PhenylketonuriaNCT00065299
Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU)
A study testing Restricted phenylalanine diet in people with Phenylketonuria, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 3 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 years and older, women onlyHealthy volunteers can take part
- Conditions the study is for
- Phenylketonuria
- What is being tested?
- Restricted phenylalanine diet
- Type of treatment
- Lifestyle or therapy programme
- How many people
- 572 participants
- Where
- 3 sitesUnited States
- Study dates
- May 1984to Apr 2000
- Phase
- Interventional
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 years and older
- Women only
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Live in community setting
- Become pregnant or give birth during the term of the investigation
- Identified early in pregnancy
- Dietary therapy instituted prior to conception whenever possible
- Diagnosis of PKU based on results of Phe challenge, or clear diagnostic evidence in medical record
- Blood Phe > 4 mg/dl
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- Intellectually able to understand and comply with the requirements of the Phe restricted diet, understand an informed consent, and adequately communicate with clinic personnel
- IQ > 70
- Heterozygous sisters to HPA women
- Matched control from maternity facility; pregnancy and offspring from a non-PKU female and a PKU male
Who cannot join
- Women with evidence of pterin defect
Trial locations and contacts
3 sites in 1 country.
United States3 sites
University of Illinois at Chicago
Chicago, Illinois
University of Texas Medical Branch at Galveston
Galveston, Texas
University of Southern California School of Medicine
Los Angeles, California, 90027
About this study
Official title: Effects of Maternal Phenylketonuria (PKU) on Pregnancy Outcome
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.
Read the 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 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.
- Conditions
- Phenylketonuria
- Being tested
- Restricted phenylalanine diet
- Keywords
- Hyperphenylalaninemia, PKU, Maternal PKU, Pregnancy outcome, Phenylalanine restricted diet, Tyrosine supplementation, Maternal hyperphenylalanemia during pregnancy
- Medical subject headings
- Phenylketonurias, Phenylketonuria, Maternal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Restricted phenylalanine dietBehavioural
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jul 2003 (estimated)
- Study startMay 1984
- Study completionApr 2000
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for PhenylketonuriaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Masking
- None (open label)
- Enrolment
- 572 participants
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Investigators
- Richard Koch, M.D., Principal investigator, University of Southern CaliforniaReuben Matalon, M.D., Principal investigator, University of Illinois at ChicagoBobbye M. Rouse, M.D., Principal investigator, University of Texas at Galveston
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00065299
- Sponsor's protocol ID
- NICHD-PKU
- Other IDs
- 1N01HD23148, 1N01HD23155, 1N01HD23156
- Status last verified
- May 2000
- First submitted
- 21 Jul 2003
- Last updated
- 24 Jun 2005
- Results posted
- No
Publications
Levy HL, Guldberg P, Guttler F, Hanley WB, Matalon R, Rouse BM, Trefz F, Azen C, Allred EN, de la Cruz F, Koch R. Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study. Pediatr Res. 2001 May;49(5):636-42. doi: 10.1203/00006450-200105000-00005.
PubMed 11328945Koch R, Levy HL, Matalon R, Rouse B, Hanley WB, Trefz F, Azen C, Friedman EG, de la Cruz F, Guttler F, et al. The international collaborative study of maternal phenylketonuria: status report 1994. Acta Paediatr Suppl. 1994 Dec;407:111-9. doi: 10.1111/j.1651-2227.1994.tb13468.x.
PubMed 7766945Matalon R, Michals K, Azen C, Friedman E, Koch R, Rouse B, Hanley WB, de la Cruz F. Maternal PKU Collaborative Study: pregnancy outcome and postnatal head growth. J Inherit Metab Dis. 1994;17(3):353-5. doi: 10.1007/BF00711828. No abstract available.
PubMed 7807951Koch R, Levy HL, Matalon R, Rouse B, Hanley W, Azen C. The North American Collaborative Study of Maternal Phenylketonuria. Status report 1993. Am J Dis Child. 1993 Nov;147(11):1224-30. doi: 10.1001/archpedi.1993.02160350098015.
PubMed 8237918Koch R, Hanley W, Levy H, Matalon R, Rouse B, Dela Cruz F, Azen C, Gross Friedman E. A preliminary report of the collaborative study of maternal phenylketonuria in the United States and Canada. J Inherit Metab Dis. 1990;13(4):641-50. doi: 10.1007/BF01799519.
PubMed 2122127