Saves the questions and what to expect into your notes, next to the visit they belong to.
Keep this study
Lead
Boston Children's Hospital
With
Beth Israel Deaconess Medical Center
Brigham and Women's Hospital
Age
18–55
Sex
ALL
Healthy volunteers
Not accepted
You may be eligible if
1. Adult with classic PKU who has been seen at one of the hospitals collaborating in this study
2. Age 18-55 years
3. Medical Records available that include genotype and blood phenylalanine levels during the first 6 years of life. (We have over 300 patients with PKU with genotypes in our clinic, of whom about half are adults.)
4. Capable of providing informed consent
5. Able to undergo MRI procedures without sedating medication
6. Does not have metal implants
7. Not currently on Kuvan, Large Neutral Amino Acid therapy or involved in any clinical trials.
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You may not be if
1. Mild PKU or mild hyperphenylalaninemia
2. Less than 18 years old or great than 55 years old
3. No medical records available for the first 6 years of life
4. No record of genotype
5. Not capable of providing informed consent
6. Not able to undergo MRI without sedating medication
7. Has metal implants
8. Currently taking Kuvan, Large Neutral Amino Acid therapy or involved in any clinical trial