Canadian PKU Patient Registry

Click here to go to the patient registry section and learn more about the metabolic registry project.

Core Outcome Set

The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) developed a core outcome set (COS) for PKU in children/youth aged 12 years or younger. This project followed recommendations by the Core Outcome Measures in Effectiveness Trials (COMET) Initiative. The final COS is presented below.

The COS and several related articles have been published. See below for open access links:

• Final COS: click this link

• A literature review informing the development of the COS: click this link

• Patient engagement in the COS development: click this link

PKU trial: comparison of medical formulas

INFORM PKU is developing a clinical trial to compare medical formulas in children and youth with PKU. The primary purpose is to determine whether children and youth with PKU can use Glycomacropeptide-based medical formula as an alternative to amino acid-based medical formula without significantly reducing the amount of natural protein they can tolerate. Natural protein tolerance is defined as the amount of natural protein that can be consumed, in addition to the protein equivalent from medical food, while maintaining metabolic control.

This trial will require children and youth who participate to make changes to their diet, which may be challenging. Therefore, before designing the trial, INFORM PKU is conducting a feasibility survey to learn more about the diet and daily routine of children and youth with PKU who receive care in Canada, and to understand whether they and their families would be interested in participating in such a trial.