Phenylketonuria Clinical Trial
Official title:
Neuropsychological and Quality of Life Outcomes in Untreated Adults With Mild Hyperphenylalaninemia (MHP)/Phenylketonuria (PKU) With Phenylalanine Levels Between 360 and 600 µmol/L Caused by Phenylalanine Hydroxylase (PAH) Deficiency.
Verified date | February 2016 |
Source | The Hospital for Sick Children |
Contact | n/a |
Is FDA regulated | No |
Health authority | Canada: Ethics Review Committee |
Study type | Observational |
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.
Status | Completed |
Enrollment | 10 |
Est. completion date | February 2016 |
Est. primary completion date | February 2016 |
Accepts healthy volunteers | No |
Gender | Both |
Age group | 18 Years and older |
Eligibility |
Inclusion Criteria: - Male or Female, = 18 years - Confirmed to have MHP with at least two Phe levels during lifetime of above 360µmol/L and below 600µmol/L, including newborn screening levels (available since 1968 by either bacterial inhibition, enzymatic or tandem mass spectrometry methodology) and via mutation analysis. Those with occasional levels above 600µmol/L will not be excluded provided the majority of available levels fall within the 360-600µmol/L range. - On an unrestricted diet and not taking medical food. Women who were on dietary or Kuvan® treatment for past pre-conception or pregnancy management will not be excluded - Willing and able to give consent and comply with study procedures. Exclusion Criteria: - Subjects on dietary or Kuvan® treatment within the last 12 weeks will be excluded. - Co-morbidities that may interfere with study participation and/or put the subject at a higher risk of adverse effects. Subjects who do not have an unaffected sibling may still participate. |
Observational Model: Case Control, Time Perspective: Cross-Sectional
Country | Name | City | State |
---|---|---|---|
Canada | The Hospital for Sick Children | Toronto | Ontario |
Lead Sponsor | Collaborator |
---|---|
The Hospital for Sick Children | BioMarin Pharmaceutical |
Canada,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Other | IQ | As measured by Wechsler-IV | Day 1 | No |
Primary | Executive function | As measured by subtests in Weschler-IV test, and supplemented with assessments from BRIEF-A and CANTAB(computerised cognitive tests by Cambridge Cognition). | Day 1 | No |
Secondary | Quality of Life | Day 1 | No | |
Secondary | Presence of anxiety and depression | As measured by Beck Anxiety and Depression Inventories | Day 1 | Yes |
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