Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls

NCT05642221 | Completed

• 2 other identifiers: 10000862000862-CH
• Study Type: observational
• Target: 73
• Locations: 1 country
• Sites: 1

Brief Summary

Background: Neurocognitive disorders affect how the brain uses oxygen. They may affect mental development in children. These disorders can be studied with imaging scans that use radiation; however, these methods are not ideal for research on children. Two technologies-functional near-infrared spectroscopy (fNIRS) and diffuse correlation spectroscopy (DCS)-use light to detect changes in brain activity. These methods are safer, and they can be used in a more relaxed setting. In this natural history study, researchers want to find out whether fNIRS and DCS can be a good way to study people with neurocognitive disorders. Objective: To find out whether fNIRS and DCS can be useful in measuring brain activity in people with neurocognitive disorders. Eligibility: People aged 6 months or older with neurocognitive disorders. These can include Niemann-Pick disease type C1 (NPC1); creatine transporter deficiency (CTD); Smith Lemli Opitz syndrome (SLOS); juvenile neuronal ceroid lipofuscinosis (CLN3 disease); and Pheland-McDermid (PMS) syndrome. Healthy volunteers are also needed. Design: Participants will have a physical exam. They will have tests of their memory and thinking. Participants will sit in a quiet room for the fNIRS and DCS tests. A snug cap (like a cloth swim cap) will be placed on their head. The cap has lights and sensors. Another sensor will be placed on their forehead. Participants will perform tasks on a computer. This testing will take 45 to 60 minutes. The tests will be repeated within 1 to 4 weeks. Participants will be asked to return for repeat tests 1 year later.

Conditions

Creatine Transporter Deficiency; Niemann-Pick Disease Type C1; Juvenile Neuronal Ceroid Lipofuscinosis; Smith-Lemli-Opitz Syndrome

Keywords

Brain Hypometabolism; Cerebral Blood Flow; Portable Brain Imaging; Cerebral O2 Changes; Neurocognitive Disorders; Natural History

Outcome Measures

Primary Outcomes (2)

• Proportion of individuals who complete the study relative to those in which data collection was attempted

  We hypothesize that fNIRS and DCS will show low rates of adverse events across all participants (\<5%) and high rates of completed fNIRS-DCS data collections (\> 75%).

  2 years

• Adverse events

  We hypothesize that fNIRS and DCS will show low rates of adverse events across all participants (\<5%) and high rates of completed fNIRS-DCS data collections (\> 75%).

  2 years

Secondary Outcomes (2)

• Cerebral activation, measured via O2 changes, in resting and in active state

  2 years

• Cerebral blood flow in resting and active state

  2 years

Study Arms (2)

1

individuals without known health or medical issues (i.e. healthy volunteers)

2

individuals with known neurocognitive disorders (i.e. affected)

Eligibility Criteria

• Age: 6 Months - 110 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

individuals 6 months and older without known health or medical issues (i.e. healthy volunteers), and individuals with known neurocognitive disorders (i.e. affected). Healthy volunteers will be age- and sex-matched to the affected cohort

You may qualify if:

• For both study populations (Affected and Typically Developing group):
• Male or female, aged 6 months and up
• English is the primary language spoken at home
• For study population (Affected group):
• Neurocognitive-related conditions including SLOS, CLN3, CTD, NPC and PMS.
• For controls (Typically Developing Group):
• In good general health as determined by medical history and physical exam

You may not qualify if:

• For both study populations (Affected and Typically Developing group):
• Any condition that may affect placement of the fNIRS-DCS
• Past or present vascular disease
• Traumatic loss of consciousness in the last year
• Any condition which, in the opinion of the investigator, increases risk of participation or affects adherence to the protocol
• For controls (Typically Developing Group):
• Known or suspected cognitive impairment
• Known history of MRI abnormality
• Current use of psychotropic medications

Sponsors & Collaborators

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Neuronal Ceroid-Lipofuscinoses; Smith-Lemli-Opitz Syndrome; Creatine deficiency, X-linked; Niemann-Pick Disease, Type A; Neurocognitive Disorders

Condition Hierarchy (Ancestors)

Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Abnormalities, Multiple; Congenital Abnormalities; Steroid Metabolism, Inborn Errors; Dyslipidemias; Niemann-Pick Diseases; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Lymphatic Diseases; Hemic and Lymphatic Diseases; Lysosomal Storage Diseases; Mental Disorders

Study Officials

• Forbes D Porter, M.D.

  Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 7, 2022
• First Posted: December 8, 2022
• Study Start: January 23, 2023
• Primary Completion: October 10, 2024
• Study Completion: April 25, 2025
• Last Updated: April 24, 2026

Record last verified: 2026-04-03

Locations

US (1)