Pyruvate Kinase DeficiencyPKDNCT04964323
Pyruvate Kinase (PK) Deficiency Global Longitudinal Registry: Patient-Reported Outcomes (PRO)
An observational study of Pyruvate Kinase Deficiency and Pyruvate Kinase Deficiency Anemia, run by Agios Pharmaceuticals, Inc. at 5 sites in 5 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Pyruvate Kinase Deficiency, Pyruvate Kinase Deficiency Anemia, Anemia
- How many people
- 15 participants
- Where
- 5 sitesin 5 countries
- Study dates
- 2 Jul 2021to 30 Jun 2023
- How long will I take part?
- 96 Weeks
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Participants will be recruited at multiple sites in North America and Europe.
Who may be able to join
- Participant must be greater than or equal to (≥)18 years of age;
- Participant must be enrolled in Study AG348-C-008.
Who cannot join
- Participant is enrolled in an Agios-sponsored clinical study involving treatment with a pyruvate kinase activator.
Trial locations and contacts
5 sites in 5 countries.
5 sites in 5 countries
United States1 site
Massachusetts General Hospital
Boston, Massachusetts, 02114
Italy1 site
Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico
Milan, 20122
About this study
Official title: Pyruvate Kinase Deficiency Global Longitudinal Registry: Patient-Reported Outcomes
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.
Read the 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.
- Keywords
- Glycolytic enzymopathy, Congenital Nonspherocytic Hemolytic Anemia, PKD, CNSHA
- Medical subject headings
- Pyruvate Kinase Deficiency of Red Cells, Anemia, Anemia, Hemolytic, Anemia, Hemolytic, Congenital Nonspherocytic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| PK Deficiency Diagnosed | Participants previously diagnosed with PK deficiency in Study AG348-C-008 (NCT03481738), will receive routine clinical care. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: Baseline, up to Day 672
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Jul 2021
- Study start2 Jul 2021
- Primary completion30 Jun 2023
- Study completion30 Jun 2023
Why it stopped: Lack of enrollment and participant compliance with surveys.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pyruvate Kinase DeficiencyStudies of the same condition, open and under way.
- More trials run by Agios Pharmaceuticals, Inc.The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 15 participants (actual)
- Target duration
- 96 Weeks
Sponsor and investigators
- Lead sponsor
- Agios Pharmaceuticals, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Affairs, Study chair, Agios Pharmaceuticals, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04964323
- Sponsor's protocol ID
- AG348-C-015
- Acronym
- PKD
- Status last verified
- Sep 2023
- First submitted
- 13 Jul 2021
- Last updated
- 7 Sep 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Sep 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pyruvate Kinase Deficiency Global Longitudinal Registry: Patient-Reported Outcomes
- ClinicalTrials.gov ID
- NCT04964323
- Acronym / sponsor ID
- PKD / AG348-C-015
- Keywords
- Glycolytic enzymopathy, Congenital Nonspherocytic Hemolytic Anemia, PKD, CNSHA
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Lack of enrollment and participant compliance with surveys.
- Enrolment
- 15 participants (actual)
- Lead sponsor
- Agios Pharmaceuticals, Inc.Industry (pharma, biotech, devices)
- Study start
- 2 Jul 2021 (actual)
- Primary completion
- 30 Jun 2023 (actual)
- Study completion
- 30 Jun 2023 (actual)
- First posted
- 16 Jul 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 96 Weeks
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| PK Deficiency Diagnosed | – | –Participants previously diagnosed with PK deficiency in Study AG348-C-008 (NCT03481738), will receive routine clinical care. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Participants will be recruited at multiple sites in North America and Europe.
Key inclusion criteria (2 listed)
- Participant must be greater than or equal to (≥)18 years of age;
- Participant must be enrolled in Study AG348-C-008.
Key exclusion criteria (1 listed)
- Participant is enrolled in an Agios-sponsored clinical study involving treatment with a pyruvate kinase activator.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Change from Baseline in Pyruvate Kinase Deficiency Diary (PKDD) Score
Time frame: 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 Pyruvate Kinase Deficiency Impact Assessment (PKDIA) Score
Time frame: 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 Work Productivity and Activity Impairment Questionnaire: Specific Health Problem (WPAI: SHP) 2.0 Score
Time frame: 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 Functional Assessment of Cancer Therapy-Anemia (FACT-An)
Time frame: 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.
Results and safety
The study was stopped early (reason given: Lack of enrollment and participant compliance with surveys.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Sep 2023.
- Individual participant dataSharing planned: No
Related trials for Pyruvate Kinase Deficiency
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A Study to Provide Access to Mitapivat for Participants Who Previously Participated in an Agios-Sponsored Mitapivat Study
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Pyruvate Kinase Deficiency Global Longitudinal Registry
Pyruvate Kinase Deficiency
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A Study to Evaluate the Efficacy and Safety of Mitapivat in Pediatric Participants With Pyruvate Kinase Deficiency (PKD) Who Are Regularly Transfused, Followed by a 5-Year Extension Period
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A Study to Evaluate the Efficacy and Safety of Mitapivat in Pediatric Participants With Pyruvate Kinase Deficiency (PKD) Who Are Not Regularly Transfused, Followed by a 5-Year Extension Period
Pediatric Pyruvate Kinase Deficiency, Pediatric Hemolytic Anemia
Not yet recruitingPhase 1
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Medical Affairs study chair
Agios Pharmaceuticals, Inc.
5 sites in 5 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pyruvate Kinase Deficiency and Pyruvate Kinase Deficiency Anemia, run by Agios Pharmaceuticals, Inc. at 5 sites in 5 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 7 Sep 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States, Italy, Netherlands, Spain, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: Lack of enrollment and participant compliance with surveys.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change from Baseline in Pyruvate Kinase Deficiency Diary (PKDD) Score (time frame: Baseline, up to Day 672). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Sep 2023.