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The Effectiveness of Kuvan in Amish PKU Patients

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Trial Status Completed

Trial Identifier

NCT02677870

Condition

Phenylketonuria

The below information is taken directly from public registry websites such as ClinicalTrials.gov, EuClinicalTrials.eu, ISRCTN.com, etc. and has not been edited.

Trial Summary

The purpose of this study is to determine if Amish patients with PKU show responsiveness after a high dose, prolonged Saproterin trial. The population of interest has a high frequency of a specific splice site mutation, the 1066-11G>A mutation. This splice site mutation activates a cryptic splice site resulting in an in frame insertion of 9 nucleotides preceding exon 11. This leads to protein conformational changes and abrogation of function. Previous studies of this genotype have indicated A mutation, will have a significant reduction in Phe levels or an increase in Phe tolerance and/or improvement in executive functioning and quality of life.

Eligibility Criteria

Birth Sex

All

Age

2 Years to 60 Years

Healthy Volunteers

No

Drug/Treatment:

saproterin dihydrochloride, Diet treatment

Phase:

Phase 4

Study Type:

Interventional

Number of Participants:

7

Study Started:

2018-01-22

Study Updated:

2022-04-27

Trial Locations

  • University Hospitals Cleveland Medical Center

    Cleveland, Ohio, United States

Inclusion Criteria

  • Current diagnosis of PKU with the following:
  • Age of at least 2 years or older
  • Baseline Phe level of > 360 umol/L
  • Willing to maintain a stable diet
  • Patient or guardian are willing and able to provide written, signed informed consent after the nature of the study has been explained and prior to any research-related procedures
  • Are willing to comply with all study procedures
  • Two identifiable mutations found on PAH gene sequencing
  • Any patients already taking Saproterin (or have taken in the past), must have a treatment end date at least 14 days prior to Day 1 of the study.

Exclusion Criteria

  • Any patient currently taking Saproterin who has taken the medication at any point in the 14 days prior to Day 1 of the study
  • Under 2 years of age
  • Unwilling to maintain a stable diet
  • Patients with baseline Phe levels < 360 umol/L
  • Patients unable to comply with all study procedures
  • Patients unable to provide written, signed informed consent
  • One (or no) identifiable mutations found on PAH gene sequencin

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