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낫적혈구병 환자의 치유적 치료 후 주요 장기의 깊은 표현형에 대한 관찰 연구

2026년 10월 21일 업데이트: National Heart, Lung, and Blood Institute (NHLBI)

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.

연구 개요

상태

모병

정황

상세 설명

Study Description:

This study seeks to evaluate heart, lung, liver, kidney, brain, and neurocognitive function post-hematopoietic stem cell transplant (HSCT) in patients with sickle cell disease (SCD) who undergo curative therapies. Patients who undergo curative therapies will be compared to adults with SCD who receive non-curative therapies at baseline and 2 years later. The primary hypothesis is that diastolic function will improve after successful curative therapy as compared to those receiving non-curative therapies. Secondary analyses will include assessment of cardiopulmonary and kidney function. This study includes assessment of organs before and 2 years after curative and non-curative therapies with deep phenotyping of the heart, lung, liver, brain, cognitive, and kidney function. This protocol will allow us to comprehensively explore sequelae of curative therapies on organ function in patients with SCD.

Objectives:

Primary Objective:

-Evaluate left ventricular end diastolic volume/body surface area (LVEDV/BSA) in patients with SCD who undergo curative therapies as compared to patients who receive non-curative therapies

Secondary Objectives:

  • Evaluate other markers of cardiopulmonary function in patients with SCD who undergo curative therapies as compared to those who receive non-curative therapies.
  • Evaluate change in kidney function over time in patients with SCD who undergo curative therapies as compared to those who receive non-curative therapies.

Tertiary Objectives:

  • Perform deep phenotyping of heart, lung, liver, kidney, brain and neurocognitive function along with reported genetic variants in adults with SCD who undergo curative therapies as compared to adults with SCD who receive non-curative therapies.
  • Assess markers of inflammation in patients with SCD who undergo curative therapies as compared to those who receive non-curative therapies.
  • Evaluate markers of graft rejection and tolerance induction in patients with SCD who undergo curative therapies.
  • Evaluate lipid profiles in patients with SCD who undergo curative therapies as compared to those who receive non-curative therapies.
  • Evaluate regional oxygenation (rS0(2)) with Near Infrared Spectroscopy (NIRS) in patients with SCD who undergo curative therapies as compared to those who receive non-curative therapies.
  • Evaluate novel biomarkers of organ damage in patients who receive curative therapies as compared to those who receive non-curative therapies.

Endpoints:

Primary Endpoint:

-Change in LVEDV/BSA

Secondary Endpoints:

  • Change in left ventricular end diastolic diameter (LVEDD), ejection fraction, left ventricular mass index, left atrial volume index, global longitudinal strain
  • Change in N-terminal pro b-type natriuretic peptide (NTproBNP).
  • 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

Tertiary Endpoints:

  • Change in myocardial fibrosis, extracellular volume fraction, processing speed, measured GFR, incidence of stroke/silent infarcts, cerebral blood flow, oxygen extraction fraction, and liver stiffness, and correlation of APOL1 risk alleles with renal function and degree of proteinuria
  • Change in c-reactive protein (CRP), erythrocyte sedimentation rate (ESR), inflammatory cytokines (including interferon gamma (IFN-gamma) and tumor necrosis factor alpha (TNF-a), chemokines, GlycA, D-dimer, and haptoglobin
  • Change in regulatory cells (including regulatory T cells and myeloid-derived suppressor cells) and proteins (including galectin, platelet factor 4, and thrombospondin-1) and suppressive cytokines (interleukin-10 (IL-10), transforming growth factor beta, and IL-7)
  • Change in very low-density lipoprotein (VLDL), low-density lipoprotein (LDL) and high-density lipoprotein (HDL) particle size and number, triglycerides, and apolipoprotein A-I and B
  • Change in rS0(2) within the peripheral limb with NIRS
  • Correlation of novel genetic biomarkers associated with organ damage in patients with SCD who receive curative therapy or noncurative therapy.

연구 유형

관찰

등록 (추정된)

200

연락처 및 위치

이 섹션에서는 연구를 수행하는 사람들의 연락처 정보와 이 연구가 수행되는 장소에 대한 정보를 제공합니다.

연구 연락처

연구 연락처 백업

연구 장소

  • 미국
    • Maryland
      • Bethesda, Maryland, 미국, 20892
        • 모병
        • National Institutes of Health Clinical Center
        • 연락하다:
          • For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
          • 전화번호: TTY dial 711 800-411-1222
          • 이메일: ccopr@nih.gov

참여기준

연구원은 적격성 기준이라는 특정 설명에 맞는 사람을 찾습니다. 이러한 기준의 몇 가지 예는 개인의 일반적인 건강 상태 또는 이전 치료입니다.

자격 기준

공부할 수 있는 나이

18년 (성인, 고령자)

건강한 자원 봉사자를 받아들입니다

아니

연구 대상 성별

모두

샘플링 방법

비확률 샘플

연구 인구

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).

설명

  • 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

공부 계획

이 섹션에서는 연구 설계 방법과 연구가 측정하는 내용을 포함하여 연구 계획에 대한 세부 정보를 제공합니다.

연구는 어떻게 설계됩니까?

디자인 세부사항

  • 관찰 모델: CASE_ONLY
  • 시간 관점: PROSPECTIVE

코호트 및 개입

그룹/코호트
subjects w sickle cell disease

to evaluate heart, lung, liver, kidney, brain, and neurocognitive function post-hematopoietic stem cell transplant (HSCT) in subjects with sickle cell disease (SCD) who undergo curative therapies

연구는 무엇을 측정합니까?

주요 결과 측정

결과 측정
측정값 설명
기간
Change in LVEDV/BSA in patients with SCD who undergo curative therapies as compared to patients who receive non-curative treatment
기간: 2 years after initial testing

Evaluate whether diastolic function improves significantly more in patients who receive curative therapies as compared to those who receive non-curative treatment.
2 years after initial testing

2차 결과 측정

결과 측정
측정값 설명
기간
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
기간: 2 years

Evaluate change in kidney function over time in patients with SCD who undergo curative therapies as compared to those who receive non-curative treatment.
2 years
Change in N-terminal pro b-type natriuretic peptide (NTproBNP).
기간: 2 years

Evaluate whether cardiopulmonary function improves more in patients who receive curative therapies as compared to non-curative therapy.
2 years
Change in left ventricular end diastolic diameter (LVEDD), ejection fraction, left ventricular mass index, left atrial volume index, global longitudinal strain
기간: 2 years

Evaluate whether cardiopulmonary function improves more in patients who receive curative therapies as compared to non-curative therapy.
2 years

공동 작업자 및 조사자

여기에서 이 연구와 관련된 사람과 조직을 찾을 수 있습니다.

스폰서

National Heart, Lung, and Blood Institute (NHLBI)

수사관

  • 수석 연구원: Courtney F Joseph, M.D., National Heart, Lung, and Blood Institute (NHLBI)

간행물 및 유용한 링크

연구에 대한 정보 입력을 담당하는 사람이 자발적으로 이러한 간행물을 제공합니다. 이것은 연구와 관련된 모든 것에 관한 것일 수 있습니다.

유용한 링크

연구 기록 날짜

이 날짜는 ClinicalTrials.gov에 대한 연구 기록 및 요약 결과 제출의 진행 상황을 추적합니다. 연구 기록 및 보고된 결과는 공개 웹사이트에 게시되기 전에 특정 품질 관리 기준을 충족하는지 확인하기 위해 국립 의학 도서관(NLM)에서 검토합니다.

연구 주요 날짜

연구 시작 (실제)

2022년 3월 24일

기본 완료 (추정된)

2035년 6월 1일

연구 완료 (추정된)

2035년 6월 1일

연구 등록 날짜

최초 제출

2022년 1월 27일

QC 기준을 충족하는 최초 제출

2022년 1월 27일

처음 게시됨 (실제)

2022년 1월 28일

연구 기록 업데이트

마지막 업데이트 게시됨 (실제)

2026년 10월 22일

QC 기준을 충족하는 마지막 업데이트 제출

2026년 10월 21일

마지막으로 확인됨

2026년 10월 16일

추가 정보

이 연구와 관련된 용어

키워드

추가 관련 MeSH 약관

기타 연구 ID 번호

  • 10000479
  • 000479-H

약물 및 장치 정보, 연구 문서

미국 FDA 규제 의약품 연구

아니

미국 FDA 규제 기기 제품 연구

아니

이 정보는 변경 없이 clinicaltrials.gov 웹사이트에서 직접 가져온 것입니다. 귀하의 연구 세부 정보를 변경, 제거 또는 업데이트하도록 요청하는 경우 register@clinicaltrials.gov. 문의하십시오. 변경 사항이 clinicaltrials.gov에 구현되는 즉시 저희 웹사이트에도 자동으로 업데이트됩니다. .

구독하다