Lysosomal Diseases New Zealand

Chairperson’s report to LDNZ Annual Meeting – November 2005

This report covers the financial year July 2004 to June 2005 but also includes comments up to date to November 2005.

There were four significant achievements in the past 16 months for LDNZ:

  1. Pharmac finally gave its approval for increased dose for three Gaucher patients nearly 2 years after the expert panel first made its recommendations, and after a continuing series of calls, meetings, letters and emails by LDNZ to MPs, the Ministry of Health and Pharmac over a 2 year period.
  2. The government announced as a result of the coalition agreements they will “develop a long-term medicines strategy to ensure quality pharmaceutical usage in the health sector”. LDNZ has worked hard with a number of other support groups to do the political lobbying towards this strategy. We hope that a new medicine strategy will avoid the need for constant battles over access to medicines one by one.
  3. The Human Assisted Reproductive Technology Act was passed and the guidelines were eventually approved for Pre-implantation Genetic Diagnosis, following a lot of input from us through the NZ Organisation for Rare Disorders. While this was great progress, it is disappointing that funding of the procedure has still not been approved.
  4. The Sanfilippo dogs stolen from Massey gave us publicity we could not have bought when the animal rights crowd made the biggest bungle in years and enabled us to get discussion of Sanfilippo, Lysosomal diseases, family experiences and the importance of research, onto both major TV channels over two nights, into daily papers over several days, onto national radio news, and a special feature on 20/20 the following week.

Despite the development of new enzyme replacement therapies for Fabry disease and MPS1 (Hurler disease), Pharmac has so far refused funding for these treatments, and continued lobbying will be required to ensure our patients get a fair deal out of the health system. One MPS1 patient is receiving treatment under a compassionate use grant by Genzyme, without any funding support from our health system.

Other therapy advances

  1. Enzyme replacement therapies for MPS6 (Maroteaux-Lamy disease), Pompe disease and MPS2 (Hunter disease) are now well advanced with licensing approval now granted or expected soon in several countries, so it will just be a matter of time before they are available here, and the issue of government funding will have to be addressed for these three diseases as well. Treatment for infantile Pompe is feasible now if any cases are diagnosed and because of its rapid progression but effective treatment by ERT, it may well be the test case for the whole group of diseases.
  2. Bone marrow transplant (and haematopoietic stem cell transplants). This procedure continues to be the first-line treatment for several of the Lysosomal diseases and a recent transplant for a Metachromatic Leukodystrophy patient brings to four the total number of transplants we know of for Lysosomal diseases in NZ.
  3. Gene therapy. There are several examples we know of where gene therapy or other innovative approaches (e.g. intrathecal injection of enzyme) have been used successfully to treat animals with naturally occurring lysosomal disease. Just last month there was an announcement of FDA approval for experimental stem-cell treatment of several patients with Batten disease. This is the first example we know of where human clinical trials of these leading-edge treatments are being done for our group of diseases. It is exciting to see progress but also frustrating that it all takes such a lot of time from the basic research to development of therapy.

Trust meetings
The trustees got together for one face to face meeting in Auckland in February 2005 for a planning meeting, at which our new trustee Audrey Jarvis was welcomed to the Board.
The major topics at our meetings were:

  1. Aiming to hold a major conference in 2007/08 in conjunction with another regional conference in Australia, and working towards supporting a maximum number of families to attend.
  2. Planning our approach to winning government subsidy for new therapies. We agreed that working with other groups is our best option, as well as continuing to pursue individual cases in search of the perfect test case.
  3. Our continued support for research (including animal research) to understand, diagnose, prevent, treat and eventually cure these diseases, and many other health conditions.
  4. Maintaining our website as a key resource for families and the prime public presence of LDNZ.
  5. Noting the emerging controversy about stem cell therapies, as far as the source of those stem cells is concerned, and discussing how LDNZ might respond to that issue.
  6. Using the National Health Committee’s review of chronic conditions as the way to get many of the practical issues faced by our families, onto the policy agenda.
  7. Recognising the need for clinical services to be able to adequately manage patients with our diseases, and promoting the need for quality comprehensive secondary services able to provide adequate care. 
  8. Discussing the need for holistic care and support for patients and families and seeing an opportunity to make gains in this through the Carers Alliance network that is being formed.
  9. We supported Jenny Noble and her daughter Sara to attend a medical workshop and family meeting for the glycoprotein storage group of diseases in Michigan in April 2005. There were no other conference attendances supported by LDNZ during this period, but we now have some new opportunities to consider this for new families.

Reports on grants made
In the previous year we made three grants for research totalling $13,000. Reports were received from Bob Jolly and Dave Palmer on their work with their animal models. The report from Callum Wilson on Gaucher outcome data is in draft form and is expected soon when some late data is added to complete the report.

Activities during this time
Following on from the plan set at our trustees meeting in February, a lot of work has gone into the following items:

  1. National Health Committee review of chronic conditions – we made sure that in conjunction with the NZ Organisation for Rare Disorders we made a substantial submission that emphasised the special consideration that needs to be made in policy for rare diseases like ours. In particular we emphasised that the bias towards primary care in that report may be relevant to common disorders like diabetes and
  2. heart conditions, but is not an appropriate place to provide the specialist care needed for our diseases. We pushed for more research into our concerns and we were pleased to note that a Sanfilippo family was among a small group of families questioned in detail about health and disability support issues for them. We hope this will help the NHC appreciate the particular needs for rare diseases like ours.
  3. Family connections – we made contact with 6 new families and provided a significant amount of support to one new and one existing family with particularly difficult issues to mange. Sadly, a number of affected children passed away during this time also. Our thoughts are with their families. Jenny will report in more detail about support to families.
  4. The pursuit of Pharmac over Gaucher treatment issues, mentioned above in the highlights section, took a considerable amount of time to achieve that outcome. Several other families have been supported in their attempts to get therapy for Fabry disease, but so far without success.
  5. A lot of time was spent this year working with other groups to get a review of medicines policy. This approach proved successful when the new government announced the review as part of the negotiations to form a government. More work will be required on submissions to that review, but we are certainly on the right track. When the Access to Medicines Coalition is formally launched this week it will probably be the first lobby group ever to achieve its major goal before its public launch. 
  6. Taking part in the Carers Alliance – this is another item endorsed by our trustees meeting early this year and the result is that I have been selected as the Chairperson of that group. We are working with 35 different support groups to give more energy to the needs of those looking after sick and disabled family members, and we have just recently had some good progress with indications that officials and government are keen to work with us to discuss a Carer Strategy for NZ. 
  7. We continue to promote a family/patient perspective on the need for research into rare disorders. To achieve this we have given a lead through NZORD in making submissions to the Health Research Council on research policy, and are working to set up a rare disease biobank for animal and human rare disease samples. This was the issue that drew us quickly into the public discussion when the Sanfilippo dogs were stolen from Massey University, but quickly returned after the publicity we contributed to. 
  8. Promoting the completion of guidelines on Pre-implantation Genetic Diagnosis is anther task that took up many hours/days of effort, and several LDNZ families were involved in the range of discussions, consultations and research involved. We can be very pleased with the final guidelines as approved, but there is still a major issue to be faced in getting government funding for the procedure for at-risk couples.
    (note – I have been appointed to the Advisory Committee on Assisted Human Reproductive Technology which makes recommendations on guidelines and policy in this area, including human reproductive research and stem cell research). 
  9. Chasing up the District Health Boards about their approach to services for our disorders and other rare diseases and the problems of regional access variations, are still on the agenda for action, but have not yet been followed up.

Use of the website continues to grow with around 1400 distinct users per month recently. This is three times the use of 3 years ago, double the use of 2 years ago, and nearly a 50% increase on this time last year.
We have an opportunity to transfer the site onto the NZORD groups template website at no cost to us. Funding of the transfer and setup has generously been offered by the Deane Endowment Trust, and a key advantage is there will be no ongoing costs to LDNZ, as all future hosting and domain costs will be met by NZORD. Another advantage is password access so Jenny will be able to work on it too as it will now be off my personal internet account, and an ongoing saving to LDNZ of around $530 per year.

International links
LDNZ keeps in touch with progress in GOLD, the Global Organisation for Lysosomal Diseases, and Jenny and I are both on the board of ISMRD the International Advocate for Glycoprotein Storage Diseases. However it does feel at times that we are overlooked by other networks in the Lysosomal world as we often hear about things after the event.

Board composition
We have talked in the past about increasing board numbers, and in particular to get more trustees who are independent of any direct interests. However it is not easy to find people who are willing and able to take on the role. I suggest we discuss whether we aim for more trustees, or continue to manage with the numbers and composition we have. My view is that it works adequately, though not perfectly, as it is, and there is limited value in putting more effort into finding additional trustees, given the small scale and limited finances of our group.

Thank you
And finally, a special thank you to LDNZ trustees for their support over this time. There is not a lot of call on your time and advice (perhaps there is scope for more discussion and feedback?) but what you do contribute is very much appreciated.
Extra special thanks are due to Jenny Noble who does a huge amount of voluntary work for LDNZ. Without her sterling efforts there would not be nearly so much progress to report.

John Forman
21 November 2005