PKU Studies and Research Opportunities
This page gathers research opportunities related to PKU. Studies are grouped first by where they are recruiting, then by study type, so families can more easily find what may be most relevant to them.
Recruiting in Canada
Medical treatments and interventional studies
Therapy: JNT-517 (repinatrabit)
Sponsor: Otsuka Pharmaceutical Development and Commercialization, Inc.
Status: Recruiting
Study type: Interventional, Phase 3
This Phase 3 study is evaluating JNT-517 in adults with PKU. CanPKU+ has independently verified recruitment at the M.A.G.I.C. Clinic in Calgary, even though the Canadian site was not yet reflected on the official record at the time of review.
Observational studies
Therapy: Palynziq (pegvaliase)
Sponsor: BioMarin Pharmaceutical Inc.
Status: Recruiting
Study type: Observational, Phase 4
This observational study is evaluating maternal, fetal, and infant outcomes following pegvaliase exposure during pregnancy and breastfeeding. A Calgary recruiting site is listed on the sponsor study page.
Surveys and community input
Add survey and community input opportunities here as they arise.
Recruiting in North America
No studies currently updated. Want information on one? Reach out to website@canpku.org
These studies are not recruiting in Canada
Recruiting Worldwide
Status: Recruiting worldwide
Disorder: PKU (PAH deficiency)
Type: Gene therapy trial
NCT ID: NCT06061614
This early-phase study is evaluating NGGT002 gene therapy for people with phenylketonuria (PKU). The therapy aims to deliver a functional PAH gene to liver cells to restore the body's ability to break down phenylalanine.
View study details on ClinicalTrials.govCompleted and past opportunities
Completed and past studies can still be useful for understanding the history of a therapy, a research question, or a broader treatment program.
Status: Completed / extension cohorts may continue
Disorder: PKU
Type: Phase 3 interventional trial
NCT ID: NCT05099640
This Phase 3 trial evaluated PTC923 (sepiapterin), a therapy designed to increase activity of the PAH enzyme and lower blood phenylalanine levels in individuals with PKU.
View study details on ClinicalTrials.goLooking for a registry?
Registries help collect long-term information and strengthen future research. If you are looking for the PKU registry, visit the dedicated registry page below.
Go to Registry Page