Status:
COMPLETED
Preliminary Study of Brain Effects of Palynziq-Related Changes in Phenylalanine in Individuals With PKU
Lead Sponsor:
University of Missouri-Columbia
Collaborating Sponsors:
BioMarin Pharmaceutical
Conditions:
Phenylketonurias
Eligibility:
All Genders
18-55 years
Brief Summary
The goal of the proposed study is to elucidate neurologic and neuropsychological improvements associated with Palynziq-related reduction in plasma Phe levels in individuals with PKU. To this end, inve...
Detailed Description
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 functioni...
Eligibility Criteria
Inclusion
- 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
- 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).
Key Trial Info
Start Date :
May 25 2022
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
July 1 2025
Estimated Enrollment :
6 Patients enrolled
Trial Details
Trial ID
NCT05356377
Start Date
May 25 2022
End Date
July 1 2025
Last Update
December 29 2025
Active Locations (2)
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1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
2
University of Missouri
Columbia, Missouri, United States, 65211