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

Recruiting
Conditions
Sickle Cell Disease
Interventions
Device: FDNIRS-DCS
Device: MRI
Registration Number
NCT04166526
Lead Sponsor
Boston Children's Hospital
Brief 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.

Detailed Description

Not available

Recruitment & Eligibility

Status
RECRUITING
Sex
All
Target Recruitment
8
Inclusion Criteria

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 Criteria
  • 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

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Arm && Interventions
GroupInterventionDescription
Group 2: Children with SCD not receiving treatmentMRIParticipants of this group have a diagnosis of SCD, but do not receive chronic transfusions, gene therapy or bone marrow transplants. These participants will undergo an MRI, lasting approximately an hour, with simultaneous FDNIRS-DCS monitoring.
Group 2: Children with SCD not receiving treatmentFDNIRS-DCSParticipants of this group have a diagnosis of SCD, but do not receive chronic transfusions, gene therapy or bone marrow transplants. These participants will undergo an MRI, lasting approximately an hour, with simultaneous FDNIRS-DCS monitoring.
Group 1: Typically developing childrenFDNIRS-DCSParticipants of this group will not have a diagnosis of SCD. These participants will undergo an MRI, lasting approximately an hour, with simultaneous FDNIRS-DCS monitoring.
Group 4: Children with SCD who have chronic transfusionsMRIParticipants of this group have a diagnosis of SCD and receive chronic transfusions. These participants will undergo an MRI, lasting approximately an hour, with simultaneous FDNIRS-DCS monitoring.
Group 1: Typically developing childrenMRIParticipants of this group will not have a diagnosis of SCD. These participants will undergo an MRI, lasting approximately an hour, with simultaneous FDNIRS-DCS monitoring.
Group 3: Children with SCD who have undergone gene therapyFDNIRS-DCSParticipants of this group have a diagnosis of SCD and have had gene therapy at least one month prior to enrollment. These participants will undergo an MRI, lasting approximately an hour, with simultaneous FDNIRS-DCS monitoring.
Group 3: Children with SCD who have undergone gene therapyMRIParticipants of this group have a diagnosis of SCD and have had gene therapy at least one month prior to enrollment. These participants will undergo an MRI, lasting approximately an hour, with simultaneous FDNIRS-DCS monitoring.
Group 4: Children with SCD who have chronic transfusionsFDNIRS-DCSParticipants of this group have a diagnosis of SCD and receive chronic transfusions. These participants will undergo an MRI, lasting approximately an hour, with simultaneous FDNIRS-DCS monitoring.
Primary Outcome Measures
NameTimeMethod
Accuracy of FDNIRS-DCS in measuring blood oxygenation of the brain6 months

Blood oxygenation of the brain will be measured using FDNIRS-DCS techniques and then compared with data from a simultaneous MRI scan.

Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (1)

Boston Children's Hospital

🇺🇸

Boston, Massachusetts, United States

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