NCT00065299

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
572

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started May 1984

Longer than P75 for not_applicable

Geographic Reach
1 country

3 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

May 1, 1984

Completed
15.9 years until next milestone

Study Completion

Last participant's last visit for all outcomes

April 1, 2000

Completed
3.3 years until next milestone

First Submitted

Initial submission to the registry

July 21, 2003

Completed
1 day until next milestone

First Posted

Study publicly available on registry

July 22, 2003

Completed
Last Updated

June 24, 2005

Status Verified

May 1, 2000

First QC Date

July 21, 2003

Last Update Submit

June 23, 2005

Conditions

Phenylketonuria

Keywords

HyperphenylalaninemiaPKUMaternal PKUPregnancy outcomePhenylalanine restricted dietTyrosine supplementationMaternal hyperphenylalanemia during pregnancy

Interventions

Restricted phenylalanine dietBEHAVIORAL

Eligibility Criteria

Age0 Years+
Sexfemale
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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
  • 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

You may not qualify if:

  • Women with evidence of pterin defect

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (3)

University of Southern California School of Medicine

Los Angeles, California, 90027, United States

Location

University of Illinois at Chicago

Chicago, Illinois, United States

Location

University of Texas Medical Branch at Galveston

Galveston, Texas, United States

Location

Related Publications (5)

  • 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.

    PMID: 11328945BACKGROUND

  • Koch 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.

    PMID: 7766945BACKGROUND

  • Matalon 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.

    PMID: 7807951BACKGROUND

  • Koch 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.

    PMID: 8237918BACKGROUND

  • Koch 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.

    PMID: 2122127BACKGROUND

MeSH Terms

Conditions

PhenylketonuriasPhenylketonuria, Maternal

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesAmino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic DiseasesPregnancy ComplicationsFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital Diseases

Study Officials

  • 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

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
TREATMENT
Sponsor Type
NIH

Study Record Dates

First Submitted

July 21, 2003

First Posted

July 22, 2003

Study Start

May 1, 1984

Study Completion

April 1, 2000

Last Updated

June 24, 2005

Record last verified: 2000-05

Locations

US(3)