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 : January 30, 2020
This study is an observational (ie, non-interventional), longitudinal, multicenter, global registry for patients with pyruvate kinase (PK) deficiency, a rare non-spherocytic 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 assessments are strongly encouraged to enhance longitudinal understanding of PK deficiency; however, no specific assessments are set or 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 2027|
|Estimated Study Completion Date :||May 2027|
Patients diagnoses with PK Deficiency by PKLR genetic mutation analysis (either compound heterozygote or homozygous recessive) 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
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.|