Protocol Details
Observational Study to Deeply Phenotype Major Organs in Sickle Cell Disease After Curative Therapies
This study is currently recruiting participants.
Summary
Number |
000479-H |
Sponsoring Institute |
National Heart, Lung and Blood Institute (NHLBI) |
Recruitment Detail |
Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 18 Years
Max Age: 100 Years |
Referral Letter Required |
Yes |
Population Exclusion(s) |
Adults who are or may become unable to consent;
Children |
Keywords |
Hydroxyurea;
Hydroxyurea-Increased Fetal Hemoglobin;
sickle cell anemi;
Patterns of mortality in sickle cell disease;
Mortality rates and age at death from sickle cell;
Natural History |
Recruitment Keyword(s) |
None |
Condition(s) |
Mortality in Sickle Cell;
Sickle Cell Cardiopulmonary complications;
Sickle Cell Organ Damage;
Sickle Cell Life expectancy and risk factors for early death;
Sickle cell lung disease and sudden death |
Investigational Drug(s) |
None |
Investigational Device(s) |
None |
Intervention(s) |
None |
Supporting Site |
National Heart, Lung, and Blood Institute |
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.
Eligibility
INCLUSION CRITERIA:
In order to be eligible to participate in this study, an individual must meet all of the following criteria:
1. Stated willingness to comply with all study procedures and availability for the duration of the study
2. Male or female, aged >=18 years
3. Current or previous diagnosis of any type of SCD (including HbSS, HbSC, HbSbeta0-thal, HbSbeta+-thal)
4. Ability to travel to the NIH Clinical Center
5. Ability of subject to understand and the willingness to sign a written informed consent document.
6. Ability to undergo required studies except as specified in the Exclusion Criteria.
7. Curative Therapies Group
--Plan to receive conditioning for curative therapy at the NIH Clinical Center, Vanderbilt University Medical Center, or Johns Hopkins Hospital
8. Non-Curative Therapy Group
-- No plan to undergo curative therapy within 2 years
9. At least one of the following eligibility criteria:
-- History of stroke or abnormal transcranial doppler examination (>= 200 m/s)
-- History of SCD-related renal insufficiency defined as a creatinine level >=1.3 mg/dL and kidney biopsy consistent with sickle cell nephropathy OR nephrotic syndrome OR creatinine clearance < 50mL/min
-- Tricuspid regurgitant velocity >= 2.5 m/s
-- Recurrent tricorporal priapism defined as at least 2 episodes of an erection lasting > 4 hours involving the corpora cavernosa and corpus spongiosa
-- SCD-associated liver disease defined as EITHER ferritin > 1000 mcg/L OR direct bilirubin > 0.4 mg/dL
-- > 1 hospitalization per year for vaso-occlusive crises while on a therapeutic dose of hydroxyurea
-- Any acute chest syndrome while on a therapeutic dose of hydroxyurea
-- Osteonecrosis of 2 or more joints
-- Red cell alloimmunization
EXCLUSION CRITERIA:
All individuals meeting any of the exclusion criteria at baseline will be excluded from study participation.
1. Prior transplantation (including but not limited to HSCT and kidney transplant)
2. Pregnant or breastfeeding
3. 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
4. Implanted metal object that is not compatible with MRI (e.g.: cerebral aneurysm clip, cochlear implant, or pacemaker)
5. Patients with a pacemaker or automated implantable cardioverter defibrillator will not undergo VCTE but can enroll and undergo the other deep phenotype testing as long as the device is compatible with MRI and MRI testing can be performed
6. Patients requiring peritoneal or hemodialysis
7. Uncontrolled infection or acute illness
8. Criteria specific to the non-curative therapy group:
a. Hydroxyurea initiation or dose adjustment <2 months prior
b. Initiation of chronic transfusion therapy <2 months prior
c. Antihypertensive medication initiation or dose adjustment <1 month prior
Citations:
Not Provided
Contacts:
Clinical Trials Number:
NCT05213572