Pyruvate Kinase DeficiencyNCT04995315
Pyruvate Kinase Deficiency Global Longitudinal Registry Substudy of Protocol AG348-C-008
An observational study of Pyruvate Kinase Deficiency, run by Agios Pharmaceuticals, Inc. at 3 sites in 3 countries.
Trial summary
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). Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Pyruvate Kinase Deficiency
- How many people
- 13 participants
- Where
- 3 sitesin 3 countries
- Study dates
- 2 Jul 2021to 22 Sep 2023
- 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 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.
Who may be able to join
- Participant must be ≥18 years of age;
- Participant must be enrolled in Study AG348-C-008.
Who cannot join
None listed.
Trial locations and contacts
3 sites in 3 countries.
3 sites in 3 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 Substudy of Protocol AG348-C-008: Cognition in Participants With Pyruvate Kinase Deficiency
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).
- Conditions
- Pyruvate Kinase Deficiency
- Keywords
- Glycolytic enzymopathy, Congenital Nonspherocytic hemolytic anemia (CNSA), PKD
- Medical subject headings
- Pyruvate Kinase Deficiency of Red Cells, 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 | Participants will receive online user access to the CBB. Participants will complete 2 CBB assessments on Study Day 0 and Study Day 90. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Day 0, Day 90
Secondary outcomes (2)
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.
Measured: Day 0, Day 90
Percentage of Participants With Blood Transfusions Affecting Cognition, as Assessed by the Investigator
Measured: Day 90
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Aug 2021
- Study start2 Jul 2021
- Primary completion22 Sep 2023
- Study completion22 Sep 2023
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
- 13 participants (actual)
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
- NCT04995315
- Sponsor's protocol ID
- AG348-C-016
- Status last verified
- Oct 2023
- First submitted
- 13 Jul 2021
- Last updated
- 16 Oct 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 16 Oct 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pyruvate Kinase Deficiency Global Longitudinal Registry Substudy of Protocol AG348-C-008: Cognition in Participants With Pyruvate Kinase Deficiency
- ClinicalTrials.gov ID
- NCT04995315
- Acronym / sponsor ID
- AG348-C-016
- Conditions
- Pyruvate Kinase Deficiency
- Keywords
- Glycolytic enzymopathy, Congenital Nonspherocytic hemolytic anemia (CNSA), PKD
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 13 participants (actual)
- Lead sponsor
- Agios Pharmaceuticals, Inc.Industry (pharma, biotech, devices)
- Study start
- 2 Jul 2021 (actual)
- Primary completion
- 22 Sep 2023 (actual)
- Study completion
- 22 Sep 2023 (actual)
- First posted
- 6 Aug 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.
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).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- 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.
Key inclusion criteria (2 listed)
- Participant must be ≥18 years of age;
- Participant must be enrolled in Study AG348-C-008.
Key exclusion criteria (0 listed)
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 Over Time in Cogstate Brief Battery (CBB) Scores
Time frame: Day 0, Day 90
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.
2 secondary outcomes
CBB Scores of Participants as Compared to the Scores of Age-Matched Controls
Time frame: Day 0, Day 90
Percentage of Participants With Blood Transfusions Affecting Cognition, as Assessed by the Investigator
Time frame: Day 90
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Oct 2023.
- Individual participant dataSharing planned: No
Related trials for Pyruvate Kinase Deficiency
Enrolling by invitationPhase 4
A Study to Provide Access to Mitapivat for Participants Who Previously Participated in an Agios-Sponsored Mitapivat Study
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Active, not recruitingObservational study
Pyruvate Kinase Deficiency Global Longitudinal Registry
Pyruvate Kinase Deficiency
Active, not recruitingPhase 3
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
Pediatric Pyruvate Kinase Deficiency, Pediatric Hemolytic Anemia
Active, not recruitingPhase 3
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
High-Dose Vitamin C in G6PDA and Pyruvate Kinase Deficiency: A Safety Study
Pyruvate Kinase Deficiency, Glucose 6 Phosphate Dehydrogenase Deficiency
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.
3 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pyruvate Kinase Deficiency, run by Agios Pharmaceuticals, Inc. at 3 sites in 3 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 0 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: finished, as of the sponsor's last update on 16 Oct 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States, Italy, Netherlands. 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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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 Over Time in Cogstate Brief Battery (CBB) Scores (time frame: Day 0, Day 90). 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 16 Oct 2023.