Background:
People with sickle cell disease (SCD) have problems with their heart, brain, kidneys, liver, and lungs as they age. These problems may improve after transplant. Researchers want to learn how and why this happens.
Objective:
To study the benefits of treatments that are intended to cure SCD.
Eligibility:
People aged 18 and older with SCD who are either receiving curative therapy in the next 3 months or don t have any plans to receive a curative therapy in the next 2 years.
Design:
At their first visit, participants will be screened with their medical history and a physical exam.
Participants will then have a baseline visit. This will take about a week to complete and will include:
Blood and heart tests
MRI of the brain, heart, and lungs. Participants will lie on a bed that will move into the MRI scanner. Special padding may be placed around their head to keep it still.
Interactive games. Participants will complete computer games that test memory, attention, problem solving, language, spatial orientation, processing speed, and emotion.
Questionnaire rating quality of life
Iothalamate test. An IV catheter will be placed into a vein. A contrast agent will be injected through the IV. Blood will then be collected at different time points.
Lung function tests and a 6-minute walk test
Vibration controlled transient elastography. A probe placed on the abdomen will measure liver scarring.
DOS test. A light attached to the finger or toe will measure blood oxygen.
Participants will have an end-of-study visit about 2 years after their baseline visit. This will include repeats of the baseline visit tests.
Stated willingness to comply with all study procedures and availability for the duration of the study
Male or female, aged >=18 years
plan to receive an allogeneic HCT or gene therapy,
are receiving non-curative treatment (standard of care or investigational) and who do not plan to receive an allogeneic HCT or gene therapy
Prior transplantation (including but not limited to HSCT and kidney transplant)
Pregnant or breastfeeding
Patients with allergy to iodine or iodinated contrast solutions will not undergo Iothalamate or Iohexal GFR clearance testing but can undergo the other deep phenotype testing
Implanted metal object that is not compatible with MRI (e.g.: cerebral aneurysm clip, cochlear implant, or pacemaker)
Patients aged \>or= 18 years who will undergo curative therapies at the NIH Clinical Center and who have a diagnosis of any type of SCD (including HbSS, HbSC, HbSbeta0-thal, HbSbeta+-thal).
Case-only
Prospective
Not listed
Change in LVEDV/BSA in patients with SCD who undergo curative therapies as compared to patients who receive non-curative treatment
Evaluate whether diastolic function improves significantly more in patients who receive curative therapies as compared to those who receive non-curative treatment.
Change in creatinine, cystatin-C, urine protein to creatinine ratio, urine albumin to creatinine ratio, and estimated glomerular filtration rate (eGFR) using the CKD-EPI equation
Evaluate change in kidney function over time in patients with SCD who undergo curative therapies as compared to those who receive non-curative treatment.
Change in N-terminal pro b-type natriuretic peptide (NTproBNP).
Evaluate whether cardiopulmonary function improves more in patients who receive curative therapies as compared to non-curative therapy.
Change in left ventricular end diastolic diameter (LVEDD), ejection fraction, left ventricular mass index, left atrial volume index, global longitudinal strain
Evaluate whether cardiopulmonary function improves more in patients who receive curative therapies as compared to non-curative therapy.
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