Preliminary Study of Brain Effects of Palynziq-Related Changes in Phenylalanine in Individuals With PKU

Launched by UNIVERSITY OF MISSOURI-COLUMBIA · Apr 27, 2022

Keywords

ClinConnect Summary

Past studies have documented PKU-related disruptions in brain phenylalanine (Phe) levels, white matter (WM) and gray matter (GM) brain structures, functional connectivity, and neurocognitive functioning. Additional research suggests that the disruptive effects of excessive blood Phe levels likely contribute to these abnormalities, and treatment aimed at lower Phe levels may lead to significant improvements.

Within this context, the primary aim is to test the hypotheses that Palynziq-related reductions in blood Phe levels will be associated with:

1. A decrease in brain Phe levels as measur...

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Age 18-55 years
• • Participants identified by newborn screening with PKU as evidenced by a blood Phe level ≥ 360μmol/L; received treatment within the first 30 days of life
• • Previously received a neuropsychological and neuroimaging evaluation (as part of previously described MU or BCH studies) prior to enrollment in the present study (while Palynziq-naïve).
• • Capable of providing informed consent
• • Presently being treated with Palynziq and has demonstrated a prolonged Phe response to Palynziq (as reflected by at least 3 consecutive months of Phe levels below 360 μmol/L)
• Exclusion Criteria:
• • History of major neurologic disorder unrelated to PKU
• • Contraindications for safe MRI participation such as (a) pregnancy or plans to become pregnant during period of study enrollment; or (b) metallic objects inside the body (e.g., surgical staples left in the body following surgery, middle ear prosthesis, metal foreign objects lodged inside the eye, heart pacemakers).
• • Current participation in an interventional clinical trial (not Palynziq-related).