Clinical trial NCT04964323: Pyruvate Kinase (PK) Deficiency Global Longitudinal Registry: Patient-Reported Outcomes (PRO)
Official title: Pyruvate Kinase Deficiency Global Longitudinal Registry: Patient-Reported Outcomes
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Pyruvate Kinase Deficiency
Pyruvate Kinase Deficiency Anemia
Anemia
Anemia, Hemolytic
Keywords: Glycolytic enzymopathy
Congenital Nonspherocytic Hemolytic Anemia
PKD
CNSHA
Lead sponsor: Agios Pharmaceuticals, Inc.
Sponsor class: INDUSTRY
First posted: 2021-07-16
Enrollment: 15
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Participants will be recruited at multiple sites in North America and Europe.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Change from Baseline in Pyruvate Kinase Deficiency Diary (PKDD) Score
timeFrame: Baseline, up to Day 672
measure: Change from Baseline in Pyruvate Kinase Deficiency Impact Assessment (PKDIA) Score
timeFrame: Baseline, up to Day 672
measure: Change from Baseline in Work Productivity and Activity Impairment Questionnaire: Specific Health Problem (WPAI: SHP) 2.0 Score
timeFrame: Baseline, up to Day 672
measure: Change from Baseline in Functional Assessment of Cancer Therapy-Anemia (FACT-An)
timeFrame: Baseline, up to Day 672
Secondary outcomes:
Other outcomes:
Locations:
city: Boston
country: United States
facility: Massachusetts General Hospital
state: Massachusetts
city: Milan
country: Italy
facility: Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico
city: Utrecht
country: Netherlands
facility: Universitair Medisch Centrum Utrecht
city: Madrid
country: Spain
facility: Hospital Infantil Universitario Niño Jesus - PIN
city: London
country: United Kingdom
facility: Hammersmith Hospital
Study officials:
affiliation: Agios Pharmaceuticals, Inc.
name: Medical Affairs
role: STUDY_CHAIR
References: