Research, Trials & Treatment Advancements

Stay up to date with everything that is happening with the Research, Trials & Treatment Advancements space.

As people living with rare inborn errors of protein metabolism, we are aware of the gaps in treatment and evidence for our conditions.  The good news is that there continues to be research into treatment pipelines for a range of IEMs.

If you have any questions about trials and/or research please contact the MDDA Patient Pathways tele-health nurse.

Research Roundup

Below is not a comprehensive list of research but does give an insight into areas of research focus. Some of these studies may have published results. Scientific journals that have a peer review process are the best source for independent and credible information about clinical research.

(Last updated September 2022)



Pioneering a Pathway to Curing Metabolic Disorders for Children

Dr Nafisinia and his team are pioneering a radically new way of understanding each disorder and how it might be treated – using variety of expertise at the Storr Liver Centre. Interested to learn more about the research being done by Michael and his WIMR team? If any families who are in Sydney or visiting Sydney would like to visit WIMR, Michael and his team are very happy to welcome you. Please contact [email protected] for information.


Clinical Trial – PKU study drug – CDX-6114 for ages 18 to 65

See information sheet about this trial below. If you or your doctor believe that you may be eligible/suitable for this trial contact the recruitment team or register online. (Contact details are on page 2 of attached information).

Call the MDDA Patient Pathways Telehealth Nurse for further education & support in considering participation in a clinical trial.

To contact call 03 9723 0700 or email at [email protected]. The Patient Pathways telehealth nurse can call you back at a scheduled time if you prefer.

Treatment Advancements

MDDA continues to advocate for access to all available treatments for all people with an IEM.

Stay tuned for up to date news on treatments for you or your family member.

Previous Treatment Advancement Announcements

Sapropterin for Children