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Pyruvate Kinase Deficiency Global Longitudinal Registry (PEAK Registry)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03481738
Recruitment Status : Recruiting
First Posted : March 29, 2018
Last Update Posted : May 25, 2023
Sponsor:
Information provided by (Responsible Party):
Agios Pharmaceuticals, Inc.

Study Description
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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.


Condition or disease
Pyruvate Kinase Deficiency

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Study Design
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 500 participants
Observational Model: Cohort
Time Perspective: Prospective
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

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
PKD Diagnosed
Participants diagnosed with PK deficiency by the presence of 2 or more PKLR gene mutations as well as clinical features.


Outcome Measures
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Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. Severity of Disease [ Time Frame: 9 years ]
    To understand the prevalence, incidence, and severity of complications associated with PK deficiency.

  2. Disease Impact on Pregnancy [ Time Frame: 9 years ]
    To evaluate pregnancy outcomes.

  3. Clinical Management Assistance [ Time Frame: 9 years ]
    To provide a source of longitudinal data to assist physicians with clinical management of individual patients.

  4. 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.


Other Outcome Measures:
  1. Genetic [ Time Frame: 9 years ]
    To examine a possible correlation between PKLR genotype and PK deficiency clinical phenotype.


Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients will be recruited or referred by physicians who treat hemolytic anemias at approximately 60 sites in approximately 20 countries.
Criteria

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.
Contacts and Locations
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Information from the National Library of Medicine

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


Contacts
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Contact: Medical Information 833-228-8474 MedInfo@agios.com

Locations
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Sponsors and Collaborators
Agios Pharmaceuticals, Inc.
Investigators
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Study Chair: Eva Gallagher, VP, Medical Affairs Agios Pharmaceuticals, Inc.
More Information
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Additional Information:

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Responsible Party: Agios Pharmaceuticals, Inc.
ClinicalTrials.gov Identifier: NCT03481738    
Other Study ID Numbers: AG348-C-008
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

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Agios Pharmaceuticals, Inc.:
Glycolytic enzymopathy
Congenital Nonspherocytic hemolytic anemia (CNSA)
PKD
Additional relevant MeSH terms:
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Anemia, Hemolytic, Congenital Nonspherocytic
Pyruvate Metabolism, Inborn Errors
Anemia, Hemolytic, Congenital
Anemia, Hemolytic
Anemia
 Hematologic Diseases
Genetic Diseases, Inborn
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Metabolic Diseases