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

NCT04995315 | Completed

• 1 other identifier: AG348-C-016
• Study Type: observational
• Target: 13
• Locations: 3 countries
• Sites: 3

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).

Conditions

Pyruvate Kinase Deficiency

Keywords

Glycolytic enzymopathy; Congenital Nonspherocytic hemolytic anemia (CNSA); PKD

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• CBB Scores of Participants as Compared to the Scores of Age-Matched Controls

  Day 0, Day 90

• Percentage of Participants With Blood Transfusions Affecting Cognition, as Assessed by the Investigator

  Day 90

Study Arms (1)

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.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

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

Sponsors & Collaborators

• Agios Pharmaceuticals, Inc.: lead

Study Sites (3)

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico

Milan, 20122, Italy

Location

Universitair Medisch Centrum Utrecht

Utrecht, 3508 GA, Netherlands

Location

MeSH Terms

Conditions

Pyruvate Kinase Deficiency of Red Cells; Anemia, Hemolytic, Congenital Nonspherocytic

Condition Hierarchy (Ancestors)

Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Medical Affairs

  Agios Pharmaceuticals, Inc.

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 13, 2021
• First Posted: August 6, 2021
• Study Start: July 2, 2021
• Primary Completion: September 22, 2023
• Study Completion: September 22, 2023
• Last Updated: October 16, 2023

Record last verified: 2023-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (1); IT (1); NL (1)