Sickle Cell Disease, Thalassemia
Conditions
Interventions
Blood draw, Neurocognitive tests, infusion placed. ECG leads or pulse unit placed, 15 minutes structural MRI, 15 min Functional MRI pre-ACZ, administration of ACZ, 15 min ASL assesses time course, 15
Sponsors
AMC
Eligibility
Inclusion criteria
Inclusion criteria: Patient group: Sickle cell disease, Thalassemia major, thalassemia intermedia, and HbH disease 18 years of age or older Informed consent Control Group: Either AS or AA haemogobin 18 years of age or older Informed consent
Exclusion criteria
Exclusion criteria: Patient group: Hospitalization in the past month for any reason Inability of the patient to provide informed consent Contraindications for MRI, such as claustrophobia or the presence of metal in the body Sickle cell crisis at the moment of participation up to one month prior to participation History of cerebral pathology that comprimized measeurements, such as cerebral palsy, brain tumour, meningitis, overt infrarct Brain surgery performed in the last 3 months ACZ contraindications Severe liver, heart of renal dysfunction (clearance <10 mL/min) Allgergy to sulphonamide Pregnant or breastfeeding Use of phenytoin, procaïne or acetylsacylic acid Risk of hypokalaemia Addison's disease Severe asthma or emphysema Control Group: Any known chronic illness that may compromise subject safety or data integrity. Vascular risk factors Hypercholesterolemia Contraindications for MRI Contraindications for ACZ Developmental delay, stroke, seizure disorder, or neurological conditions other than simple migraine inability to cooperate with MRI examinations Diabetes Uncontrolled hypertension or history of hypertension
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| relationship between CVR, CB, and vascular/inflammatory markers Co-localization of white matter damage and regions of low CVR Global and regional rsponse of CVR to simple trnasfusions, exchange transfusions and hydroxyurea. | — |
Secondary
| Measure | Time frame |
|---|---|
| Relationship between neurcognitive performance and white matter damage Sex differences in baseline CVR and response to interventions Relationship between haemoglobin genotype and CVR | — |
Contacts
Public ContactEdith van Dijkman
Academic Medical Center Amsterdam
Outcome results
None listed