Pyruvate Kinase (PK) Deficiency Global Longitudinal Registry: Patient-Reported Outcomes (PRO)

Terminated

• Conditions: Anemia, Hemolytic; Pyruvate Kinase Deficiency; Pyruvate Kinase Deficiency Anemia; Anemia

• Registration Number: NCT04964323
• Lead Sponsor: Agios Pharmaceuticals, Inc.

Brief Summary

The primary objective of this study is to understand and characterize the health-related quality of life (HRQoL) and disease burden of adult participants with PK deficiency receiving routine clinical care. This study is an observational (i.e., noninterventional), longitudinal, multicenter, global registry for participants with PK deficiency, a rare nonspherocytic hemolytic anemia.

This study will be open for enrollment for 2 years and all enrolled participants will be followed prospectively for up to 96 weeks.

Data will be collected from participants who have provided informed consent and authorization pursuant to applicable laws and regulations.

Detailed Description

Participants aged ≥18 years and previously enrolled in Study AG348-C-008 (NCT03481738) will be eligible to participate in this study. Data will be submitted via electronic patient-reported outcomes (ePRO) application.

All data collection efforts will abide by this protocol and be prospectively disclosed in the study informed consent. This study, with the appropriate participant (and or parent/guardian) consent/assent, may incorporate retrospective data from other properly consented studies done for the purpose of examining the longitudinal natural history of PK deficiency.

Study Timeline

• Study Start: 2021-07-02
• Study First Submitted: 2021-07-13
• Study First Submitted QC: 2021-07-13
• Study First Posted: 2021-07-16
• Primary Completion: 2023-06-30
• Study Completion: 2023-06-30
• Status Verified: 2023-09
• Last Update Submitted: 2023-09-05
• Last Update Posted: 2023-09-07

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 15

Inclusion Criteria

• Participant must be greater than or equal to (≥)18 years of age;
• Participant must be enrolled in Study AG348-C-008.

Exclusion Criteria

• Participant is enrolled in an Agios-sponsored clinical study involving treatment with a pyruvate kinase activator.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Change from Baseline in Pyruvate Kinase Deficiency Diary (PKDD) Score	Baseline, up to Day 672	The PKDD is a 7-item measure of the core signs and symptoms of PK deficiency. The score range is 25 to 76, with higher scores indicating a higher disease burden.
Change from Baseline in Work Productivity and Activity Impairment Questionnaire: Specific Health Problem (WPAI: SHP) 2.0 Score	Baseline, up to Day 672	WPAI:SHP is a 6-question participant-rated questionnaire to determine the amount of absenteeism, presenteeism, work productivity loss, and daily activity impairment attributable to PK deficiency for a period of 7 days prior to each visit. It yields 4 sub-scores: work time missed (absenteeism), impairment while working (presenteeism or reduced on-the-job effectiveness), overall work impairment (work productivity loss or absenteeism plus presenteeism) and activity impairment (daily activity impairment). These sub-scores are transformed to impairment percentages (range from 0 to 100), with higher numbers indicating greater impairment and less productivity.
Change from Baseline in Pyruvate Kinase Deficiency Impact Assessment (PKDIA) Score	Baseline, up to Day 672	The PKDIA is a 12-item measure of the impacts of PK deficiency on patients' HRQoL. The score range is 30 to 76, with higher scores indicating a higher disease burden.
Change from Baseline in Functional Assessment of Cancer Therapy-Anemia (FACT-An)	Baseline, up to Day 672	FACT-An is composed of five subscales: Physical Well-Being \[score range 0-28\], Social/Family Well-Being \[score range 0-28\], Emotional Well-Being \[score range 0-24\], and Functional Well-Being \[score range 0-28\] and specific questions concerning anemia \[score range 0-80\]. The score at each item is summed. The sum is multiplied by the number of items in the subscale and then divided by the number of items answered. This produces the subscale score. The subscale scores are added to derive a total score \[score range 0-188\]. A higher score indicates better quality of life.

Trial Locations

Locations (5)

Universitair Medisch Centrum Utrecht; 🇳🇱 Utrecht, Netherlands

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

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

Hammersmith Hospital; 🇬🇧 London, United Kingdom

Hospital Infantil Universitario Niño Jesus - PIN; 🇪🇸 Madrid, Spain