Overview

Neuroimaging and Neurocognitive Assessment and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria

Status:
Withdrawn

Trial end date:
2012-12-01

Target enrollment:
0

Participant gender:
All

Summary

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).

Phase:

N/A

Accepts Healthy Volunteers?

Details

Lead Sponsor:

Children's National Research Institute
Children's Research Institute

Collaborator:

Georgetown University

Treatments:

Verapamil

Criteria

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