PKU Clinical Trial
— PKUOfficial title:
Multimodal Neuroimaging and Neurocognitive Assessment of Biomarkers and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria
Verified date | December 2014 |
Source | Children's Research Institute |
Contact | n/a |
Is FDA regulated | No |
Health authority | United States: Institutional Review Board |
Study type | Interventional |
The investigators will use different types of brain imaging (MRI) in patients with Phenylketonuria (PKU) who are currently not on a strict diet to test the hypothesis that there is improvement in brain circuitry and biochemistry after return to diet and/or sapropterin dihydrochloride (Kuvan).
Status | Withdrawn |
Enrollment | 0 |
Est. completion date | December 2012 |
Est. primary completion date | March 2012 |
Accepts healthy volunteers | No |
Gender | Both |
Age group | 18 Years to 40 Years |
Eligibility |
Inclusion Criteria: 1. Patients with PKU identified on Newborn screening and with phe concentration >12mg/dl on the newborn screen 2. Baseline phe level at study enrollment > 20 mg/dl (this is the level required for inclusion in the study, regardless of the level used to make diagnosis) 3. Age range: 18-45 years 4. Able to comply with neuroimaging without requiring sedation (typically requires IQ over 65). The IQ will be checked with the WASI (Weschler Adult scales of intelligence) before determining eligibility 5. Able to undergo neuroimaging safely (i.e. without presence of ferromagnetic devices) 6. Subject has ability to follow instructions in English 7. Female of childbearing age who is sexually active agrees to urine pregnancy test 8. Availability to come to Washington, DC to participate in this study Exclusion Criteria: 1. Age range <18 or >45 years 2. Inability to comply with neuroimaging without the use of sedation (low IQ or claustrophobic) 3. Presence of ferromagnetic device(s) that preclude safe imaging including cardiac pacemaker, neural pacemaker, surgical clips in the brain or blood vessels, surgically implanted metal plates, screws or pins, cochlear implants or metal objects in their body 4. Pregnant female or breastfeeding at screening or planning to become pregnant at any time during the study. 5. Baseline phe < 20 mg/dl 6. Currently on Kuvan 7. History of substance abuse |
Allocation: Randomized, Intervention Model: Parallel Assignment, Masking: Open Label, Primary Purpose: Diagnostic
Country | Name | City | State |
---|---|---|---|
United States | Children's Research Institute | Washington | District of Columbia |
Lead Sponsor | Collaborator |
---|---|
Children's Research Institute | Georgetown University |
United States,
Christ SE, Moffitt AJ, Peck D. Disruption of prefrontal function and connectivity in individuals with phenylketonuria. Mol Genet Metab. 2010;99 Suppl 1:S33-40. doi: 10.1016/j.ymgme.2009.09.014. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Neuroimaging biomarkers | An estimate of the change in white matter damage and biochemistry in participants with PKU after either diet/Kuvan | at 4 months | No |
Secondary | Brain biochemistry | Assessment of cognitive systems abnormalities (by fMRI ) in the participant cohort after diet/Kuvan | at 4 months | No |
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