Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia

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Trial Status Completed

Trial Identifier

NCT01869972

Condition

Phenylketonuria, 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 rare disease where the level of phenylalanine (one of the amino acids) in the body is greatly increased. High levels can cause brain damage, especially in babies and children. This brain damage can be prevented if a special low phenylalanine diet is started soon after birth. A new drug, sapropterin, can also lower phenylalanine levels in some patients. PKU therapy is monitored by measuring the blood phenylalanine every week, with the goal to keep the level within a target range. Recently, studies have suggested that the variation in the blood phenylalanine may be just as important as the absolute blood phenylalanine level for brain outcome.

The investigators will look at the variation in blood phenylalanine level over 24 hours to see how much the level changes. The investigators will measure this in patients with typical PKU who are compliant with the diet and in patients who are not compliant with the diet. The investigators will also measure this in patients with “mild” PKU who do not usually have as high levels of phenylalanine. Finally, the investigators will see if patients on sapropterin have lower variation.

Eligibility Criteria

Birth Sex

All

Age

From 4 Years

Healthy Volunteers

No

Study Type:

Observational

Number of Participants:

32

Study Started:

2013-05

Study Updated:

2015-12-11

Trial Locations

  • McMaster Children's Hospital

    Hamilton, Ontario, Canada

  • Children's Hospital of Eastern Ontario

    Ottawa, Ontario, Canada

Inclusion Criteria

• Subjects ≥4 years of age with hyperphenylalaninemia. Must have at least 1 documented blood phenylalanine level >600 µmol/L for study groups (Wide PHE, Target PHE, Kuvan groups) or >120 µmol/L for control group.

Exclusion Criteria

  • Significant cognitive impairment (IQ <70 or clinical judgment).
  • Pregnancy
  • Other specific PKU therapies, including enzyme replacement therapy or any amino acid supplement designed to block uptake or transport of phenylalanine (i.e. large neutral amino acid mixtures)
  • Any intercurrent illness within the previous 5 days (any of fever, vomiting, diarrhea, decreased intake, upper respiratory tract infection)

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