Recruiting

Observational Study

Sponsor:

Boston Children's Hospital

Code:

NCT04166526

Conditions

Sickle Cell Disease

Eligibility Criteria

Sex: All

Age: 8 - 18

Healthy Volunteers: Not accepted

Interventions

FDNIRS-DCS

MRI

Study Details

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.

Conditions

Sickle Cell Disease

Study ID

NCT04166526

Start date

Oct 25, 2019

Status verified date

Dec, 2025

Completion date

Aug 1, 2027

Anticipated

Primary completion date

May 1, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 8 - 18

Healthy Volunteers: Not accepted

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

Enrollment

8 participants

Anticipated

Interventions and Outcome Measures

Arms

Group 1: Typically developing children

Participants 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 2: Children with SCD not receiving treatment

Participants 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 3: Children with SCD who have undergone gene therapy

Participants 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 transfusions

Participants 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.

Interventions

FDNIRS-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.

MRI

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.

Primary outcome measure

  • Accuracy of FDNIRS-DCS in measuring blood oxygenation of the brain [ Time Frame: 6 months ]

Central Contacts and Locations

Central contacts

Ellen Grant, MD

857-218-5111Ellen.Grant@childrens.harvard.edu

Katherine Eident, BS

617-355-2184katherine.eident@childrens.harvard.edu

Locations

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Jessie Sims

617-919-1309Jessica.Sims@childrens.harvard.edu

More Information

Sponsor

Boston Children's Hospital

Last update posted

Dec 12, 2025

Last verified

Dec, 2025

Keywords

  • Sickle Cell
  • MRI
  • Near Infrared Spectroscopy (NIRS)

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Boston Children's Hospital on 2025-12-12.