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.

PKU

• Peer reviewed paper authored by Australian adult metabolic conditions on outcomes from a clinical trial with trial sites in Australia
• The National PKU Association (NPKUA) in America provides this summary of PKU research they are currently funding
• Clinicaltrials.gov – a site for approved (those with ethics approval) research trials lists 35 active PKU studies

 Organic Acidemias

• Clinicaltrials.gov – a site for approved (those with ethics approval) research trials lists 16 organic acidemia  studies
• Novel Gene-Correction-Based Therapeutic Modalities for Monogenic Liver Disorders

 Urea Cycle Disorders

• Clinicaltrials.gov – a site for approved (those with ethics approval) research trials lists 18 active urea cycle disorder studies

 Maple Syrup Urine Disorders

• Clinicaltrials.gov – a site for approved (those with ethics approval) research trials lists 5 MSUD studies

 Tyrosinaemia

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

• mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model
• In vivo lentiviral vector gene therapy to cure hereditary tyrosinemia type 1 and prevent development of precancerous and cancerous lesions
• Novel Gene-Correction-Based Therapeutic Modalities for Monogenic Liver Disorders

 Homocystinuria

• Clinicaltrials.gov – a site for approved (those with ethics approval) research trials lists 5 HCU studies

All correspondence to [email protected]