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

NCT04964323 | Terminated

• 1 other identifier: AG348-C-015
• Study Type: observational
• Target: 15
• Locations: 5 countries
• Sites: 5

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.

Conditions

Pyruvate Kinase Deficiency; Pyruvate Kinase Deficiency Anemia; Anemia; Anemia, Hemolytic

Keywords

Glycolytic enzymopathy; Congenital Nonspherocytic Hemolytic Anemia; PKD; CNSHA

Outcome Measures

Primary Outcomes (4)

• Change from Baseline in Pyruvate Kinase Deficiency Diary (PKDD) Score

  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.

  Baseline, up to Day 672

• Change from Baseline in Pyruvate Kinase Deficiency Impact Assessment (PKDIA) Score

  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.

  Baseline, up to Day 672

• Change from Baseline in Work Productivity and Activity Impairment Questionnaire: Specific Health Problem (WPAI: SHP) 2.0 Score

  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.

  Baseline, up to Day 672

• Change from Baseline in Functional Assessment of Cancer Therapy-Anemia (FACT-An)

  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.

  Baseline, up to Day 672

Study Arms (1)

PK Deficiency Diagnosed

Participants previously diagnosed with PK deficiency in Study AG348-C-008 (NCT03481738), will receive routine clinical care.

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 will be recruited at multiple sites in North America and Europe.

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Agios Pharmaceuticals, Inc.: lead

Study Sites (5)

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

Hospital Infantil Universitario Niño Jesus - PIN

Madrid, 28009, Spain

Location

Hammersmith Hospital

London, W12 0HS, United Kingdom

Location

MeSH Terms

Conditions

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

Condition Hierarchy (Ancestors)

Hematologic Diseases; Hemic and Lymphatic Diseases; Anemia, Hemolytic, Congenital; 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
• Target Duration: 96 Weeks
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 13, 2021
• First Posted: July 16, 2021
• Study Start: July 2, 2021
• Primary Completion: June 30, 2023
• Study Completion: June 30, 2023
• Last Updated: September 7, 2023

Record last verified: 2023-09

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1); NL (1); ES (1); US (1); GB (1)