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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).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
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| 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 |
| 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. |
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Inclusion Criteria:
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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.
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| Name | Affiliation | Role |
|---|---|---|
| Medical Affairs | Agios Pharmaceuticals, Inc. | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Massachusetts General Hospital | Boston | Massachusetts | 02114 | United States | ||
| Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico |
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| ID | Term |
|---|---|
| C564858 | Pyruvate Kinase Deficiency of Red Cells |
| D000746 | Anemia, Hemolytic, Congenital Nonspherocytic |
| ID | Term |
|---|---|
| D000745 | Anemia, Hemolytic, Congenital |
| D000743 | Anemia, Hemolytic |
| D000740 | Anemia |
| D006402 | Hematologic Diseases |
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| Day 0, Day 90 |
| Percentage of Participants With Blood Transfusions Affecting Cognition, as Assessed by the Investigator | Day 90 |
| Milan |
| 20122 |
| Italy |
| Universitair Medisch Centrum Utrecht | Utrecht | 3508 GA | Netherlands |
| D006425 |
| Hemic and Lymphatic Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |