Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU)
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|ClinicalTrials.gov Identifier: NCT00065299|
Recruitment Status : Completed
First Posted : July 22, 2003
Last Update Posted : June 24, 2005
|Condition or disease||Intervention/treatment||Phase|
|Phenylketonuria||Behavioral: Restricted phenylalanine diet||Not Applicable|
PKU is an autosomal recessive trait caused by the absence of phenylalanine hydroxylase. Phenylalanine hydroxylase is an enzyme involved in the metabolism of phenylalanine (Phe). When phenylalanine hydroxylase is absent or defective, Phe levels rise and toxic Phe metabolites accumulate, causing central nervous system injury. PKU is a treatable disease. Affected individuals must adhere to a diet low in Phe during childhood. Women with PKU should also adhere to a low Phe diet before and during pregnancy to avoid fetal damage. The offspring of women with untreated maternal hyperphenylalaninemia (HPA) usually exhibit mental retardation, microcephaly, growth retardation, and other congenital anomalies. This study will examine the effect of a restricted Phe diet on reproductive outcome in women with maternal HPA.
Participants in this study will be women with HPA whose blood Phe values are persistently greater than 4 mg/dl. Those women with blood Phe values consistently greater than 8 mg/dl will be placed on a Phe restricted diet to maintain plasma Phe concentrations between 2 and 8 mg/dl. This level of control is practical and achievable. Due to a gradient of increasing Phe level from mother to fetus, levels in the latter would vary from 3.5 to 12 mg/dl; these levels are usually associated with normal outcomes. Women will be monitored throughout their pregnancy on obstetric, biochemical, and nutritional parameters. Women on the Phe restricted diet will be given enough Phe-limited protein, calories, vitamins, and minerals to maintain adequate nutritional status. Folate supplementation will be provided. If indicated clinically, tyrosine (Tyr) and supplemental trace metals will be prescribed.
A matching control sample of women and their offspring will be developed in collaboration with associated coordinating and collaborating centers. The offspring of both groups of mothers will be followed as long as the project permits. Those offspring born to mothers admitted to the project during the first 2 to 3 years of the study will be assessed on their intellectual ability and physical health, as well as academic achievement in school. Those admitted during the last 3 to 4 years of the study will be assessed on their intellectual ability and physical health, recognizing that limited data will be available for these offspring.
|Study Type :||Interventional (Clinical Trial)|
|Enrollment :||572 participants|
|Masking:||None (Open Label)|
|Official Title:||Effects of Maternal Phenylketonuria (PKU) on Pregnancy Outcome|
|Study Start Date :||May 1984|
|Study Completion Date :||April 2000|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00065299
|United States, California|
|University of Southern California School of Medicine|
|Los Angeles, California, United States, 90027|
|United States, Illinois|
|University of Illinois at Chicago|
|Chicago, Illinois, United States|
|United States, Texas|
|University of Texas Medical Branch at Galveston|
|Galveston, Texas, United States|
|Principal Investigator:||Richard Koch, M.D.||University of Southern California|
|Principal Investigator:||Reuben Matalon, M.D.||University of Illinois at Chicago|
|Principal Investigator:||Bobbye M. Rouse, M.D.||University of Texas at Galveston|