Recruiting PKU Studies
Thank you for your interest in learning about ongoing PKU studies!
To support PKU research, NPKUA helps to connect community members who are interested in participating in research with active PKU studies through the PKU Patient Registry. Featured studies need to undergo a rigorous approval process before sharing with the PKU community. If you would like to receive email notifications for recruiting studies, you can do so through the PKU Patient Registry. If you have any questions, please email registry@npkua.org.
Please see the list of approved PKU studies that are actively recruiting:
The Impact of Phenylalanine Elevations on Metabolic, Cognitive, and Neural Functioning in Adults Heterozygous for Phenylketonuria (PKU)
Study Contact(s)
Eligibility Criteria
- Adults (ages 18-60 years old) who are carriers of the PKU gene (for example, a parent of someone with PKU)
A Mixed Methods Approach to Patient and Caregiver Experience with Reproductive Healthcare for PKU
Study Contact(s)
Eligibility Criteria
- Female with a diagnosis of PKU, aged 18 years or older
- Caregiver to a female with PKU aged 18 years or older
Take the study survey here: https://redcap.link/PKUSRH
Making the invisible, visible: creating a PKU-specific patient reported outcome and experience measure, the PKU-PROEM
Study Contact(s)
Eligibility Criteria
- Teenagers with PKU (12 – 17 years old)
- Adults with PKU 18+
- Caregivers of children with PKU (<12 years old)
Smarter Nutrition Assessment with Photography (SNAP)
Study Contact(s)
Eligibility Criteria
- Individual with PKU aged 16 years or older
- Must be weight stable for at least a month
- Must own personal smartphone and be willing to download OHSU food photography app
- Must be able to read & write in English
- Cannot be pregnant or lactating
- Cannot be an elite athlete or training at elite level
- Cannot participate in another research study that requires a specific diet at the same time.
GeneTIC Patient Perspectives Study
Study Contact(s)
Eligibility Criteria
- Caregivers and parents of kids with PKU who are under 18 years old
- Must be fluent in English
- Must live in the United States
Take the survey here: https://redcap.link/genesurvey
Expectations and Experiences: Exploring Preconception and Pregnancy Related Support Needs of PKU Patients
Study Contact(s)
Eligibility Criteria
- Have a diagnosis of PKU, including hyperphenylalanemia, moderate PKU, classic PKU, or other
- Assigned signed female at birth
- Have had a previous pregnancy resulting in a live birth OR have not had a previous pregnancy resulting in live birth, but you are considering a future pregnancy
- Are between 18 years of age and 45 years of age
- Can read and understand English
Take study survey here: