Treatment Advances

 

The MDDA works hard in advocating for life-changing treatment advancements for individuals living with an IEM. This webpage will help you stay up to date with new and improved treatments for you or your family member.

Treatment Advancements for PKU
Breaking News:

Sapropterin to be listed as a treatment for children and adolescents living with Phenylketonuria – PKU in Australia

After years of hard work and proactive campaigning led by MDDA with the support of PKUNSW and a number of key associated organisations and individuals – we are thrilled to advise of today’s positive outcome for the PBAC listing of sapropterin for children and adolescents with PKU in Australia. This is an amazing accomplishment (especially after an initial rejection way back in 2011), and we have much hope that is just the first step in the process of working towards gaining access to sapropterin for all ages.

Please find the full announcement and Sapropterin Factsheet below under resources and we will keep you informed once further information comes to hand on initial accessibility and testing.

As an association reliant primarily on the dedication of our hardworking volunteers, the entire PKU community of Australia should be forever grateful for the unwavering persistence and commitment of MDDA Vice President Louise Healy who‘s personal commitment and contribution to this project has gone way above and beyond. From the initial approach to Biomarin to convince them to submit through to ongoing communication, advocacy and education of key ministerial and PBAC decision makers. Collectively we have had a loud voice, but the true megaphone of this campaign has been Louise, so thank you from us all.

Communication from Metabolic Clinics

Please see below a communication from the Metabolic clinics regarding testing process for BH4 (sapropterin or Kuvan) responsiveness. For those who are not aware this a treatment that some PKU patients (around 30%) respond to that may help to reduce blood phenylalanine/increase tolerance to protein. Even people on lower allowances may respond.

Each clinic will approach the process slightly differently, but all based on published PBS guidelines. Please be in touch with us, or your clinic, if you have any concerns or questions.

“As of 1st May 2019, BH4 is now listed on the Pharmaceutical Benefits Scheme for children and young people under 18 years old with Phenylketonuria. To be eligible for prescription of this medication, the person with Phenylketonuria must meet certain criteria including a ≥30% reduction in Phenylalanine levels on a loading trial dose of BH4. Further information about the criteria can be found on the Pharmaceutical Benefits Scheme website.

Under the grandfathering scheme, any patients who have been commenced or trialled on therapeutic BH4 and shown an appropriate response under the age of 18 will be eligible for this medication in adulthood.

There has been much collaboration across metabolic services to develop a national guideline for trialling and introducing BH4 to patients with Phenylketonuria. This will be finalised now that Pharmaceutical Benefits Scheme criteria has been defined. The metabolic service you attend is making preparations to ensure an appropriate, safe, and fair method of both trialling and commencing this therapy over the coming months for patients under their care. Age will be one priority criteria to ensure that patients are trialled before the age of 18.

Prior to trailing BH4 and potentially commencing dietary liberalisation (if responsive), your metabolic team will require frequent dried blood spots and accurate and detailed dietary information. With continuing use of BH4, the Pharmaceutical Benefits Scheme states that patients must undertake regular dried blood spot monitoring, clinic attendance and engagement with their metabolic team and dietitian.”

Sapropterin Announcement

Sapropterin
Factsheet

Sapropterin BH4
Guidelines

PBAC Sapropterin
Recommendation
(page 12)

Treatment Advancements for TYRO

Life Saving Drugs Program Announcements for Tyrosinaemia Type 1 Patients

 

MDDA is pleased to see ongoing support for Tyrosinaemia Type 1 patients with new formulations of nitisinone on the Life Saving Drugs Program which was announced as part of the federal budgetTo receive advice on what is the most appropriate formulation for you, contact your treating physician.

In addition, the LSDP expert panel will be seeking input from MDDA and Tyrosinaemia patients and their families as part of an ongoing process to ensure LSDP responds to patients needs.

To find more information about the role of patients in review processes the government has created a factsheet (linked below). MDDA has already provided some input and will continue to do so.

This is great news for the community that the Life Saving Drugs program is supporting the needs of Tyrosinaemia Type 1 patients.

Federal Budget
Announcement

LSDP
Factsheet