Posted October 2022

Patient-Centered Research Opportunity Aims to Personalize and Optimize Diet Treatment for Adults with Classical PKU

We are reaching out to inform you of a study being conducted by Dr. Shoji Yano, a clinical geneticist, and Kathryn Moseley, metabolic dietitian. The NPKUA is sponsoring the University of Southern California (USC) Keck School of Medicine in this research trial through our Research Grant Program because it meets the organization’s mission to improve the lives of adults with PKU.

This patient-partnered clinical trial is part of Dr. Yano and Kathryn Moseley’s ongoing research program with a broader goal to develop the long anticipated custom-tailored PKU diet treatment—to personalize and optimize the diet for adults.

The study aims to identify individual adults who may benefit clinically from addition of a large neutral amino acid (LNAA)-enriched medical food to their current diet plan. A body of evidence supports that additional dietary LNAAs block Phe uptake from blood to brain and improve neuropsychological function and quality of life in adult patients. Blood Phe concentrations, LNAA doses, and patient types most responsive to potential benefits of the dietary intervention are uncertain. This trial aims to clarify some of these unknowns.   

All study procedures are done from participants’ homes. A placebo-control randomized clinical trial N-of-1 research design provides all  participants with an individualized evidence-based evaluation of how well their current diet and blood levels are working for them, and whether the additional medical food may be more beneficial for them personally. Identifiable data will not be accessible to anyone until after the trial. At that time, only the participants, researchers, and the Institutional Review Board at USC will have access. Patients will be the first to receive their results when their study is completed, and they will choose whether they want to share the findings with their clinical teams.

The researchers plan to enroll 6 adults with classical PKU by December 15 with a January trial start date. Dietitians who are interested in the study for their adult patients with classical PKU, living in the U.S. with blood levels no higher than 900 µmol/L, are strongly encouraged to contact the Kathryn Moseley, M.S., R.D., Study Coordinator  kmoseley@usc.edu.

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Posted October 2022

Please help recruit participants in MMA and PA natural history study

Real-world natural history data are needed to better understand methylmalonic and propionic acidemia as potential new treatments are being developed.

JUMP (Journey to Understand MMA and PA) is a natural history study being conducted with rare disease online research platform AllStripes to accelerate the understanding of MMA and PA for all stakeholders – families, academia, clinicians, and industry.  JUMP is sponsored by HemoShear Therapeutics.

This short video from Kim Chapman explains the advantages of JUMP. 

Patients Participate From Home

It takes about 15-20 minutes for patients and caregivers to sign up for a private account authorizing AllStripes to retrieve and process medical records on their behalf at no cost to the patient.  Patients can access their records from their secure account.  With consent, AllStripes uses de-identified patient data to generate disease insights.

Please Contact Your Families About JUMP

Here Dr. Chapman explains who can sign up for JUMP and how you can help to enroll participants. 

Please contact your families with MMA and PA (up to 18 years of age) about joining JUMP.

You can download central IRB-approved flyers and a Q&A for you to share with families here:  https://hemoshear.com/jump

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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 ClinicalTrials.gov. https://clinicaltrials.gov/ct2/show/NCT05270837

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

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

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

Posted February 2022:

Links:  To learn more about the study or refer patients, please see clinicaltrials.gov (NCT04732429) to contact the nearest study site. For families that want to learn more, the HERO website - mma-pahero.com - provides patient-friendly information For questions, please contact Chief Medical Officer Patrick Horn, MD, PhD at horn@hemoshear.com

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 ClinicalTrials.gov: https://www.clinicaltrials.gov/ct2/show/NCT04442347?term=Arcturus&draw=2&rank=3 If you have questions or need help contacting one of the participating academic sites, please contact Manely Yafeh at manely@arcturusrx.com David Geller, M.D. davidg@arcturusrx.com Vice President Pulmonary & Rare Diseases Arcturus Therapeutics

Posted May 2020:

Updated list of clinical trials