Metabolic Disorders - Phenylketonuria MedDRA version: 20.0 Level: LLT Classification code 10034873 Term: Phenylketonuria (PKU) System Organ Class: 100000004850
Conditions
Sponsors
PTC Therapeutics, Inc.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Informed consent and assent (if necessary, at the investigator’s discretion [ie, for children and/or subjects that are mentally impaired secondary to disease]) with parental/legal guardian consent 2. Completed a PTC-sponsored Phase 3 PKU clinical study 3. Women of childbearing potential, as defined in (CTFG 2020), must have a negative pregnancy test at study entry and agree to abstinence or the use of at least one highly effective form of contraception (with a failure rate of =65 years) yes F.1.3.1 Number of subjects for this age range 20
Exclusion criteria
Exclusion criteria: 1. The individual, in the opinion of the investigator, is unwilling or unable to adhere to the requirements of the study 2. Inability to tolerate oral medication 3. A female who is pregnant or breastfeeding, or considering pregnancy 4. Serious neuropsychiatric illness (eg, major depression) not currently under medical control, that in the opinion of the investigator or sponsor, would interfere with the subject’s ability to participate in the study or increase the risk of participation for that subject 5. Past medical history and/or evidence of renal impairment and/or condition including moderate/severe renal insufficiency (glomerular filtration rate [GFR] <60 mL/min) as estimated most recently during qualifying participation in a feeder study) and/or under care of a nephrologist 6. Any other condition that in the opinion of the investigator or sponsor, would interfere with the subject’s ability to participate in the study or increase the risk of participation for that subject 7. Requirement for concomitant treatment with any drug known to inhibit folate synthesis (eg, methotrexate) 8. Concomitant treatment with BH4 supplementation (eg, sapropterin dihydrochloride, KUVAN) or pegvaliase-pqpz (PALYNZIQ)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: • To evaluate the long-term safety of PTC923 in subjects with PKU • To evaluate changes from baseline in dietary Phe/protein consumption;Secondary Objective: • To evaluate PTC923 effect on quality of life (QOL) using the Phenylketonuria-quality of life (PKU-QOL) questionnaire in the subset of subjects that are able to complete the PKU-QOL (ie, subjects 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) • To evaluate PTC923 effect of QOL using the European Quality of Life 5 Dimensions (EQ-5D) (EQ-5D for Youth [EQ-5D-Y] Proxy Version 1 [3 to 7 years]; EQ-5D-Y [8 to 15 years]; EQ-5D-5L ([=16 years]) •To evaluate the pharmacokinetics (PK) of sepiapterin and tetrahydrobiopterin (BH4) following repeated doses of PTC923 ;Primary end point(s): Safety is a primary endpoint: Safety of long-term treatment with PTC923 will be measured by number of treatment-emergent adverse events (TEAEs), including assessment of severity of TEAEs, clinical laboratory tests, vital signs, and physical examinations. The primary efficacy endpoint is the change from baseline in dietary Phe/protein consumption measured during Phe Tolerance Assessment period.;Timepoint(s) of evaluation of this end point: Safety of long-term treatment with PTC923 will be measured by number of treatment-emergent adverse events (TEAEs), including assessment of severity of TEAEs, clinical laboratory tests, vital signs, and physical examinations. Phe tolerance evaluated at Baseline and every 2 weeks over the course of 26 weeks assessment period | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): • Changes from baseline in QOL using PKU-QOL questionnaire in the subset of subjects that are able to complete the PKU-QOL (ie, subjects 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) • Changes from baseline in QOL 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]) •PK assessment of sepiapterin and BH4 concentrations in plasma using sparse sampling ;Timepoint(s) of evaluation of this end point: Secondary measures will be evaluated at 6-month intervals starting at M8D1. | — |
Countries
Australia, Brazil, Canada, Denmark, France, Georgia, Germany, Italy, Mexico, Netherlands, Portugal, Spain, Turkey, United Kingdom, United States
Contacts
Public ContactPatient Advocacy
PTC Therapeutics Inc.
Outcome results
None listed