RightFit
RecruitingPhase not listed

Observational Study to Deeply Phenotype Major Organs in Sickle Cell Disease After Curative Therapies

Who can join

As published by the study on ClinicalTrials.gov. "Not stated" means the study hasn't said — ask the study team.

Age
18 Years to 100 Years
Sex
All sexes
Healthy volunteers
Not accepted
Compensation
Not stated

Other requirements are listed under Eligibility below. Only the study team can confirm whether you can join.

What to expect

No one can promise a trial will help you personally — that is what the research is trying to find out.

What participation involves

  • Procedures mentioned: Physical exams, MRI scans, Questionnaires

Only what the study's summary and detailed description on ClinicalTrials.gov say. Time periods may describe the whole study or a part of it — ask the study team what applies to you.

Show the study's own words
  • "Design: At their first visit, participants will be screened with their medical history and a physical exam."
  • "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."
  • "Questionnaire rating quality of life Iothalamate test."
Compensation
Not stated
  • Study-related exams and procedures are typically provided at no cost. This is how many trials work in general — confirm the details for this study with the study team.
  • Participants are monitored closely by the research team throughout the study.
  • Some participants may receive access to an investigational treatment, which is still being studied.
  • Your participation helps researchers learn whether this approach could help future patients.

About this study

In plain language

This study looks at how treatments meant to cure sickle cell disease may help the heart, brain, kidneys, liver, and lungs. It is for adults who plan to get a donor stem cell transplant or gene therapy soon, or who do not plan to get these treatments in the next 2 years. Organ tests will be done at the start and again about 2 years later.

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.

Compensation is read from the study's own description and may be missing — always confirm with the study team.

Eligibility

Who can join

  • Be age 18 or older and have a current or past diagnosis of any type of sickle cell disease.
  • Plan to get a donor stem cell transplant or gene therapy within 3 months, or receive other treatment with no plans for either therapy in the next 2 years.
  • Be willing to follow all study steps and be available for the whole study.
  • Be able to travel to the NIH Clinical Center and understand the written study consent form.
  • Meet at least one of the health or treatment conditions listed below. You do not need to meet all of them.
  • Have a qualifying brain, kidney, heart, or liver finding: a past stroke, including one without symptoms; an abnormal brain blood-flow test; worsening brain blood vessel disease; sickle cell kidney damage; a high heart blood-flow reading; or high iron or direct bilirubin levels.
  • Have another qualifying sickle cell problem: repeated erections lasting over 4 hours; more than one hospital stay a year for pain crises while taking hydroxyurea; at least 2 episodes of acute chest syndrome, a serious lung problem; bone damage from poor blood flow in at least 2 joints; or immune reactions that make blood transfusions difficult.
  • Other qualifying conditions are at least 8 red blood cell transfusions in the past year to prevent sickle cell problems, or being eligible for a donor stem cell transplant or gene therapy at another transplant center.

Who can't join

  • Have had a transplant before, including a stem cell or kidney transplant.
  • Be pregnant or breastfeeding.
  • Have a metal object or device in your body that is not safe for MRI scans.
  • Need dialysis, a treatment that cleans the blood when the kidneys cannot.
  • Have an infection that is not under control or a current short-term illness.
  • An iodine or iodine-based contrast allergy does not rule you out, but you will skip certain kidney tests.
  • A pacemaker or implanted heart-shock device does not rule you out if it is MRI-safe and MRI testing can be done. You will skip the liver stiffness test.

Simplified for readability. The official criteria below are what the study team uses.

Official eligibility criteria

* 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. Patients with current or previous diagnosis of any type of SCD (including HbSS, HbSC, HbSbeta\^0-thal, HbSbeta\^+-thal) who: 1. plan to receive an allogeneic HCT or gene therapy, Or 2. are receiving non-curative treatment (standard of care or investigational) and who do not plan to receive an allogeneic HCT or gene therapy 4. Ability to travel to the NIH Clinical Center 5. Ability of subject to understand a written informed consent document. 6. At least one of the following eligibility criteria: * History of stroke (including silent stroke) or abnormal transcranial doppler examination (\>= 200 m/s) * Progression of central nervous system vasculopathy on MRA * History of SCD-related renal insufficiency defined as nephrotic syndrome OR creatinine clearance \< 60mL/min OR a creatinine level \>=1.3 mg/dL AND kidney biopsy consistent with sickle cell nephropathy * 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 receiving hydroxyurea treatment * A history of 2 or more acute chest syndrome episodes in the participant's lifetime. * Avascular necrosis of 2 or more joints * Red cell alloimmunization (delayed hemolytic transfusion reaction or significant red blood cell alloimmunization that makes transfusion difficult). * Administration of regular red blood cell (RBC) transfusion therapy (\>=8 red cell transfusions in the previous 12 months) to prevent SCD complications (i.e. pain, stroke, or acute chest syndrome). * Eligible for an allogeneic HCT or gene therapy at an outside transplant center. 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 Iohexol 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

Study sites (1)

MD