NCT01924026
Phenylketonuria, Mild Hyperphenylalaninemia
The below information is taken directly from public registry websites such as ClinicalTrials.gov, EuClinicalTrials.eu, ISRCTN.com, etc. and has not been edited.
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.
All
From 18 Years
No
Observational
10
2013-09
2016-02-17
Toronto, Ontario, Canada
Subjects who do not have an unaffected sibling may still participate
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