Metabolic Dietary Disorders Association | Non-profit organisation

Metabolic Dietary Disorders Association

Phone: +61 3 9723 0600

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25.01.2022 Bringing Together the Global PKU Patient CommunityWe are excited to welcome PTC Therapies to the 2021 Global PKU Patient Conference. Read more of their involvement here - https://www.ptcbio.com/2021/09/08/bringing-together-the-global-pku-patient-community/ where they talk with Monique Cooper, Conference Chairwoman, President of the Metabolic Dietary Disorders Association and co-founding GAP Trustee.

23.01.2022 Register for FREE for the Global PKU Patient Conference at https://gener8.eventsair.com/gpkuc21/

23.01.2022 PBAC Kuvan Deferral for maternal women with PKU The Metabolic Dietary Disorders Association recognises the decision by the Pharmaceutical Benefits Advisory Committee (PBAC) to defer the listing of Kuvan (sapropterin hydrochloride) on the Pharmaceutical Benefits Scheme (PBS) for maternal women living with phenylketonuria (PKU). We understand that the PKU community may feel disappointed by this decision, however, the deferral means the PBAC recognises the benefit of Kuvan for m...aternal PKU patients and remains open to listing the treatment on the PBS. The deferral also ensures the PBAC can now work with the sponsor company (BioMarin) to seek further evidence and determine the best pathway forward to make Kuvan available for maternal PKU women. MDDA, with the support of our PKU community, has been actively campaigning for a number of years to secure access to this treatment for all Australians with PKU who are responsive to Kuvan. Although the outcome has not been a straightforward recommendation, MDDA remain hopeful to secure subsidised access to Kuvan through the PBS for PKU women who are planning a pregnancy. We intend to continue to campaign for access to all safe and approved treatments for all Australians living with PKU. MDDA plan to investigate next steps of access to a generic option and other therapies currently available overseas. We want to thank everyone who submitted a consumer comment to the PBAC about how important it is for PKU maternal women and our wider PKU community to get access to this treatment on the PBS. Information regarding the PBAC outcome and brief summary can be found https://bit.ly/2Wt1oPe. MDDA will provide updates as they become available. Any questions can be emailed to [email protected].

18.01.2022 The whole MDDA and IEM community is devastated by the loss of our much admired MDDA member, mother and cherished friend Koby along with her beautiful children Chloe and Harrison. Koby was a very active member of our IEM community always supporting others and playing an important role in advocating for the needs of patients living with Tyrosinaemia a rare metabolic disorder that her two surviving boys Lachy and Liam live with. The challenges ahead for Koby’s partner/the boys... father, Craig, are immense and we hope to see as many funds as possible raised in order to directly support Craig and the boys during this most difficult time for them. All our condolences and love from the MDDA xo Click here to donate - https://www.gofundme.com/f/in-loving-memory-of-koby-chloe-a

16.01.2022 This week 17-23 May 2021 is National Volunteer Week. It’s a chance to say THANK YOU to our amazing volunteers and celebrate their wonderful contribution to the MDDA and the wider IEM community. At the MDDA we would like to give a HUGE thank you to our Voluntary Executive Committee Team, Monique Cooper Louise Healy Bianca Albanese Paige Moore. They drive every program, initiative, lead our advocacy campaigns and oversee the governance of our association whilst managing their ...own families, businesses, employment and studies. Please join us in thanking and recognising their amazing efforts! Thank you to each of you who are dedicated to support, contribute and drive awareness of the MDDA and our members to the greater community. We cant do it without you! To find out more about how you can volunteer please visit our website at https://www.mdda.org.au/help/volunteer/. If you’d like to get involved please email [email protected] See more

15.01.2022 The health and wellbeing of the IEM community is our absolute priority and we are continuing to monitor the most up to date information on Coronavirus (COVID-19). We have had many questions regarding how this virus may affect those living with an Inborn Error of Metabolism, particularly with issues in obtaining food and medical supplies. MDDA is committed to keeping our community informed on accurate information and have created an Advice Resource on our website that we will continue to update as new information arises, found here https://www.mdda.org.au/coronavirus-advice/. If you have specific queries or concerns about your condition please contact your metabolic clinic team to discuss. If you have any general questions or queries please contact the MDDA office at [email protected] or 03 9723 0600.

15.01.2022 MDDA today joins Rare Disease groups across the globe in acknowledging Rare Disease Day! So what is Rare Disease Day? Rare Disease Day takes place on the last of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. Rare Disease Day aims to build awareness and improve the publics knowledge about rare diseases while encouraging researchers and dec...ision makers to address the needs of those living with rare diseases. If you would like to find out more about Rare Disease Day click here - https://www.rarediseaseday.org/

12.01.2022 MDDA recognise the importance of clinical trials as we continue our advocacy for effective treatments and a potential cure for all those living with Inborn Errors of Metabolism. Thank you to all the clinicians, researchers and scientists in Australia and overseas working on clinical trials giving us hope for the future.

04.01.2022 Breaking news - Kuvan recommended by PBAC for treatment for maternal women living with Phenylketonuria (PKU) in Australia The Metabolic Dietary Disorders Association is extremely pleased with the decision of the Pharmaceutical Benefits Advisory Committee (PBAC) to recommend the listing of Kuvan (sapropterin dihydrochloride) on the Pharmaceutical Benefits Scheme (PBS) for maternal women living with phenylketonuria (PKU). The PBAC noted there is a high clinical need in a smal...l patient population, and acknowledged the input received from individuals, organisations and health professionals in relation to the November 2020 submission. Further, the PBAC noted the strong consumer feedback describing the very high clinical need for access to sapropterin for any adult with PKU. The PBAC would welcome a major resubmission for this broader population MDDA, with the support of our PKU community, has been actively campaigning for a number of years to secure access to this treatment for all PKU people who are responsive to this therapy. This welcome result has been the outcome of extensive ongoing political, media and public advocacy by our PKU and broader metabolic dietary disorders communities. Whilst the outcome is a positive one for maternal women, we are pleased that the PBAC have noted the high clinical need for access to all adults with PKU. We intend to continue to campaign for access to all safe and approved treatments. We want to thank everyone who submitted a consumer comment to the PBAC about how important it is for PKU maternal women and our wider PKU community to get access to this treatment on the PBS. Information regarding the PBAC outcome and brief summary can be found here. There are still several processes to complete before Kuvan is available for those planning a pregnancy via your clinic. Once these processes are completed those with PKU who are planning a pregnancy should discuss responsiveness testing and other processes with their specialist metabolic clinic. MDDA will provide updates as they become available.

01.01.2022 Click here to register - https://gener8.eventsair.com/gpkuc21

30.12.2021 MDDA is proud to be the host and organiser of this virtual event which will be the first of it's kind, on behalf of GAP! Don't miss out on what's going to be a fantastic and informative international event! Register below.

16.12.2021 Australian PKU Patient Quality of Life Survey The MDDA is conducting a survey of PKU adults and PKU families in Australia to better understand the current chall...enges and hopes for the future of our community. The information you provide will contribute to important decisions being made for the PKU Australian community. We plan to use the results of this survey to help inform research priorities, discussions with government decision makers and advocating for access to clinical trials, treatments and research funding. The survey should take about 15 minutes to complete and will remain open until 25th July. Thank you so much for your input as we look to understand better, what is most important from a patient and family perspective. Click here to complete the survey - https://www.surveymonkey.com/r/8R2DBRS If you have any questions please contact: Joanne Campbell (Patient Pathways Care Coordinator) at [email protected].

17.11.2021 Today was both International PKU Day and International Newborn Screening Day. It seems so appropriate to celebrate these days on the birthday of Robert Guthrie who developed the first Newborn bloodspot screening test for PKU. Screening for PKU is now nearly 60 years old and we are so fortunate and grateful for the life changing difference it has made in the lives of our PKU families and since then also other IEM families that are now also screened. Nearly 65% of babies born i...n the world still do not have access to screening and therefore to treatment. A great reminder that there is much to be grateful for but plenty of work still to be done to give all newborns the same opportunity. Below is a video MDDA created on behalf of the individuals lives who have been changed forever due to this testing, in celebration of the 50 years of Newborn screening in 2016. https://www.youtube.com/watch?v=YJGqWQF7qQU&t=7s See more