Pyruvate Kinase Deficiency Global Longitudinal Registry

NCT03481738 · tracked via the Priya Life Science UK tracker

Sponsor

Agios Pharmaceuticals, Inc.

Phase

Observational

Started

2018-04-23

Last updated

2026-08-27

Condition(s) studied

Pyruvate Kinase Deficiency

Study summary

This study is an observational (ie, noninterventional), longitudinal, multicenter, global registry for patients with pyruvate kinase (PK) deficiency, a rare nonspherocytic hemolytic anemia.

This Registry will be open for enrollment for 7 years and all enrolled participants will be followed prospectively for a minimum of 2 years, and up to 9 years.

Data will be collected from participating Registry Physicians, participants, and, where appropriate, parents/guardians who have provided informed consent or assent (where relevant) and authorization pursuant to applicable laws and regulations.

Data should include demographic, clinical, and treatment data; and other data of relevance to the management of patients with PK deficiency. Annual chart review and data entry are expected in order to enhance longitudinal understanding of PK deficiency; however, no specific protocol schedule of assessment is required by this Registry protocol.

Eligibility

Sex

ALL

Min age

—

Max age

—

Healthy volunteers

Inclusion Criteria: * Participants of all ages with a confirmed diagnosis of PK deficiency via genetic testing are eligible to enroll; * Participants will be considered for enrollment on the basis of clinical features consistent with PK deficiency together with the presence of 2 or more PKLR gene mutations. For novel or indeterminate PKLR gene mutations, participants will be deemed eligible if, in the opinion of the investigator, the reported PKLR gene mutations are sufficient to support a diagnosis of PK deficiency; * The participant or the parent/guardian of the participant must be willing and able to give written informed consent and/or assent. E-consent or remote consent may be utilized where permissible as applicable if country regulations and site policies allow.

Primary outcome measure(s)

Clinical Course of PK Deficiency — 9 years
To develop an understanding of the longitudinal clinical implications of PK deficiency, including disease natural history, treatments and outcomes, and variability in clinical care and disease burden.

Trial sites (52)

Facility	City	Region
Phoenix Childrens Hospital	Phoenix	Arizona
Arkansas Children's Hospital	Little Rock	Arkansas
University of Arkansas for Medical Sciences	Little Rock	Arkansas
Children's Hospital of Orange County	Orange	California
Stanford University Medical Center	Palo Alto	California
Children's Healthcare of Atlanta	Atlanta	Georgia
Massachusetts General Hospital	Boston	Massachusetts
Boston Children's Hospital	Boston	Massachusetts
UMass Memorial Medical Center	Worcester	Massachusetts
Children's Hospital of Michigan	Detroit	Michigan
Duke University Medical Center	Durham	North Carolina
Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
St Jude Children's Research Hospital	Memphis	Tennessee
Primary Children's Hospital	Salt Lake City	Utah
University of Vermont Medical Center	Burlington	Vermont
Saint Josephs Healthcare System	Hamilton	Ontario
Toronto General Hospital	Toronto	Ontario
St. Justine Hospital	Montreal	Quebec
Fakultni nemocnice Olomouc	Olomouc	Czechia
Ustav hematologie a krevni transfuze	Prague	Czechia
Fakultni nemocnice v Motole	Prague	Czechia
Copenhagen University Hospital	Herlev	Denmark
Hopital Necker	Paris	France
Charite - Universitatsmedizin Berlin	Berlin	Germany
Evangelisches Krankenhaus Bielefeld gGmbH	Bielefeld	Germany
Universitatsklinikum Heidelberg	Heidelberg	Germany
Kinder- und Jugendarztpraxis	Munich	Germany
Universitatsklinikum Wurzburg	Würzburg	Germany
St James's Hospital	Dublin	Ireland
Presidio Ospedaliero di Pescara	Pescara	Abruzzo
AOU dell'Universita degli Studi della Campania Luigi Vanvitelli	Naples	Campania
E O Ospedali Galliera	Genoa	Liguria
Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	Milan	Italy
Ospedale S Eugenio	Roma	Italy
Universitair Medisch Centrum Utrecht	Utrecht	Netherlands
Centro Hospitalar E Universitario de Coimbra EPE	Coimbra	Portugal
Centro Hospitalar Lisboa Central- Hospital Dona Estefania	Lisbon	Portugal
Centro Hospitalar de Vila Nova de Gaia / Espinho E.P.E	Porto	Portugal
The Catholic University of Korea, Seoul St. Mary's Hospital	Seoul	South Korea
Hospital Universitario Germans Trias i Pujol	Badalona	Barcelona

+ 12 more sites — see the full list on the official registry below.

More Agios Pharmaceuticals, Inc. trials in the UK

A Study Evaluating the Efficacy and Safety of Mitapivat in Participants With Transfusion-Dependent Alpha- or Beta-Thalassemia (α- or β-TDT) Active, not recruiting

A Study Evaluating the Efficacy and Safety of Mitapivat (AG-348) in Participants With Sickle Cell Disease (RISE UP) Active, not recruiting

A Dose-Finding Study of Tebapivat to Assess Efficacy, and Safety in Participants With Sickle Cell Disease (SCD) Active, not recruiting

A Study to Evaluate the Efficacy and Safety of Mitapivat in Pediatric Participants With Pyruvate Kinase Deficiency (PKD) Who Are Regularly Transfused, Followed by a 5-Year Extension Period Active, not recruiting

A Study to Determine the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of AG-348 in Adult Participants With Non-transfusion-dependent Thalassemia Active, not recruiting

Other trials for the same condition

A Study to Provide Access to Mitapivat for Participants Who Previously Participated in an Agios-Sponsored Mitapivat Study Enrolling by invitation

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT03481738 on ClinicalTrials.gov ↗ ← All trials in the UK