Metabolic and Hemodynamic Reserve in Pediatric SCA

NCT ID: NCT04406818

Last Updated: 2025-09-05

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 120 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2021-06-30
• Study Completion Date: 2026-03-31

Brief Summary

The purpose of this research study is to better understand how blood flow and metabolism change can influence brain development in the early decades of life. SCA participants and healthy controls are age and sex-matched for comparison. Within the SCA cohort, children with infarcts may have thinner cortices than those without, reflecting a greater loss.

The investigators will examine brain blood flow and metabolism using magnetic resonance imaging (MRI). The brain's blood vessels expand and constrict to regulate blood flow based on the brain's needs. The amount of expanding and contracting the blood vessels may vary by age. The brain's blood flow changes in small ways during everyday activities, such exercise, deep concentration, or normal brain growth. Significant illness or psychological stress may increase the brain's metabolic demand or cause other bigger changes in blood flow. If blood vessels are not able to expand to give more blood flow when metabolic demand is high, the brain may not get all of the oxygen it needs. In extreme circumstances, if the brain is unable to get enough oxygen for a long time, a stroke may occur. Sometimes small strokes occur without other noticeable changes and are only detectable on an MRI. These are sometimes called "silent strokes." In less extreme circumstances, not having a full oxygen supply may cause the brain to grow and develop more slowly than when it has a full supply.

One way to test the ability of blood vessels to expand is by measuring blood flow while breathing in carbon dioxide. Carbon dioxide causes blood vessels in the brain to dilate without increasing brain metabolism.

During this study participants may be asked to undergo a blood draw, MRI, cognitive assessments, and brief questionnaires. The study team will use a special mask to control the amount of carbon dioxide the participants breathe in.

Conditions

Child, Only; Brain Diseases; Sickle Cell Disease; Anemia, Sickle Cell

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: BASIC_SCIENCE
• Blinding Strategy: NONE

Study Groups

Healthy Control

Group Type: ACTIVE_COMPARATOR

Carbon Dioxide

Intervention Type: DRUG

Participants inhale carbon dioxide while in magnetic resonance imaging scan to measure cerebrovascular reactivity

Sickle Cell Anemia

Group Type: ACTIVE_COMPARATOR

Carbon Dioxide

Intervention Type: DRUG

Participants inhale carbon dioxide while in magnetic resonance imaging scan to measure cerebrovascular reactivity

Interventions

Carbon Dioxide

Participants inhale carbon dioxide while in magnetic resonance imaging scan to measure cerebrovascular reactivity

Intervention Type: DRUG

Eligibility Criteria

Inclusion Criteria

Healthy Controls:

• Healthy controls ages 4-21 years of age
• Able to participate in MRI scan without sedation
• Not currently pregnant
• No significant psychiatric history, defined as having a severe psychiatric diagnosis, per PI discretion
• No history of epilepsy
• No history of stroke or cerebrovascular disease
• May have occasional headaches if not taking a daily preventative medication for headaches
• Not on vasodilatory medication, such as sildenafil or verapamil

Sickle Cell Anemia Participants:

• Ages 4-21 years of age
• Hb SS or SBeta-thal
• Able to participate in MRI scan without sedation
• Not currently pregnant
• Not on vasodilatory medication, such as sildenafil or verapamil
• No known vasculopathy

• Minimum Eligible Age: 4 Years
• Maximum Eligible Age: 21 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role: collaborator

Washington University School of Medicine

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Kristin P Guilliams, MD

Role: PRINCIPAL_INVESTIGATOR

Washington University School of Medicine

Locations

Washington University in St. Louis

St Louis, Missouri, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Kristin P Guilliams, MD

Role: CONTACT

kristinguilliams@wustl.edu

3144546120

Facility Contacts

Kristin P Guillliams, MD

Role: primary

kristinguilliams@wustl.edu

(314) 454-6120

Other Identifiers

R01NS121065

Identifier Type: NIH

Identifier Source: secondary_id

View Link

202106016

Identifier Type: -

Identifier Source: org_study_id