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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 : March 29, 2018
Sponsor:
Information provided by (Responsible Party):
Agios Pharmaceuticals, Inc.

Brief Summary:

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

  Show Detailed Description

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
Estimated Study Start Date : March 2018
Estimated Primary Completion Date : March 2026
Estimated Study Completion Date : March 2026


Group/Cohort
PKD Diagnosed
Patients diagnoses with PK Deficiency by PKLR genetic mutation analysis (either compound heterozygote or homozygous recessive) as well as clinical features



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



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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 PKLR gene mutations (either compound heterozygote or homozygous recessive).
  • The participant or the parent/guardian of the participant must be willing and able to give written informed consent and/or assent

Exclusion Criteria:

  • Participants who are actively enrolled in an Agios-sponsored clinical study involving treatment with a PK activator are not eligible to enroll in the Registry until after they have completed or withdrawn from that clinical study

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

Locations
United States, Pennsylvania
Children's Hospital of Pennslyvania Recruiting
Philadelphia, Pennsylvania, United States, 19104
Sponsors and Collaborators
Agios Pharmaceuticals, Inc.
Investigators
Study Chair: Christiane Langer, MD Agios Pharmaceuticals, Inc.

Additional Information:
Responsible Party: Agios Pharmaceuticals, Inc.
ClinicalTrials.gov Identifier: NCT03481738     History of Changes
Other Study ID Numbers: AG348-C-008
First Posted: March 29, 2018    Key Record Dates
Last Update Posted: March 29, 2018
Last Verified: March 2018
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

Keywords provided by Agios Pharmaceuticals, Inc.:
Glycolytic enzymopathy
Congenital Non-spherocytic hemolytic anemia (CNSA)

Additional relevant MeSH terms:
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