Research Roundup

Research Roundup

(As of September 2022)

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.

This 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.

If there is a trial or research program you would like to hear more about at future events or to investigate the possibility of a trial site in Australia please contact the advocacy team at MDDA.


 Organic Acidemias

 Urea Cycle Disorders

 Maple Syrup Urine Disorders


There are no clinical treatments trials currently listed for Tyrosinemia but there are several papers on potential treatments in early stages of development:


All correspondence to [email protected]