RecruitingNCT04166526

A Pilot Study on Neuroimaging in SCD: Part of The Boston Consortium to Cure Sickle Cell Disease


Sponsor

Boston Children's Hospital

Enrollment

8 participants

Start Date

Oct 25, 2019

Study Type

OBSERVATIONAL

Conditions

Summary

Sickle Cell Disease (SCD) impairs oxygen transport to tissue and causes endothelial injury. Thus, therapeutic interventions aim to improve both, but there is an unmet need for biomarkers to determine when intervention is necessary and evaluate the effectiveness of the chosen intervention in individual patients. This study proposes to monitor SCD and its treatment through their impact on cerebral hemodynamics, as the brain is one of the most vulnerable and consequential targets of the disease. Specifically, this study will optimize quantitative magnetic resonance imaging (MRI) and advanced optical spectroscopy techniques such as frequency-domain near-infrared and diffuse correlation spectroscopies (FDNIRS-DCS) to monitor 1) cerebral oxygen transport with measures of cerebral blood flow (CBF), cerebral oxygen extraction fraction (OEF) and cerebral metabolic rate of oxygen consumption (CMRO2) and 2) endothelial function with cerebrovascular reactivity (CVR). Additionally, this study aims to monitor baseline cerebral oxygen transport and CVR, as well as changes that occur with treatment (transfusion or genetic therapy to induce fetal hemoglobin) and assess hemoglobinopathy patients with known genotypes and phenotypes. The ultimate goal is to demonstrate the potential of this monitoring approach to select individual SCD subjects for interventions and evaluate individual responses to treatment. Success will help justify inclusion of these modalities in ongoing and future clinical trials of novel SCD therapies.


Eligibility

Min Age: 8 YearsMax Age: 18 Years

Inclusion Criteria11

  • Group 1 (healthy controls):
  • Children ages 8-18 without SCD
  • Group 2 (SCD patients without treatment):
  • SCD patients ages 8-18 who:
  • have not undergone gene therapy or a bone marrow transplant
  • are not receiving chronic transfusions
  • have not received a blood transfusion in the past 3 months
  • Group 3 (SCD patients who have undergone gene therapy):
  • SCD patients ages 8-18 who have had gene therapy at least one month prior to enrollment
  • Group 4 (SCD patients who have chronic transfusions):
  • SCD patients ages 8-18 who receive chronic transfusions

Exclusion Criteria7

  • Electrical implants such as cardiac pacemakers or perfusion pumps;
  • Ferromagnetic implants such as aneurysm clips, surgical clips, prosthesis, artificial hearts, valves with steel parts, metal fragments, shrapnel, tattoos near the eye, or steel implants;
  • Ferromagnetic objects such as jewelry or metal clips;
  • Women of childbearing age who are seeking to become pregnant, who are breastfeeding, or who suspect they may be pregnant;
  • Pre-existing medical conditions including a likelihood of developing seizures or claustrophobic reactions;
  • Any greater than normal potential for cardiac arrest;
  • Subjects requiring sedation for MRI

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Interventions

DEVICEFDNIRS-DCS

FDNIRS-DCS measurements will be performed at the same time as all MRI scans. Participants in Group 4 will have additional measurements before, during, and after the their scheduled transfusion.

DEVICEMRI

Participants in Groups 1-3 will receive a single, hour-long MRI. Participants in Group 4 will receive two, one hour long MRI scans: one within a week prior to their transfusion and one within a week after their transfusion.


Locations(1)

Boston Children's Hospital

Boston, Massachusetts, United States

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NCT04166526


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