Pyruvate Kinase Deficiency Global Longitudinal Registry

Running, not enrolling

Conditions studied: Pyruvate Kinase Deficiency

In brief

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.

Key facts

Study ID

NCT03481738

Run by

Agios Pharmaceuticals, Inc.

People needed

500

Starts

2018-04-23

Expected to finish

2027-05-31

Last updated by the study team

2026-07-30

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

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.

Where it is running

• Arkansas Children's Hospital — Little Rock, Arkansas, United States
• University of Arkansas for Medical Sciences — Little Rock, Arkansas, United States
• Children's Hospital of Orange County — Orange, California, United States
• Stanford University Medical Center — Palo Alto, California, United States
• Children's Healthcare of Atlanta — Atlanta, Georgia, United States
• Massachusetts General Hospital — Boston, Massachusetts, United States
• Boston Children's Hospital — Boston, Massachusetts, United States
• UMass Memorial Medical Center — Worcester, Massachusetts, United States
• Children's Hospital of Michigan — Detroit, Michigan, United States
• Duke University Medical Center — Durham, North Carolina, United States
• Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States
• St Jude Children's Research Hospital — Memphis, Tennessee, United States
• Primary Children's Hospital — Salt Lake City, Utah, United States
• University of Vermont Medical Center — Burlington, Vermont, United States
• Saint Josephs Healthcare System — Hamilton, Ontario, Canada
• Toronto General Hospital — Toronto, Ontario, Canada
• St. Justine Hospital — Montreal, Quebec, Canada
• 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
• Phoenix Childrens Hospital — Phoenix, Arizona, United States

Full record on ClinicalTrials.gov

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