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Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia

NCT01869972 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 32

Last updated 2015-12-11

No results posted yet for this study

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.

Conditions

Sponsors & Collaborators

  • McMaster Children's Hospital

    collaborator OTHER

  • Children's Hospital of Eastern Ontario

    collaborator OTHER

  • BioMarin Pharmaceutical

    collaborator INDUSTRY

  • Hamilton Health Sciences Corporation

    lead OTHER

Principal Investigators

  • Murray Potter, MD · Hamilton Health Sciences Corporation

Eligibility

Min Age
4 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-05-31
Primary Completion
2015-12-31
Completion
2015-12-31

Countries

  • Canada

Study Locations

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Diseases
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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01869972 on ClinicalTrials.gov