Trial Outcomes & Findings for The Effectiveness of Kuvan in Amish PKU Patients (NCT NCT02677870)

NCT ID: NCT02677870

Last Updated: 2022-04-27

Results Overview

Subjects will be assessed for plasma Phe concentration by dried blood spot cards during their initial visit (day 1) and every week thereafter. Except during the two week wash-out period where no plasma Phe will be collected. A decrease of plasma Phe levels from baseline by 20% will be considered a positive response.

• Recruitment status: COMPLETED
• Study phase: PHASE4
• Target enrollment: 7 participants
• Primary outcome timeframe: Baseline, weekly for 4 weeks during diet arm, weekly for 4 weeks during both high and standard dose arms
• Results posted on: 2022-04-27

Participant Flow

7/7 of the patients that were recruited were randomized and completed the study.

Participant milestones

Measure	Diet tx, Standard Dose Saproterin, Wash, High Dose Saproterin Enrolled patients with PKU received diet treatment only for 4 weeks. During this portion, no medication was administered and they followed their baseline low protein diet. They were then were randomized into standard dose Saproterin dihydrochloride(20 mg/kg/day). They completed 4 weeks of treatment with dosing above being administered once per day. There was then a 2 week washout period with no intervention. They were then treated with high dose Saproterin dihydrochloride (40 mg/kg/day). They completed 4 weeks of treatment with dosing above being administered once per day.	Diet, High Dose Saproterin, Wash, Standard Dose Saproterin Enrolled patients with PKU received diet treatment only for 4 weeks. During this portion, no medication was administered and they followed their baseline low protein diet. They were then were randomized into high dose Saproterin dihydrochloride (40 mg/kg/day). They completed 4 weeks of treatment with dosing above being administered once per day. There was then a 2 week washout period with no intervention. They were then treated with standard dose Saproterin dihydrochloride(20 mg/kg/day). They completed 4 weeks of treatment with dosing above being administered once per day.
Diet Treatment (4 Weeks) STARTED	4	3
Diet Treatment (4 Weeks) COMPLETED	4	3
Diet Treatment (4 Weeks) NOT COMPLETED	0	0
First Saproterin Dihydrochloride tx STARTED	4	3
First Saproterin Dihydrochloride tx COMPLETED	4	3
First Saproterin Dihydrochloride tx NOT COMPLETED	0	0
Washout (2 Weeks) STARTED	4	3
Washout (2 Weeks) COMPLETED	4	3
Washout (2 Weeks) NOT COMPLETED	0	0
Second Saproterin Dihydrochloride tx STARTED	4	3
Second Saproterin Dihydrochloride tx COMPLETED	4	3
Second Saproterin Dihydrochloride tx NOT COMPLETED	0	0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

Race and Ethnicity were not collected from any participant.

Baseline characteristics by cohort

Measure	Overall Study n=7 Participants Enrolled patients with PKU received diet treatment only for 4 weeks. Then were randomized into high dose saproterin dihydrochloride (40 mg/kg/day) or low dose saproterin dihydrochloride(20 mg/kg/day). They completed 4 weeks of treatment at either dose and then underwent a 2 week washout period without any medication. After the washout period, they were crossed over to receive the opposite dose for 4 weeks.
Age, Categorical <=18 years	4 Participants n=7 Participants
Age, Categorical Between 18 and 65 years	3 Participants n=7 Participants
Age, Categorical >=65 years	0 Participants n=7 Participants
Age, Continuous	21 years n=7 Participants
Sex: Female, Male Female	5 Participants n=7 Participants
Sex: Female, Male Male	2 Participants n=7 Participants
Region of Enrollment United States	7 Participants n=7 Participants
Phenylalanine level > 360 umol/L	7 Participants n=7 Participants

PRIMARY outcome

Timeframe: Baseline, weekly for 4 weeks during diet arm, weekly for 4 weeks during both high and standard dose arms

Population: All participants who completed all 4 weeks in each intervention were included in analysis.

Subjects will be assessed for plasma Phe concentration by dried blood spot cards during their initial visit (day 1) and every week thereafter. Except during the two week wash-out period where no plasma Phe will be collected. A decrease of plasma Phe levels from baseline by 20% will be considered a positive response.

Outcome measures

Measure	Diet Treatment n=7 Participants Enrolled patients with PKU received diet treatment only for 4 weeks. During this portion, no medication was administered and they followed their baseline low protein diet.	Standard Dose Saproterin Dihydrochloride n=7 Participants Participants who received Saproterin dihydrochloride at a dose of 20 mg/kg once daily (for 4 weeks) in either the first intervention or second intervention of the study.	High Dose Saproterin Dihydrochloride n=7 Participants Participants who received Saproterin dihydrochloride at a dose of 40 mg/kg once daily (for 4 weeks) in either the first intervention or second intervention of the study.
Number of Participants With 20% Decrease in Phenylalanine Levels From Baseline (Positive Response)	0 Participants	0 Participants	0 Participants

Adverse Events

High Dose Saproterin Dihydrochloride

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Diet Treatment

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Standard Dose Saproterin Dihydrochloride

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Dr. Lori-Anne Schillaci

UHCMC

Phone: 216-844-3936

Email: lori-anne.schillaci@uhhospitals.org

Results disclosure agreements

• Principal investigator is a sponsor employee
• Publication restrictions are in place