Congenital Hemolytic and Dyserythropoietic Anemias
ConditionHemolytic Anemia
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorChildren's Hospital Medical Center, Cincinnati
About this trial
The main reason for this research study is to further understand how some red blood cells are formed incorrectly or they have an abnormal metabolism in a way that they break easier in the circulation or during their passage through the spleen.
Participants and/or family members diagnosed with non-immune hemolytic anemia due to a genetic disorder, such as, hemoglobin disorder, erythrocyte membrane skeleton disorders (e.g. spherocytosis, elliptocytosis, or stomatocytosis) or hydration defect (e.g. xerocytosis, overhydrocytosis) or red blood cell (RBC) enzyme disorders, or with a congenital dyserythropoietic anemia (CDA) will be asked to participate.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Patients who have been diagnosed, by medical history and review of the laboratory data obtained for clinical care, including CBC/reticulocyte count and review of the blood smear, with a hereditary hemolytic anemia, where the genetic etiology is challenging to be identified.
Parents and/or grandparents of children that have the above diagnosis. The parents and/or grandparents may or may not have non-immune hemolytic anemia (these will serve as positive or negative inherent controls)
Disqualifiers
None
Trial population
If medical history and review of the laboratory data obtained for clinical care, including CBC/reticulocyte count and review of the blood smear, indicates that the patient has a non-immune hemolytic anemia that may be due to a hemoglobinopathy, a red cell membrane skeleton or enzyme disorder, then the patients and their families will be asked for their participation in the study. The rare patients suspected to have congenital dyserythropoietic anemia will also be eligible for this study.
Trial design
Design model
Other
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
Percentage of Participants with an Established Molecular Diagnosis of a Red Blood Cell Disorder
The proportion of participants in whom a molecular diagnosis is established through genetic and laboratory evaluation, defined as identification of pathogenic or likely pathogenic variants associated with hereditary hemolytic anemia (including hemoglobin disorders, erythrocyte membrane disorders, and red blood cell enzymopathies) or dyserythropoietic anemia.
Time frame
From enrollment to completion of molecular and diagnostic evaluation (approximately 12-24 months)Sponsors and contacts
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Source ClinicalTrials.gov