MedTrace Logo

Sapropterin in Individuals With Phenylketonuria

NCT00730080 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 45

Last updated 2018-06-18

No results posted yet for this study

Summary

Investigators at Washington University will examine the effects of sapropterin (Kuvan) on brain and cognition in individuals with phenylketonuria (PKU) using neuropsychological and neuroimaging procedures. Sapropterin is a medication developed by BioMarin Pharmaceutical Inc. that is approved by the FDA for treatment of patients with PKU to reduce phenylalanine (Phe) levels. Patients beginning treatment with sapropterin as standard clinical care will be enrolled in the study. As a first step, patients with PKU will receive baseline neuropsychological and neuroimaging evaluations 1 day prior to beginning treatment with sapropterin. Screening for response to sapropterin will occur over 4 weeks. At the end of 4 weeks, response to sapropterin will be reviewed. Patients with a reduction of ≥ 20% in blood Phe (i.e., responders) will receive follow-up neuropsychological and neuroimaging evaluations after 6 months of treatment with sapropterin. Patients (both responders and nonresponders) will receive long-term follow-up neuropsychological and neuroimaging evaluations 3 to 5 years after initial enrollment in the study.

The focus of neuropsychological testing will be executive abilities, as these abilities are particularly susceptible to disruption in individuals with PKU. We hypothesize that improvements in these abilities will occur following treatment with sapropterin. For neuroimaging assessments, structural magnetic resonance imaging (MRI) will permit evaluation of changes in the structure and volume of the gray and white matter of the brain, whereas diffusion tensor imaging (DTI) will permit evaluation of microstructural white matter integrity.

Conditions

Interventions

DRUG

Sapropterin (Kuvan)

20mg/kg/day taken once daily or as otherwise prescribed by physician as standard care.

Sponsors & Collaborators

  • BioMarin Pharmaceutical

    collaborator INDUSTRY

  • University of Missouri-Columbia

    collaborator OTHER

  • Washington University School of Medicine

    lead OTHER

Principal Investigators

  • Desiree White, Ph.D. · Washington University School of Medicine

  • Dorothy K. Grange, M.D. · Washington University School of Medicine

Eligibility

Min Age
6 Years
Max Age
50 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2008-07-31
Primary Completion
2018-05-31
Completion
2018-05-31

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00730080 on ClinicalTrials.gov