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Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study

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Trial Status Completed

Trial Identifier

NCT01924026

Condition

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.

Trial Summary

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.

Eligibility Criteria

Birth Sex

All

Age

From 18 Years

Healthy Volunteers

No

Study Type:

Observational

Number of Participants:

10

Study Started:

2013-09

Study Updated:

2016-02-17

Trial Locations

  • The Hospital for Sick Children

    Toronto, Ontario, Canada

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

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