Pyruvate Kinase Deficiency Global Longitudinal Registry
PEAK Registry
1 other identifier
observational
500
16 countries
52
Brief 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Apr 2018
Longer than P75 for all trials
52 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
March 22, 2018
CompletedFirst Posted
Study publicly available on registry
March 29, 2018
CompletedStudy Start
First participant enrolled
April 23, 2018
CompletedPrimary Completion
Last participant's last visit for primary outcome
May 31, 2027
ExpectedStudy Completion
Last participant's last visit for all outcomes
May 31, 2027
April 23, 2026
April 1, 2026
9.1 years
March 22, 2018
April 22, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Clinical Course of PK Deficiency
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.
9 years
Secondary Outcomes (4)
Severity of Disease
9 years
Disease Impact on Pregnancy
9 years
Clinical Management Assistance
9 years
Global Repository
9 years
Other Outcomes (1)
Genetic
9 years
Study Arms (1)
PKD Diagnosed
Participants diagnosed with PK deficiency by the presence of 2 or more PKLR gene mutations as well as clinical features.
Eligibility Criteria
Patients will be recruited or referred by physicians who treat hemolytic anemias at approximately 60 sites in approximately 20 countries.
You may qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (52)
Phoenix Childrens Hospital
Phoenix, Arizona, 85016, United States
Arkansas Children's Hospital
Little Rock, Arkansas, 72202, United States
University of Arkansas for Medical Sciences
Little Rock, Arkansas, 72205, United States
Children's Hospital of Orange County
Orange, California, 92868, United States
Stanford University Medical Center
Palo Alto, California, 94304, United States
Children's Healthcare of Atlanta
Atlanta, Georgia, 30342, United States
Massachusetts General Hospital
Boston, Massachusetts, 02114, United States
Boston Children's Hospital
Boston, Massachusetts, 02115, United States
UMass Memorial Medical Center
Worcester, Massachusetts, 01655-0002, United States
Children's Hospital of Michigan
Detroit, Michigan, 48201, United States
Duke University Medical Center
Durham, North Carolina, 27710, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104, United States
St Jude Children's Research Hospital
Memphis, Tennessee, 38105, United States
Primary Children's Hospital
Salt Lake City, Utah, 84113, United States
University of Vermont Medical Center
Burlington, Vermont, 05401, United States
Saint Josephs Healthcare System
Hamilton, Ontario, L8N 4A6, Canada
Toronto General Hospital
Toronto, Ontario, M5G 2C4, Canada
St. Justine Hospital
Montreal, Quebec, H3T 1C5, Canada
Fakultni nemocnice Olomouc
Olomouc, 779 00, Czechia
Ustav hematologie a krevni transfuze
Prague, 128 20, Czechia
Fakultni nemocnice v Motole
Prague, 150 06, Czechia
Copenhagen University Hospital
Herlev, 2730, Denmark
Hopital Necker
Paris, 75743, France
Charite - Universitatsmedizin Berlin
Berlin, 13353, Germany
Evangelisches Krankenhaus Bielefeld gGmbH
Bielefeld, 33617, Germany
Universitatsklinikum Heidelberg
Heidelberg, 69120, Germany
Kinder- und Jugendarztpraxis
Munich, 81377, Germany
Universitatsklinikum Wurzburg
Würzburg, 97080, Germany
St James's Hospital
Dublin, D08 NHY1, Ireland
Presidio Ospedaliero di Pescara
Pescara, Abruzzo, 65125, Italy
AOU dell'Universita degli Studi della Campania Luigi Vanvitelli
Naples, Campania, Italy
E O Ospedali Galliera
Genoa, Liguria, 16128, Italy
Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
Milan, 20122, Italy
Ospedale S Eugenio
Roma, 144, Italy
Universitair Medisch Centrum Utrecht
Utrecht, 3508 GA, Netherlands
Centro Hospitalar E Universitario de Coimbra EPE
Coimbra, 3041-853, Portugal
Centro Hospitalar Lisboa Central- Hospital Dona Estefania
Lisbon, 1169-045, Portugal
Centro Hospitalar de Vila Nova de Gaia / Espinho E.P.E
Porto, 4200-072, Portugal
The Catholic University of Korea, Seoul St. Mary's Hospital
Seoul, South Korea
Hospital Universitario Germans Trias i Pujol
Badalona, Barcelona, 08916, Spain
Hospital Sant Joan de Deu - PIN
Esplugues de Llobregat, Barcelona, 08950, Spain
Hospital Universitario Vall d'Hebron - PPDS
Barcelona, 08035, Spain
Hospital de La Santa Creu i Sant Pau
Barcelona, 8041, Spain
Hospital Infantil Universitario Nino Jesus
Madrid, 28009, Spain
Hospital Universitario La Paz
Madrid, 28046, Spain
Hospital de Tortosa Verge de la Cinta
Tortosa, 43500, Spain
Centre Hospitalier Universitaire Vaudois
Lausanne, CH 1011, Switzerland
Siriraj Hospital Mahidol University
Bangkok, Thailand
Hacettepe University Medical Faculty
Ankara, Turkey (Türkiye)
Hammersmith Hospital
London, London, City of, W12 0HS, United Kingdom
Kings College Hospital
London, SE5 9RS, United Kingdom
The Newcastle Upon Tyne Hospitals NHS Foundation Trust
Newcastle upon Tyne, NE1 4LP, United Kingdom
Related Publications (1)
Grace RF, van Beers EJ, Vives Corrons JL, Glader B, Glenthoj A, Kanno H, Kuo KHM, Lander C, Layton DM, Pospisilova D, Viprakasit V, Li J, Yan Y, Boscoe AN, Bowden C, Bianchi P. The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design. BMJ Open. 2023 Mar 23;13(3):e063605. doi: 10.1136/bmjopen-2022-063605.
PMID: 36958777DERIVED
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- STUDY CHAIR
Eva Gallagher, VP, Medical Affairs
Agios Pharmaceuticals, Inc.
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Target Duration
- 2 Years
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
March 22, 2018
First Posted
March 29, 2018
Study Start
April 23, 2018
Primary Completion (Estimated)
May 31, 2027
Study Completion (Estimated)
May 31, 2027
Last Updated
April 23, 2026
Record last verified: 2026-04