Targeting Pyruvate kinase as a therapeUtic option in rare aneMiA - PUMA-Study

Targeting Pyruvate kinase as a therapeUtic option in rare aneMiA - PUMA-Study - PUMA-project

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON51728

Enrollment

155

Registered

2021-11-23

Start date

2022-07-14

Completion date

Unknown

Last updated

2026-03-16

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

anemia, red blood cell disease red blood cell disease

Interventions

Niet van toepassing

Eligibility

Age

16 Years to 64 Years

Inclusion criteria

Inclusion criteria: 1. Participant is diagnosed with one of following diseases: sickle cell disease, hereditary spherocytosis, hereditary xerocytosis, red blood cell enzymopathy, thalassemia, Diamond-Blackfan anemia, congenital dyserythropoietic anemia or myelodysplastic syndrome. 2. Participant (or legal guardian) is willing and able to give informed consent.

Exclusion criteria

Exclusion criteria: 1. Children (aged under 16 years).  2. Transfusion-dependence (defined as more than 12 transfusions a year).* 3. Recent transfusion (defined as within 3 months prior to enrolment).** 4. Other concomitant RBC diseases. 5. Currently receiving chemotherapeutics.  6. Currently receiving experimental treatment in the context of a clinical  trial.  * For thalassemia this will not be a criterion since we will also include  patients who are on chronic transfusion therapy. Since the severe patients will  be treated with blood transfusion. **For DBA, this will not be a criterion. As DBA is extremely rare, this  exclusion criterion may lead to insufficient eligible participants.

Design outcomes

Primary

Measure	Time frame
PK activity and thermostability.	—

Secondary

Measure	Time frame
General parameters: General hematological parameters, RBC morphology, PK protein levels, metabolic fingerprint (including levels of 2,3-DPG and ATP). Disease-specific parameters: oxygen gradient ektacytometry, intermediates of oxidative stress, oxygen affinity (p50), and microfluidic analysis (SCD); osmotic gradient ekatcytometry, intracellular ion homeostasis (e.g. Calcium levels), altered membrane health (e.g. band 3 phosphorylation), and oxygen affinity (p50) (SCD, HS, HX, enzymopathies, thalassemia); in-vitro erythroblast proliferation and differentiation, intermediates of oxidative stress (DBA, CDA, MDS). Clinical parameters (i.e., signs of organ damage, transfusion burden, medication history) in relation to PK activity and thermostability.	—

Measure

Time frame

General parameters: General hematological parameters, RBC morphology, PK protein levels, metabolic fingerprint (including levels of 2,3-DPG and ATP). Disease-specific parameters: oxygen gradient ektacytometry, intermediates of oxidative stress, oxygen affinity (p50), and microfluidic analysis (SCD); osmotic gradient ekatcytometry, intracellular ion homeostasis (e.g. Calcium levels), altered membrane health (e.g. band 3 phosphorylation), and oxygen affinity (p50) (SCD, HS, HX, enzymopathies, thalassemia); in-vitro erythroblast proliferation and differentiation, intermediates of oxidative stress (DBA, CDA, MDS). Clinical parameters (i.e., signs of organ damage, transfusion burden, medication history) in relation to PK activity and thermostability.

—

Countries

Netherlands

Contacts

Public ContactR. Wijk

Universitair Medisch Centrum Utrecht

r.vanwijk@umcutrecht.nl0887558483

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP) · Data processed: Mar 20, 2026