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

Completed

• Conditions: Pyruvate Kinase Deficiency

• Registration Number: NCT04995315
• Lead Sponsor: Agios Pharmaceuticals, Inc.

Brief Summary

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).

Detailed Description

Not available

Study Timeline

• Study Start: 2021-07-02
• Study First Submitted: 2021-07-13
• Study First Submitted QC: 2021-08-04
• Study First Posted: 2021-08-06
• Primary Completion: 2023-09-22
• Study Completion: 2023-09-22
• Status Verified: 2023-10
• Last Update Submitted: 2023-10-13
• Last Update Posted: 2023-10-16

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 13

Inclusion Criteria

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

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Change Over Time in Cogstate Brief Battery (CBB) Scores	Day 0, Day 90	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.

Secondary Outcome Measures

Name	Time	Method
CBB Scores of Participants as Compared to the Scores of Age-Matched Controls	Day 0, Day 90	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.
Percentage of Participants With Blood Transfusions Affecting Cognition, as Assessed by the Investigator	Day 90

Trial Locations

Locations (3)

Universitair Medisch Centrum Utrecht; 🇳🇱 Utrecht, Netherlands

Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico; 🇮🇹 Milan, Italy

Massachusetts General Hospital; 🇺🇸 Boston, Massachusetts, United States