The main purpose of this study is to evaluate the long-term safety of PTC923 in participants with phenylketonuria, and to evaluate the changes from baseline in dietary phenylalanine (Phe)/protein consumption.
Eligible participants are: Feeder participants: those who have completed a Phase 3 PTC Therapeutics (PTC) sponsored feeder study. Non-feeder controlled participants: those who have not completed a feeder study and have blood Phe levels \<360 μmol/L at study entry. Non-feeder uncontrolled participants: those who have not completed a feeder study and have blood Phe levels ≥360 μmol/L at study entry.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
247
PTC923 powder for oral use will be suspended in water or apple juice prior to administration.
Number of Treatment-Emergent Adverse Events (TEAEs)
A TEAE is any unfavorable or unintended sign (including an abnormal laboratory finding), symptom or disease in a study participant who is administered study drug in this study
Time frame: Baseline up to end of study (up to 4 years)
Change From Baseline in Dietary Phe/Protein Consumption at Week 26, Measured During Phe Tolerance Assessment Period
Phe tolerance is defined as the total amount of dietary Phe (milligrams \[mg\]/kilogram \[kg\] per day) ingested while maintaining blood Phe levels within the range of 40 to 360 micromoles (μmol)/liter (L) (defined as ≥40 to \<360 μmol/L).
Time frame: Baseline, Week 26
Change From Baseline in Quality of Life (QOL) Using Phenylketonuria-Quality of Life (PKU-QOL) Questionnaire at Months 8, 14, 20, 26, 32, and 38
QOL using PKU-QOL questionnaire will be assessed in the subset of participants who are able to complete the PKU-QOL (that is, participants whose primary language is English \[British or American\], Turkish, Dutch, German, Spanish, Italian, Portuguese, or French) (ages 6 to 8 years Parent PKU-QOL; ages 9 to 11 years Child PKU-QOL; ages 12 to 17 years Adolescent PKU-QOL; ages ≥18 years Adult PKU-QOL).
Time frame: Baseline, Months 8, 14, 20, 26, 32, and 38
Change From Baseline in QOL Using the European Quality of Life - 5 Dimensions (EQ-5D) at Months 8, 14, 20, 26, 32, and 38
QOL will be assessed using the EQ-5D (EQ-5D-Y Proxy Version 1 \[3 to 7 years\]; EQ-5D-Y \[8 to 15 years\]; EQ-5D-5L (\[≥16 years\]).
Time frame: Baseline, Months 8, 14, 20, 26, 32, and 38
Palatability of PTC923
For participants \<5 years of age, palatability will be indirectly assessed by the parent(s)/caregiver(s) of participants using the following: On the basis of the reaction/facial expression of your child, do you think that the medication is (pleasant, not sure, unpleasant)?
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Children's Hospital Colorado
Aurora, Colorado, United States
UF College of Medicine, Department of Pediatrics Division of Genetics and Metabolism
Gainesville, Florida, United States
Indiana University School of Medicine Department of Medical and Molecular Genetics
Indianapolis, Indiana, United States
Boston Children's Hospital
Boston, Massachusetts, United States
Icahn School of Medicine at Mount Sinai (ISMMS)
New York, New York, United States
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States
University of Utah
Salt Lake City, Utah, United States
The Queensland Children's Hospital
South Brisbane, Brisbane, Australia
Westmead Hospital
Westmead, New South Wales, Australia
PARC Clinical Research
Adelaide, South Australia, Australia
...and 36 more locations
Time frame: Month 1 Day 1
Acceptability/Ease of Administration of PTC923
For all participants \<12 years of age, parent(s)/caregiver(s) will rate the acceptability/ease of administration, with the following question: Do you sometimes have problems in giving the medication to your child because he/she refuses to take it or throws it up? (Yes/No).
Time frame: Month 1 Day 1
Taste/Flavor Assessment Using a Facial Hedonic Scale
For participants ≥5 to \<18 years of age who are able to comply with the instructions, the participant will rate the taste/flavor using a facial hedonic scale (5=really good; 4=good; 3=not sure; 2=bad; 1=really bad).
Time frame: Month 1 Day 1
Plasma Sepiapterin Concentration
Time frame: Month 1 Day 1 up to Month 11 Day 1
Plasma BH4 Concentration
Time frame: Month 1 Day 1 up to Month 11 Day 1