Status:
COMPLETED
Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia
Lead Sponsor:
Hamilton Health Sciences Corporation
Collaborating Sponsors:
McMaster Children's Hospital
Children's Hospital of Eastern Ontario
Conditions:
Phenylketonuria
Hyperphenylalaninemia
Eligibility:
All Genders
4+ years
Brief 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 childre...
Detailed Description
Phenylketonuria (OMIM 261600) results from the inherited deficiency of the enzyme phenylalanine hydroxylase, (PAH, Enzyme Classification 1.14.16.1). A deficiency of this enzyme leads to elevated blood...
Eligibility Criteria
Inclusion
- • 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
- 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).
Key Trial Info
Start Date :
May 1 2013
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 1 2015
Estimated Enrollment :
32 Patients enrolled
Trial Details
Trial ID
NCT01869972
Start Date
May 1 2013
End Date
December 1 2015
Last Update
December 11 2015
Active Locations (2)
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1
McMaster Children's Hospital
Hamilton, Ontario, Canada, L8S 4J9
2
Children's Hospital of Eastern Ontario
Ottawa, Ontario, Canada, K1H 8L1