PKU -

Two Research Opportunities to Help Improve PKU 
You can participate at home and be compensated for your time and effort. 

New Online Research: Cognitive and Emotional Health in PKU

Dr. Shawn Christ and colleagues at the University of Missouri are currently seeking participants for multiple new research projects aimed at developing better tools for assessing cognitive and psychological health outcomes in individuals with PKU. One such project involves the use of a customized cell phone-based app to assess in-the-moment symptoms of potential psychological distress. Another project is aimed at developing a new tool for better capturing day-to-day neurocognitive symptoms of elevated Phe. Both studies can be done remotely (no need to come in person), are open to adults (18 years & older) with phenylketonuria (PKU) from Canada or the U.S., and provide monetary compensation for participation. For more information or to volunteer to participate, please contact Tess Fogelberg (573-884-8109; CNLab@missouri.edu).

For a PDF of the below image click here

Participate in Registries

Why participate in registries?

For patients and patient advocacy organizations, a registry may increase understanding of natural hisoty of a disease, contribute to the development of treatmnet guidelines or faciliate research on treatments..

Link  to medical journals on the topic:

https://www.ncbi.nlm.nih.gov/books/NBK493820/

Participate in Research

Enter your information into the HCU Data Collection program designed to capture a global perspective on HCU and allow for a place for researchers to come to get data to do further research. Check it out! https://homocystinuria.rare-x.org/

2024 - Synlogic Provides Corporate Update and Outlook for 2024

2023 - Sept  Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG)

2023 - SSIEM POSTER - Understanding the Burden of Classical Homocystinuria (HCU) From the Patient’s Perspective: A Qualitative Study

2022 - Global Genes produced the  Rare Research Road Map. It does not mention health technology assessment (CADTH/INESSS in Canada) but it is useful for drug development process

2022 - An article on Dr. Charles Scriver

2022 - PHEFREE - Consortium spotlight: Advancing discoveries in Phenylalanine Disorders

2022 - Early Stage investigator Spotlight: Stephanie sacharow helps patients with phenylketonuria overcome barriers to treatment.

2021 - Dietetic Management of Adults with Phenylketonuria (PKU) in the UK: A Care Consensus Document

2021 - Synlogic Announces Initiation of Phase 1 Study of SYNB1934, a Next-Generation Strain for the Treatment of Phenylketonuria (PKU)