Phase 4 Completed N=7 Randomized Quadruple-blind Treatment

The Effectiveness of Kuvan in Amish PKU Patients

Source: ClinicalTrials.gov NCT02677870 ↗

Enrolled (actual)

Serious AEs

0.0%

Results posted

Apr 2022

Primary outcomePrimary: Number of Participants With 20% Decrease in Phenylalanine Levels From Baseline (Positive Response) — 0; 0; 0 Participants

◆ Published Evidence

No publication linked

No peer-reviewed publication reporting this trial's results has been linked yet. This can indicate results are unpublished — a known publication-bias signal. We re-check periodically.

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.

Outcome Measures

Outcome	Result	p-value
PRIMARY Number of Participants With 20% Decrease in Phenylalanine Levels From Baseline (Positive Response)	0; 0; 0	—

Eligibility Criteria

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 sequencing

View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT02677870). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication. Informational only — not medical advice.