NZ Pompe Disease Conference 24 March Auckland

29 March 2018

This included the patients and their whanau, pharmaceutical companies investing in new therapies and producing current enzyme replacement therapies (ERT), and top researchers in the field from USA and Australia, along with support organisations such as NZORD.

Our Chief Executive Dr Collette Bromhead was the first speaker of the day and provided an overview of what NZORD does. She focused on the NZORD Rare Disease Day symposium and poster child campaign, our conference representation to ensure awareness raising of rare disease for GPs, nurses and researchers, PHARMAC quarterly meeting and ongoing communication to the Minister of Health. Collette highlighted the concerning issue of 50% of NZORD’s funding from the Government ceasing to exist by the end of June and that alternatives of funding may be the only way NZORD can remain as a resource for the rare disease community.

The plans of what NZORD intends to do if funding is secured were laid out and included:

- Greater coordination for support groups and patient get togethers
- Offering web tools such as video conferencing to facilitate small groups to get together
- Expanding our Specialists’ Database to allied health practitioners
- Continuing to drive the agenda with Government around equitable access to rare disease medicines, a rare disease register
- Facilitating and coordinating research and clinical trials using patient-driven databases
- Hosting a site for NZ researchers on NZORD website to enhance collaboration

The request for stories from the rare disease community was made to enable the collective voice to be heard through sharing real people’s challenges and triumphs. This ‘stories project’ can give the public and politicians insights into the real issues that are faced over and over again. The message that together we are strong has to mean speaking up and coming together to raise the voice of need for the rare community enough so that decision makers can hear!

Other highlights included:

Dr Barry Byrne from University of Florida Powell Gene Therapy Centrer gave an indepth talk about current research and insights for Pompe. This included brain involvement through accumulation of glycogen in the medulla which consequently causes damage to neurones making early treatment vital to long-term positive outcomes. Dr Byrne spoke of the use of biological ‘expensive’ therapies which utilise adeno virus vectors to transmit the corrected gene for the missing protein into affected people’s diaphragm cells  and how oestrogen appears to be protective to neurone loss.

The president of the Pompe Association in Australia Raymond Saich who lobbied federal government to place valuable medicines (Myozyme) on the Pharmaceutical benefits scheme. He was awarded a Medal of the Order of Australia in the Queen’s Birthday honours list for this work. Raymond explained how his pleasantly persistent campaign to the Australian federal government eventually led to a success for Pompe patients. He was able to locate champions within government who cared for this issue and create momentum with 136 minister letters, 30 articles in the media, print or on TV and two speeches made in parliament. He went to see members of parliament with a team of patients so that the clarity of how this disease affects the range of ages was understood and appreciated. Myozyme is available in 76 countries however in New Zealand this drug is not available to adult patients although it is funded for new-borns with infantile Pompe (currently there are no babies in NZ with this disease and no new-born screening). The complicating factor is that without screening for early diagnosis and subsequent treatment the outcome is gloomy for any clinically identified babies as by the time symptoms are identified and the system of diagnosis has run its course vital treatment time is lost.

Ronelle Baker, Chief Executive of Muscular Dystropy Association of New Zealand shared insights, information and made a plea for collaboration within all communities affected by rare diseases to connect and work together for better outcomes for all. MDANZ offer amazing support and research within the field of muscular dystrophy some of which are rare.

Dr Diane Webster, clinical scientist at LabPLUS at Auckland DHB spoke about new-born screening and the complexities of ethics when considering the addition of a new rare disorder to newborn screening. The process and policy framework of adding conditions to newborn screening was explained which involves a wide range of information being considering including looking at what other counties are doing. Questions include: Is there a better way to do this? Just because we can screen, do we? Does testing need to occur before symptoms develop or just once symptoms develop? Is there an effective treatment available that works? This process then follows a framework through a governance group (including a technical group) and national screening advisory committee to allow decisions based on overall health gains with the focus of getting more benefit than harm for the population. Pompe patients can fill out a new disorders form which will initiate this process and were encouraged to do so.

Dr Webster explained that screening can lead to positives when the person would not go on to get the full disease and this can cause avoidable mental distress. Other ethics relate to the right to know for the child and that when an identified family have a second baby genetic testing is not always done as it is not to the babies’ benefit. Other factors mentioned included mass screening versus diagnostic screening, and only offering screening for family studies with a known patient along with a focus on increasing clinical awareness for differential diagnosis rather than screening. This raises emotive issues as once symptoms develop the child has potentially already suffered irreversible damage and ERT or gene therapy benefits may be limited.