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NCT02677870 · ClinicalTrials.gov registry record · Phase 4

The Effectiveness of Kuvan in Amish PKU Patients

A Phase 4 study of Phenylketonuria, sponsored by University Hospitals Cleveland Medical Center.

Completed
Registry status
Phase 4
Development phase
7
Enrollment target
1
Study location

NCT02677870 is a Phase 4 study of Phenylketonuria that has completed, run by University Hospitals Cleveland Medical Center. The registered enrollment target is 7 participants, below the 98-participant average among 12 other Phenylketonuria trials with a reported enrollment target (93% lower). The trial reports 1 study location across 1 state.

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The verdict

NCT02677870, a Phase 4 study of Phenylketonuria, has completed, sponsored by University Hospitals Cleveland Medical Center.

COMPLETED
Registry status
Phase 4
Development phase
7 participants
Enrollment target
1
Study location

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

FieldValue
Enrollment Target 7 participants
Start Date 2018-01-22
Est. Completion 2019-01-01
Phase Phase 4

What the Registry Record Tells You About NCT02677870

The ClinicalTrials.gov registry entry for NCT02677870 describes a study currently listed as completed, categorized as Phase 4. The registered enrollment target is 7 participants, a figure that helps gauge the scale of data the investigators plan to collect, below the 98-participant average among 12 other Phenylketonuria trials with a reported enrollment target (93% lower). The listed sponsor is University Hospitals Cleveland Medical Center, which has 230 total studies on file at ClinicalTrials.gov.

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.

NCT02677870 reports 1 study location spanning 1 distinct geographic area - top geographies include Ohio.

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.

What interventions are being tested in trial NCT02677870?

The interventions under investigation include: saproterin dihydrochloride (DRUG), Diet treatment (OTHER).

Who is sponsoring clinical trial NCT02677870?

This trial is sponsored by University Hospitals Cleveland Medical Center, which has 230 total clinical trials registered on ClinicalTrials.gov.

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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