Phase 4
N=7
The Effectiveness of Kuvan in Amish PKU Patients
Phenylketonuria
Bottom Line
View on ClinicalTrials.gov: NCT02677870 ↗Enrolled (actual)
7
Serious AEs
0.0%
Results posted
Apr 2022
Primary outcome: Primary: Number of Participants With 20% Decrease in Phenylalanine Levels From Baseline (Positive Response) — 0; 0; 0 Participants
Study Design & Population
- Study type
- Interventional
- Phase
- Phase 4
- Interventions
- saproterin dihydrochloride (Drug); Diet treatment (Other)
- Age
- Pediatric, Adult · 2+ yrs
- Sex
- All
- Sponsor
- University Hospitals Cleveland Medical Center
- Primary completion
- Nov 2018
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Number of Participants With 20% Decrease in Phenylalanine Levels From Baseline (Positive Response) |
0; 0; 0 | — |
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
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
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.