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The Effectiveness of Kuvan in Amish PKU Patients

NCT02677870 · Status: COMPLETED · Phase: PHASE4 · Type: INTERVENTIONAL · Enrollment: 7

Last updated 2022-04-27

Study results available
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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

Interventions

DRUG

saproterin dihydrochloride

The drug will be given as described in the arm/group descriptions.

OTHER

Diet treatment

Patients will maintain a stable, Phe restricted diet (including formula) that is consistent with their diet at the time of enrollment. This will be monitored by food diaries kept for 3 days of each week.

Sponsors & Collaborators

Principal Investigators

  • Lori-Anne P Schillaci, MD · University Hospitals Cleveland Medical Center

Study Design

Allocation
RANDOMIZED
Purpose
TREATMENT
Masking
QUADRUPLE
Model
CROSSOVER

Eligibility

Min Age
2 Years
Max Age
60 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-01-22
Primary Completion
2018-11-20
Completion
2019-01-01
FDA Drug
Yes

Countries

  • United States

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02677870 on ClinicalTrials.gov