Ignite Creation Date:
2024-05-05 @ 11:31 AM
Last Modification Date:
2024-10-26 @ 9:09 AM
Study NCT ID:
NCT00065299
Status:
COMPLETED
Last Update Posted:
2005-06-24
First Post:
2003-07-21
Brief Title:
Low Phenylalanine Diet for Mothers With Phenylketonuria PKU
Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Organization:
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Study Overview
Official Title:
Effects of Maternal Phenylketonuria PKU on Pregnancy Outcome
Status:
COMPLETED
Status Verified Date:
2000-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Phenylketonuria PKU is a rare genetic condition If not treated PKU can cause severe mental retardation Women with PKU are advised to eat a special diet when pregnant to prevent mental retardation in their children This study will evaluate the effects of that diet on the children of mothers with PKU
Detailed Description:
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 mgdl Those women with blood Phe values consistently greater than 8 mgdl will be placed on a Phe restricted diet to maintain plasma Phe concentrations between 2 and 8 mgdl 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 35 to 12 mgdl 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
Participants in this study will be women with HPA whose blood Phe values are persistently greater than 4 mgdl Those women with blood Phe values consistently greater than 8 mgdl will be placed on a Phe restricted diet to maintain plasma Phe concentrations between 2 and 8 mgdl 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 35 to 12 mgdl 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 1N01HD23148 | None | None | None |
| 1N01HD23155 | None | None | None |
| 1N01HD23156 | None | None | None |