Pyruvate Kinase Deficiency Global Longitudinal Registry (PEAK Registry)
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|ClinicalTrials.gov Identifier: NCT03481738|
Recruitment Status : Recruiting
First Posted : March 29, 2018
Last Update Posted : May 25, 2023
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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.
|Condition or disease|
|Pyruvate Kinase Deficiency|
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||500 participants|
|Target Follow-Up Duration:||2 Years|
|Official Title:||Pyruvate Kinase Deficiency Global Longitudinal Registry|
|Actual Study Start Date :||April 23, 2018|
|Estimated Primary Completion Date :||May 30, 2027|
|Estimated Study Completion Date :||May 31, 2027|
Participants diagnosed with PK deficiency by the presence of 2 or more PKLR gene mutations as well as clinical features.
- Clinical Course of PK Deficiency [ Time Frame: 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.
- Severity of Disease [ Time Frame: 9 years ]To understand the prevalence, incidence, and severity of complications associated with PK deficiency.
- Disease Impact on Pregnancy [ Time Frame: 9 years ]To evaluate pregnancy outcomes.
- Clinical Management Assistance [ Time Frame: 9 years ]To provide a source of longitudinal data to assist physicians with clinical management of individual patients.
- Global Repository [ Time Frame: 9 years ]To act as a global repository for potential data from other properly consented PK deficiency-related studies to support aggregate and comparative analyses.
- Genetic [ Time Frame: 9 years ]To examine a possible correlation between PKLR genotype and PK deficiency clinical phenotype.
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
|Ages Eligible for Study:||Child, Adult, Older Adult|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
|Sampling Method:||Non-Probability Sample|
- 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03481738
|Contact: Medical Information||833-228-8474||MedInfo@agios.com|
|Study Chair:||Eva Gallagher, VP, Medical Affairs||Agios Pharmaceuticals, Inc.|
|Responsible Party:||Agios Pharmaceuticals, Inc.|
|Other Study ID Numbers:||
|First Posted:||March 29, 2018 Key Record Dates|
|Last Update Posted:||May 25, 2023|
|Last Verified:||May 2023|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||Undecided|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
Congenital Nonspherocytic hemolytic anemia (CNSA)
Anemia, Hemolytic, Congenital Nonspherocytic
Pyruvate Metabolism, Inborn Errors
Anemia, Hemolytic, Congenital
Genetic Diseases, Inborn
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors