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ACTIVE NOT RECRUITING

NCT05166161

PHASE3

A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria

Sponsor: PTC Therapeutics

View on ClinicalTrials.gov

Summary

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.

Official title: A Phase 3 Open-Label Study of PTC923 (Sepiapterin) in Phenylketonuria

Key Details

Gender

All

Age Range

Any - Any

Study Type

INTERVENTIONAL

Enrollment

200

Start Date

2022-02-14

Completion Date

2026-06-30

Last Updated

2026-03-23

Healthy Volunteers

Conditions

Phenylketonuria

Interventions

DRUG

PTC923

PTC923 powder for oral use will be suspended in water or apple juice prior to administration.

Inclusion Criteria: * Clinical diagnosis of PKU with hyperphenylalaninemia (HPA) documented by past medical history of at least 2 blood Phe measurements ≥600 μmol/L. * Women of childbearing potential must have a negative pregnancy test at screening and agree to abstinence or the use of at least one highly effective form of contraception for the duration of the study, and for up to 90 days after the last dose of the study drug. * Males who are sexually active with women of childbearing potential who have not had a vasectomy must agree to use a barrier method of birth control during the study and for up to 90 days after the last dose of study drug. Males must also refrain from sperm donations during this time period. * Willing to continue current diet unchanged while participating in the study (unless specifically instructed to change diet during the study by the investigator). Exclusion Criteria: * Inability to tolerate oral medication. * A female who is pregnant or breastfeeding, or considering pregnancy. * Serious neuropsychiatric illness (for example, major depression) not currently under medical control, that in the opinion of the investigator or PTC, would interfere with the participant's ability to participate in the study or increase the risk of participation for that participant. * Past medical history and/or evidence of renal impairment and/or condition including moderate/severe renal insufficiency (glomerular filtration rate \[GFR\] \<60 milliliters \[mL\]/minute \[min\] min as estimated most recently during qualifying participation in a feeder study) and/or under care of a nephrologist. * Any other condition that in the opinion of the investigator or PTC, would interfere with the participant's ability to participate in the study or increase the risk of participation for that participant. * Requirement for concomitant treatment with any drug known to inhibit folate synthesis (for example, methotrexate). * Concomitant treatment with tetrahydrobiopterin (BH4) supplementation (for example, sapropterin dihydrochloride, KUVAN) or pegvaliase-pqpz (PALYNZIQ). Additional criteria for non-feeder participants who did not participate in a feeder study: * Gastrointestinal disease (such as irritable bowel syndrome, inflammatory bowel disease, chronic gastritis, and peptic ulcer disease, etc) that could affect the absorption of study drug. * History of gastric surgery, including Roux-en-Y gastric bypass surgery or an antrectomy with vagotomy, or gastrectomy. * History of allergies or adverse reactions to synthetic BH4 or sepiapterin. * Any clinically significant laboratory abnormality as determined by the investigator. * Any abnormal physical examination and/or laboratory findings indicative of signs or symptoms of renal disease, including calculated GFR \<60 milliliters (mL)/minute/1.73 square meter (m\^2). Confirmed diagnosis of a primary BH4 deficiency as evidenced by biallelic pathogenic mutations in 6-pyruvoyltetrahydropterin synthase, recessive GTP cyclohydrolase I, sepiapterin reductase, quinoid dihydropteridine reductase, or pterin-4-alphacarbinolamine dehydratase genes.

Locations (45)

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

Westmead Hospital

Westmead, New South Wales, Australia

PARC Clinical Research

Adelaide, South Australia, Australia

Royal Children's Hospital

Parkville, Victoria, Australia

Hospital de clinicas de Porto Alegre

Porto Alegre, Rio Grande do Sul, Brazil

Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo

Ribeirão Preto, São Paulo, Brazil

Metabolics and Genetics in Calgary (MAGIC) Clinic, Ltd.

Calgary, Alberta, Canada

McMaster Children's Hospital Hamilton Health Sciences

Hamilton, Ontario, Canada

The Hospital for Sick Children University of Toronto Adult Clinic: The Fred A Litwin Family Centre in Genetic Medicine University Health Network & Mt. Sinai Hospital

Toronto, Ontario, Canada

Fakultní nemocnice Královské Vinohrady Klinika dětí a dorostu Ambulance pro léčbu PKU a HPA

Prague, Czechia

Copenhagen University Hospital, Rigshospitalet

Copenhagen, Denmark

Hôpital Necker-Enfants Malades - Centre de Référence des Maladies Héréditaires du Métabolisme

Paris, France

Medical Genetics and Laboratory Diagnostics Center

Tbilisi, Georgia

University Children's Hospital Hamburg Eppendorf (Kinder-UKE) Klinik für Kinder- und Jugendmedizin (Kinder-UKE)

Hamburg, Germany

Universitätsklinikum Heidelberg / Zentrum für Kinder- und Jugendmedizin / Sektion für Neuropädiatrie & Stoffwechselmedizin

Heidelberg, Germany

Universitätsklinikum Münster

Münster, Germany

Azienda Ospedaliera-Universita Padova

Padua, Veneto, Italy

Department of Human Neuroscience, Child and Adolescent Neuropsychiatry, Policlinico Umberto I

Rome, Italy

PTC Clinical Site 1

Multiple Locations, Japan

PTC Clinical Site 2

Multiple Locations, Japan

PTC Clinical Site 3

Multiple Locations, Japan

PanAmerican Clinical Research

Guadalajara, Jalisco, Mexico

UMCG Beatrix Children's Hospital

Groningen, Netherlands

Pomorski Uniwersytet Medyczny w Szczecinie Centrum Wsparcia Badań Klinicznych

Szczecin, Poland

CENTRO HOSPITALAR UNIVERSITÁRIO LISBOA NORTE Hospital de Santa Maria,

Lisbon, Estremadura, Portugal

CENTRO HOSPITALAR UNIVERSITÁRIO LISBOA NORTE Hospital de Santa Maria

Lisbon, Estremadura, Portugal

Centro Hospitalar Universitário Do Porto, Epe

Porto, Portugal

Univerzitetni klinicni center Ljubljana

Ljubljana, Slovenia

Hospital Sant Joan de Déu

Barcelona, Esplugues de Llobregat, Spain

Hospital Universitario Ramón y Cajal

Madrid, Spain

Hospital Universitario Virgen del Rocío

Seville, Spain

Hacettepe University Medical Faculty

Altındağ, Ankara, Turkey (Türkiye)

Gazi Üniversitesi Tıp Fakültesi

Yenimahalle, Ankara, Turkey (Türkiye)

İstanbul Üniversitesi Cerrahpaşa Tıp Fakültesi

Fatih, Istanbul, Turkey (Türkiye)

Ege University Faculty of Medicine Children Hospital

Bornova, İzmir, Turkey (Türkiye)

Çukurova Üniversitesi Tıp Fakültesi Balcalı Hastanesi

Adana, Turkey (Türkiye)

Birmingham Children's Hospital NHS Foundation Trust

Birmingham, United Kingdom

UNIVERSITY HOSPITALS BIRMINGHAM NHS Foundation Trust

Birmingham, United Kingdom

Great Ormond Street Hospital

London, United Kingdom

Clinical Research Directory

A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria

Summary

Key Details

Conditions

Interventions

Eligibility Criteria

Locations (45)