Pyruvate Kinase Deficiency Global Longitudinal Registry Substudy of Protocol AG348-C-008

Pyruvate Kinase Deficiency Global Longitudinal Registry Substudy of Protocol AG348-C-008: Cognition in Participants With Pyruvate Kinase Deficiency

This is a substudy of Study AG348-C-008, an observational, longitudinal, multicenter, global registry that aims to better understand the longitudinal clinical implications of pyruvate kinase deficiency (PK deficiency). The primary purpose of this study is to describe the cognition of participants with PK deficiency, as objectively measured by the Cogstate Brief Battery (CBB).

Study Overview

• Status: Completed
• Conditions: Pyruvate Kinase Deficiency

• Study Type: Observational
• Enrollment (Actual): 13

Contacts and Locations

Study Locations

• Italy
  • Milan, Italy, 20122
    • Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
• Netherlands
  • Utrecht, Netherlands, 3508 GA
    • Universitair Medisch Centrum Utrecht
• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02114
      • Massachusetts General Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Participants with PK deficiency will be enrolled in at least 3 sites also participating in Study AG348-C-008. If any participants are unable to complete the Day 0 CBB assessments, additional participants may be enrolled.

Description

Inclusion Criteria:

• Participant must be ≥18 years of age;
• Participant must be enrolled in Study AG348-C-008.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
PK Deficiency Diagnosed Participants; Participants will receive online user access to the CBB. Participants will complete 2 CBB assessments on Study Day 0 and Study Day 90.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change Over Time in Cogstate Brief Battery (CBB) Scores	CBB is a series of brief computerized assessments used to evaluate 4 major cognitive domains: psychomotor speed, attention/vigilance, visual learning, and working memory. If the CBB score falls between -10 to +10, it is considered normal. In Cogstate scoring 0 could be considered as performing in the average range, a negative score means below-average performance, and a positive score means above-average performance. A positive change in scores indicates slightly better performance.	Day 0, Day 90

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
CBB Scores of Participants as Compared to the Scores of Age-Matched Controls	CBB is a series of brief computerized assessments used to evaluate 4 major cognitive domains: psychomotor speed, attention/vigilance, visual learning, and working memory. An age-standardized score of ≤-1 on a test will be defined as abnormal. Cognitive impairment on the day of testing will be defined as ≥2 tests with abnormal performance.	Day 0, Day 90
Percentage of Participants With Blood Transfusions Affecting Cognition, as Assessed by the Investigator		Day 90

Collaborators and Investigators

• Sponsor: Agios Pharmaceuticals, Inc.
• Investigators: Study Chair: Medical Affairs, Agios Pharmaceuticals, Inc.

Study record dates

Study Major Dates

• Study Start (Actual): July 2, 2021
• Primary Completion (Actual): September 22, 2023
• Study Completion (Actual): September 22, 2023

Study Registration Dates

• First Submitted: July 13, 2021
• First Submitted That Met QC Criteria: August 4, 2021
• First Posted (Actual): August 6, 2021

Study Record Updates

• Last Update Posted (Actual): October 16, 2023
• Last Update Submitted That Met QC Criteria: October 13, 2023
• Last Verified: October 1, 2023

More Information

Terms related to this study

• Keywords: PKD; Glycolytic enzymopathy; Congenital Nonspherocytic hemolytic anemia (CNSA)
• Additional Relevant MeSH Terms: Metabolic Diseases; Hematologic Diseases; Genetic Diseases, Inborn; Anemia; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia, Hemolytic, Congenital Nonspherocytic; Pyruvate Metabolism, Inborn Errors
• Other Study ID Numbers: AG348-C-016

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No