Trial Outcomes & Findings for Nutritional and Neurotransmitter Changes in PKU Subjects on BH4 (NCT NCT00688844)

NCT ID: NCT00688844

Last Updated: 2015-06-08

Results Overview

Change in Body mass index (BMI) from baseline of Kuvan study to 12 months post-baseline

• Recruitment status: COMPLETED
• Target enrollment: 58 participants
• Primary outcome timeframe: Baseline and 12 months
• Results posted on: 2015-06-08

Participant Flow

Recruitment lasted 1 year from October 2008 - October 2009. Recruitment occurred at the Emory University Genetics Clinic, Department of Human Genetics in Decatur, GA.

There were no exclusions of subjects once enrolled.

Participant milestones

Measure	Subjects With Phenylketonuria Starting Sapropterin Therapy Subjects with Phenylketonuria starting sapropterin therapy for the purpose of lowering blood phenylalanine levels.
Overall Study STARTED	58
Overall Study COMPLETED	48
Overall Study NOT COMPLETED	10

Reasons for withdrawal

Measure	Subjects With Phenylketonuria Starting Sapropterin Therapy Subjects with Phenylketonuria starting sapropterin therapy for the purpose of lowering blood phenylalanine levels.
Overall Study Lost to Follow-up	10

Baseline Characteristics

Nutritional and Neurotransmitter Changes in PKU Subjects on BH4

Baseline characteristics by cohort

Measure	Subjects With Phenylketonuria Starting Sapropterin Therapy n=58 Participants Subjects with Phenylketonuria starting sapropterin therapy for the purpose of lowering blood phenylalanine levels.
Age, Categorical <=18 years	38 Participants n=5 Participants
Age, Categorical Between 18 and 65 years	20 Participants n=5 Participants
Age, Categorical >=65 years	0 Participants n=5 Participants
Age, Continuous	17 years STANDARD_DEVIATION 11 • n=5 Participants
Sex: Female, Male Female	24 Participants n=5 Participants
Sex: Female, Male Male	34 Participants n=5 Participants
Region of Enrollment United States	58 participants n=5 Participants

PRIMARY outcome

Timeframe: Baseline and 12 months

Population: Data missing for 2 participants

Change in Body mass index (BMI) from baseline of Kuvan study to 12 months post-baseline

Outcome measures

Measure	Subjects With Phenylketonuria Starting Sapropterin Therapy n=46 Participants Subjects with Phenylketonuria starting sapropterin therapy for the purpose of lowering blood phenylalanine levels.
Change From Baseline in BMI at 12 Months	-0.65574 kg/m^2 Standard Deviation 8.060658

PRIMARY outcome

Timeframe: Baseline and 12 months

Population: Data missing for 3 participants

Change in bone mineral density (BMD) from baseline of Kuvan study to 12 months post-baseline

Outcome measures

Measure	Subjects With Phenylketonuria Starting Sapropterin Therapy n=45 Participants Subjects with Phenylketonuria starting sapropterin therapy for the purpose of lowering blood phenylalanine levels.
Change From Baseline in Bone Mineral Density (BMD) at 12 Months	0.005401 grams/centimeter^2 Standard Deviation 0.0243

PRIMARY outcome

Timeframe: Baseline and 12 months

Population: Data missing for 3 participants

% lean mass was measured via dual energy x-ray absorptiometry (DXA)

Outcome measures

Measure	Subjects With Phenylketonuria Starting Sapropterin Therapy n=45 Participants Subjects with Phenylketonuria starting sapropterin therapy for the purpose of lowering blood phenylalanine levels.
Change From Baseline in Percent (%) Lean Mass at 12 Months	2.419224 Percent Lean Mass Standard Deviation 3.4666

PRIMARY outcome

Timeframe: Baseline and 12 months

Population: Data missing for 3 participants

Percent fat mass measured via dual energy x-ray absorptiometry (DXA)

Outcome measures

Measure	Subjects With Phenylketonuria Starting Sapropterin Therapy n=45 Participants Subjects with Phenylketonuria starting sapropterin therapy for the purpose of lowering blood phenylalanine levels.
Change From Baseline in Percent (%) Fat Mass at 12 Months	1.208889 Percent Fat Mass Standard Deviation 3.519867

PRIMARY outcome

Timeframe: Baseline and 12 months

Full amino acid panel, including phenylalanine, analyzed in fasting plasma samples.

Outcome measures

Measure	Subjects With Phenylketonuria Starting Sapropterin Therapy n=48 Participants Subjects with Phenylketonuria starting sapropterin therapy for the purpose of lowering blood phenylalanine levels.
Change From Baseline in Plasma Phenylalanine at 12 Months	-67.5187 Micromoles per liter Standard Deviation 362.9412

PRIMARY outcome

Timeframe: Baseline and 12 months

Population: Dietary intake not submitted by 11 participants at 12 months.

Total dietary protein intake assessed through 3-day food records - calculated as average protein intake (grams/day) in the 3 days recorded

Outcome measures

Measure	Subjects With Phenylketonuria Starting Sapropterin Therapy n=37 Participants Subjects with Phenylketonuria starting sapropterin therapy for the purpose of lowering blood phenylalanine levels.
Change From Baseline in Total Dietary Protein Intake at 12 Months	-10.9549 grams per day Standard Deviation 20.10814

PRIMARY outcome

Timeframe: Baseline and 12 months

Population: Dietary intake not submitted by 11 participants at 12 months.

Total dietary phenylalanine assessed through 3-day food records - calculated as average phenylalanine intake (grams/day) in the 3 days recorded

Outcome measures

Measure	Subjects With Phenylketonuria Starting Sapropterin Therapy n=37 Participants Subjects with Phenylketonuria starting sapropterin therapy for the purpose of lowering blood phenylalanine levels.
Change From Baseline in Phenylalanine Intake at 12 Months	0.131676 grams per day Standard Deviation 0.797247

OTHER_PRE_SPECIFIED outcome

Timeframe: Baseline and 12 months

Objective: 1 year prospective cohort of PKU patients introduced to sapropterin (Kuvan)to evaluate peripheral neurotransmitter changes across time.

Outcome measures

Outcome data not reported

Adverse Events

Subjects With Phenylketonuria Starting Sapropterin Therapy

Serious events: 0 serious events

Other events: 20 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Measure	Subjects With Phenylketonuria Starting Sapropterin Therapy n=58 participants at risk Subjects with Phenylketonuria starting sapropterin therapy for the purpose of lowering blood phenylalanine levels.
Infections and infestations Sinus and general respiratory infections	19.0% 11/58 • Number of events 13
Nervous system disorders Headache	13.8% 8/58 • Number of events 9
Gastrointestinal disorders Gastrointestinal upset (not flu)	5.2% 3/58 • Number of events 3
Renal and urinary disorders Urinary tract infection	5.2% 3/58 • Number of events 3
Infections and infestations Flu and flu-type sickness	12.1% 7/58 • Number of events 8
Respiratory, thoracic and mediastinal disorders Sore throat	6.9% 4/58 • Number of events 6

Additional Information

Rani H. Singh

Emory University

Phone: 404-448-8519

Email: rsingh@emory.edu

Results disclosure agreements

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