Phenylketonurias Clinical Trial
Official title:
A Preliminary Study of the Neurological and Neuropsychological Effects of Palynziq-Related Changes in Phenylalanine in Individuals With Phenylketonuria (PKU)
Verified date | August 2023 |
Source | University of Missouri-Columbia |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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, investigators will utilize state-of-the-art neuropsychological and multi-modal neuroimaging methods to examine the effects of large Phe level reduction (levels <360 μmol/L for at least 3 consecutive months) on GM and WM brain structures, brain concentrations of Phe, functionality of brain networks, and associated cognitive functioning in a sample of individuals with PKU who are being treated with Palyzniq.
Status | Enrolling by invitation |
Enrollment | 13 |
Est. completion date | April 30, 2024 |
Est. primary completion date | April 30, 2024 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 18 Years to 55 Years |
Eligibility | 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). |
Country | Name | City | State |
---|---|---|---|
United States | Boston Children's Hospital | Boston | Massachusetts |
United States | University of Missouri | Columbia | Missouri |
Lead Sponsor | Collaborator |
---|---|
University of Missouri-Columbia | BioMarin Pharmaceutical |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Neurologic Integrity | Brain phenylalanine (Phe) levels, white matter integrity, gray matter integrity, functional connectivity as measured using magnetic resonance imaging (MRI) | Single timepoint for 1 hour | |
Primary | Neuropsychological Functioning | Neuropsychological functioning as assessed using a comprehensive battery of standardized neuropsychological tests | Single timepoint for 2 hours | |
Secondary | Cookie Theft Picture Test | Verbal linguistics as assessed using the Cookie Theft Picture Test from the Boston Diagnostic Aphasia Exam | Single timepoint for 10 minutes | |
Secondary | In-the-moment Psychoemotional Symptomatology | Cell phone-based ecological momentary assessment (EMA) to measure in-the-moment psychoemotional symptomatology | 30 minutes total per day for 7 consecutive days |
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