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The Effectiveness of Kuvan in Amish PKU Patients
NCT02677870 · View on ClinicalTrials.gov ↗
Study 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 \<1% residual activity of the PAH enzyme and an insignificant responsiveness to Saproterin. However, in this specific study Phe levels were evaluated only over 24 hours after a single-dose BH4 challenge at the standard dose of 20mg/kg. Based on new clinical information, the investigators hypothesize that if given a prolonged trial of Saproterin at a higher dose, Amish patients with PKU, specifically those homozygous for the c.1066-11G\>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.
Conditions Studied
Interventions
- DRUG saproterin dihydrochloride
- OTHER Diet treatment
Study Locations (1)
Ohio
- University Hospitals Cleveland Medical Center — Cleveland
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 7 participants |
| Start Date | 2018-01-22 |
| Est. Completion | 2019-01-01 |
| Phase | Phase 4 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT02677870
The ClinicalTrials.gov registry entry for NCT02677870 describes a study currently listed as completed. It is categorized as Phase 4, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 7 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is University Hospitals Cleveland Medical Center, which has 190 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 1 condition, with Phenylketonuria appearing as the primary indexed condition, and to 2 interventions — of which saproterin dihydrochloride is the first listed. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT02677870 reports 1 study location spanning 1 distinct geographic area — top geographies include Ohio. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT02677870 about?
NCT02677870 is a clinical study titled "The Effectiveness of Kuvan in Amish PKU Patients". 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 s...
What is the current status of trial NCT02677870?
This trial is currently completed. It is a Phase 4 study. The enrollment target is 7 participants. The study started on 2018-01-22. Estimated completion is 2019-01-01.
What conditions does trial NCT02677870 study?
This clinical trial studies the following conditions: Phenylketonuria. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
What interventions are being tested in trial NCT02677870?
The interventions under investigation include: saproterin dihydrochloride (DRUG), Diet treatment (OTHER). Each intervention is being evaluated for safety and efficacy as part of this clinical study.
Who is sponsoring clinical trial NCT02677870?
This trial is sponsored by University Hospitals Cleveland Medical Center, which has 190 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT02677870 being conducted?
This trial has 1 study location across Ohio. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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