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Research Announcements

Posted August 2022

Study to evaluate the safety and efficacy of Pegvaliase in Adolescents (ages 12-17) with Phenylketonuria (PEGASUS)

PEGASUS study (165-306): PEGvaliase: A Study of Use in adoleScents. This Phase 3 multicenter study is designed to evaluate the safety and efficacy of pegvaliase administered daily to adolescents (ages 12 to 17 years old (US), and 12 to 15 years old (EU)) with phenylketonuria (PKU). This clinical trial for adolescents with PKU is now enrolling patients and for more information on the study inclusion/exclusion criteria as well as contact information for activated sites visit the study page on

If you have questions or wish to refer patients contact the nearest study site, details listed on

Posted on behalf of BioMarin by: Bridget Wardley MS,RD, Director PKU MSL team (North America), BioMarin Pharmaceutical Inc. Email:


Click on image below to download a copy of the patient brochure for this study.


Posted February 2022:


To learn more about the study or refer patients, please see (NCT04732429) to contact the nearest study site.

For families that want to learn more, the HERO website - - provides patient-friendly information For questions, please contact Chief Medical Officer Patrick Horn, MD, PhD at


Arcturus is seeking participants ≥ 18 years of age with stable OTCD to take part in an ongoing clinical safety study of ARCT-810

Arcturus Therapeutics is developing a messenger RNA (mRNA) therapy for ornithine transcarbamylase deficiency (OTCD). Using mRNA is a new and fundamentally different approach to disease management than the use of traditional ammonia chelators and diet. The investigational ARCT-810 therapy contains mRNA with instructions to make fully functional OTC in the liver, thus addressing the root cause of OTCD with the potential to correct the urea cycle defect. mRNA technology uses lipid nanoparticles (LNPs) to protect the mRNA from degradation in the blood as it is distributed to the liver. The LNPs are designed to be taken up by hepatocytes and once inside the cell, they release the mRNA which can be translated to the OTC enzyme by the cells’ natural processes. Delivery of human OTC mRNA may help normalize ammonia and the other biochemical markers of ureagenesis.

This is an early Phase Ib single-dose study designed to assess the safety, tolerability and pharmacokinetics (metabolism and clearance) of ARCT-810. As such, participants who enroll must be adults with mild, stable OTC disease and good cognitive function. This may include women with only one OTCD gene (heterozygous). The information obtained from this study may allow the progression of ARCT-810 into studies of younger and sicker patients with OTCD. ARCT-810 is not a gene therapy, i.e., there is no alteration of the recipient’s genes and there are no viral components.

For more information about the Phase Ib clinical trial of ARCT-810 visit the study page on

If you have questions or need help contacting one of the participating academic sites, please contact Manely Yafeh at

David Geller, M.D. Vice President Pulmonary & Rare Diseases Arcturus Therapeutics     


Posted May 2020:

Updated list of clinical trials



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