clinical work on this lysosomal disease. We understand there are some NZ families affected by this disease, but we do not have contact with them.

Mucolipidosis Type III

Significant improvements in bone condition have been obtained by using a special class of drug called Bisphosphonate for this disease. Jenny Noble was instrumental in helping set up a trial here for this treatment in her two children, and news of the benefits is spreading rapidly to other families worldwide. Next year Jenny will be traveling to the US to meet with other ML3 families, support groups and researchers, to raise awareness about the treatment and to promote an international bone study for the use of this drug. Bisphosphonates have application for bone disease in other Lysosomal diseases as well, including Gaucher disease, and Jenny's work will help promote their possible application to others.

PGD - A new prevention strategy for New Zealand

Pre-implantation Genetic Diagnosis

The National Ethics Committee on Assisted Human Reproduction has been consulting recently on guidelines for this new technology. A combination of in-vitro fertilisation and genetic testing of the embryos offers a chance for families with a known mutation to avoid a repeat of the condition in later pregnancies. Though there has been some public controversy about this, LDNZ has noted a wide degree of interest from families here and overseas who have already had a child with a Lysosomal disease. A submission from NZORD, the NZ Organisation for Rare Disorders, is on their website at http://www.nzord.org.nz and states a clear preference for this technology to be available to New Zealand couples. We expect approval will be given in the New Year.

Dancing with Pharmac

Getting an answer from Pharmac on the Gaucher panel's recommendation for an increased dose for three Gaucher patients, has taken more than 18 months of consideration and reports, yet there is still no answer. John Forman has obtained some information from Pharmac under the Official Information Act, and met with them in late November to challenge the reasons for their delay.

The outcome of the meeting was a commitment by Pharmac to complete its studies and other work associated with these recommendations, and to refer them to the Board of Pharmac for a decision in the first quarter of 2005.

LDNZ certainly hopes the decisions get made before the two year anniversary of the first recommendation is up in April next year.

Have a safe and happy holiday period.

Regards,

Secretary, Lysosomal Diseases New Zealand
Board Member - ISMRD, the International Advocate for Glycoprotein Storage Diseases.
648 Esdaile Road
RD 6
Tauranga
New Zealand
Phone +64 7 548-2686
e-mail jenny.noble@xtra.co.nz
Websites http://www.ldnz.org.nz
http://www.mannosidosis.org