Investigating the interplay between iron (overload) and erythropoiesis in rare hereditary anemias.

Recruiting

• Conditions: congenital anemia; rare hereditary anemia; 10038158

• Registration Number: NL-OMON49379
• Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 50

Inclusion Criteria

• Age > 12months
• No blood transfusion within the past 4 weeks
• Diagnosed with rare hereditary anemie, including sickle cell anemia,
betathalassemia,
spherocytosis, xerocytosis, pyruvate kinase deficiency (and other
enzyme defects)
Diamond- Blackfan Anemia, Congenital Dyserythropoietic Anemia.
• Parents/legal guardians (and child, depending on age) or adult patients have
given written
informed consent

Exclusion Criteria

• Age < 12 months
• Body weight below 10 kg
• Blood transfusion within past 4 weeks

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>• To investigate key-regulators and cellular determinants of iron overload in<br /><br>RHA<br /><br>• To investigate the role of ferroptosis in ineffective erythropoiesis, RBC<br /><br>survival and RBC maturation in RHA.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>• To investigate whether metabolomics can be used to study distinct and shared<br /><br>defects in iron homeostasis in rare hereditary anemias.<br /><br>• To investigate whether targeting hepcidin and/or ferroptosis can improve<br /><br>erythropoiesis and RBC defects. </p><br>