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

Description

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.

Conditions

Sickle Cell Disease

Study Overview

Study Details

Study overview

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.

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

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

Condition
Sickle Cell Disease
Intervention / Treatment

-

Contacts and Locations

Boston

Boston Children's Hospital, Boston, Massachusetts, United States, 02115

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Children ages 8-18 without SCD
  • * 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
  • * SCD patients ages 8-18 who have had gene therapy at least one month prior to enrollment
  • * SCD patients ages 8-18 who receive chronic transfusions
  • * 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

Ages Eligible for Study

8 Years to 18 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Boston Children's Hospital,

Ellen Grant, MD, PRINCIPAL_INVESTIGATOR, Boston Children's Hospital

Study Record Dates

2026-08-01