Clinical trial NCT04081272: Effect of G6PD Deficiency on Red Blood Cell Storage
Official title: Effect of Glucose-6-phosphate Dehydrogenase Deficiency on Donor Red Blood Cell Storage
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: G6PD Deficiency
Keywords: transfusion
post-transfusion recovery
Lead sponsor: Columbia University
Sponsor class: OTHER
Collaborators: name: New York Blood Center
First posted: 2019-09-09
Enrollment: 40
Sex: MALE
Minimum age (years): 18
Maximum age (years): 70
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Healthy male volunteers will be screened for G6PD deficiency in order to identify 10 G6PD deficient and 30 matched normal individuals using a blood sample obtained from a finger-stick.

Brief summary: The proposed study will determine whether G6PD-deficient RBCs store differently than normal RBCs under standard blood banking conditions. The investigators plan to screen a large number of healthy male volunteers for G6PD deficiency in order to identify 10 G6PD deficient and 30 matched normal individuals using a blood sample obtained from a finger-stick. The identified individuals will then be asked to donate a unit of blood that will be stored for up to 42 days and various tests will be performed on these units during storage. At 6 weeks of storage a portion of the unit will be radioactively labeled and re-infused into the volunteer. Blood samples will be drawn before, during, and after the infusion to measure how well or poorly the red blood cells survive after transfusion.

Detailed description: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency, affecting approximately 400 million people world-wide. It manifests as red blood cell (RBC) destruction in response to oxidative stress, which can be precipitated by infection, and by the ingestion of certain medications and foods. The prevalence of G6PD deficiency varies among populations and is most commonly found in individuals from sub-Saharan Africa, the Mediterranean region, and south-east Asia. Although in most studies G6PD-deficient individuals have normal RBC survival at steady-state, this may vary based upon the G6PD variant present, and some individuals may have shortened RBC survival. While it is not routine practice to screen blood donors for G6PD deficiency, G6PD deficient donor RBCs may store more poorly than normal RBCs. In addition, the transfusion of stored G6PD-deficient RBCs may result in decreased RBC survival after transfusion compared to RBCs from normal donors.

Eligibility criteria: Inclusion Criteria:

* Male
* Weight greater than 110 pounds
* Hemoglobin greater than 11.5 g/dL
* African (e.g., Afro-American, Afro-Caribbean, Sub-Saharan), Asian, Hispanic, Middle Eastern, or Mediterranean (e.g., Italian, Greek) based on mother's ancestry
* English speaking

Exclusion Criteria:

* Presence of hemoglobin variant
* Ineligible for donation based on the New York Blood Center donor autologous questionnaire
* Systolic blood pressure \>180 or \<90 mm Hg, diastolic blood pressure \>100 or \<50 mm Hg
* Heart rate \<50 or \>100
* Temperature \>99.5°F prior to donation
* Temperature \>100.4°F or subjective feeling of illness prior to transfusion (this criterion is to avoid concurrent illness affecting post-transfusion measurements)
* Positive results on standard blood donor infectious disease testing

Primary outcomes:
measure: 24-hour post-transfusion red blood cell recovery
timeFrame: 24 hours
Secondary outcomes:
measure: In vitro hemolysis rate
timeFrame: 42 days
Other outcomes:
measure: Number of samples with metabolites detected
timeFrame: Pre-donation to 42 days after donation
Locations:
city: New York
country: United States
facility: Columbia University Irving Medical Center
state: New York
city: New York
country: United States
facility: New York Blood Center
state: New York
Study officials:
affiliation: Columbia University
name: Richard O Francis, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Francis RO, D'Alessandro A, Eisenberger A, Soffing M, Yeh R, Coronel E, Sheikh A, Rapido F, La Carpia F, Reisz JA, Gehrke S, Nemkov T, Thomas T, Schwartz J, Divgi C, Kessler D, Shaz BH, Ginzburg Y, Zimring JC, Spitalnik SL, Hod EA. Donor glucose-6-phosphate dehydrogenase deficiency decreases blood quality for transfusion. J Clin Invest. 2020 May 1;130(5):2270-2285. doi: 10.1172/JCI133530.