Trial Outcomes & Findings for The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study (NCT NCT01917344)

NCT ID: NCT01917344

Last Updated: 2015-06-19

Results Overview

Brain Phe levels (umol/L) using MRI correlated spectroscopy and Blood Phe levels (umol/L) obtained on the same day.

• Recruitment status: COMPLETED
• Study phase: NA
• Target enrollment: 10 participants
• Primary outcome timeframe: During period of evaluation, approximately 8 hours
• Results posted on: 2015-06-19

Participant Flow

A recruitment letter was sent to adults with PKU who were not enrolled in another clinical trial.

Participant milestones

Measure	Adults With PKU MRI, EEG, neuropsychological testing, neurological examination, blood draw, diet diary, physical examination MRI
Overall Study STARTED	10
Overall Study COMPLETED	9
Overall Study NOT COMPLETED	1

Reasons for withdrawal

Measure	Adults With PKU MRI, EEG, neuropsychological testing, neurological examination, blood draw, diet diary, physical examination MRI
Overall Study Withdrawal by Subject	1

Baseline Characteristics

The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study

Baseline characteristics by cohort

Measure	Adults With PKU n=10 Participants MRI, EEG, neuropsychological testing, neurological examination, blood draw, diet diary, physical examination MRI
Age, Categorical <=18 years	0 Participants n=5 Participants
Age, Categorical Between 18 and 65 years	10 Participants n=5 Participants
Age, Categorical >=65 years	0 Participants n=5 Participants
Age, Continuous	29 years STANDARD_DEVIATION 5 • n=5 Participants
Sex: Female, Male Female	5 Participants n=5 Participants
Sex: Female, Male Male	5 Participants n=5 Participants
Region of Enrollment United States	10 participants n=5 Participants

PRIMARY outcome

Timeframe: During period of evaluation, approximately 8 hours

Brain Phe levels (umol/L) using MRI correlated spectroscopy and Blood Phe levels (umol/L) obtained on the same day.

Outcome measures

Measure	Adults With PKU n=9 Participants MRI, EEG, neuropsychological testing, neurological examination, blood draw, diet diary, physical examination MRI
Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood White Matter	130 umol/L Standard Deviation 38
Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood Gray Matter	137 umol/L Standard Deviation 24
Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood Blood Phe level	961 umol/L Standard Deviation 378

SECONDARY outcome

Timeframe: During period of evaluation, approximately 8 hours

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: During period of evaluation, approximately 8 hours

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: During period of evaluation, approximately 8 hours

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: During period of evaluation, approximately 8 hours

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: During period of evaluation, approximately 8 hours

Outcome measures

Outcome data not reported

Adverse Events

Adults With PKU

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

Susan Waisbren, P.h.D

Boston Children's Hospital

Phone: 617-355-7346

Email: susan.waisbren@childrens.harvard.edu

Results disclosure agreements

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