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Phenylketonuria (PKU) is a genetic disorder known to cause severe reduction in intelligence and deficits in cognitive function; it is associated with an elevated level of Phenylalanine (Phe) in blood.
Newborn screening and early treatment with restricted protein diet supplemented by a formula of amino-acids will preserve intelligence. In those with the severe form treated from birth, some deficits that affect higher functions of the brain are seen.
Given this, there is disagreement about how milder forms of this disease should be managed and what level of Phe is safe to be left untreated.
We seek to assess whether higher Phe levels, between 360 and 600µmol/L, are safe with respect to preservation of intelligence and higher cognitive functions.
Full description
The following personal/medical information will be collected and reviewed:
The following clinical investigations will be administered:
Measurement of Phe and Tyrosine after an overnight fast, via blood spot using tandem mass spectrometry analysis. Blood spot collection will be done at the same time of day for all subjects.
Physical exam, height and weight measurements
Food Frequency Questionnaire assessment to estimate typical daily intake of natural protein.
Self-Report Questionnaires:
Neuropsychological Tests assessed by a trained psychologist
An informant BRIEF-A report will be completed for each subject. To ensure consistency in rating, the same informant will be used where possible for the MHP subject and their sibling control (i.e. parents). These questionnaires will be mailed to the informants and returned to the study site via FedEx.
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Subjects who do not have an unaffected sibling may still participate.
10 participants in 2 patient groups
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Data sourced from clinicaltrials.gov
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