Smith-Lemli-Opitz Syndrome Clinical Trial
Official title:
Pilot Study of the Use of Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls
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.
Status | Recruiting |
Enrollment | 100 |
Est. completion date | March 1, 2026 |
Est. primary completion date | March 1, 2026 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | 6 Months to 110 Years |
Eligibility | - INCLUSION CRITERIA: - 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 EXCLUSION CRITERIA: - 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 |
Country | Name | City | State |
---|---|---|---|
United States | National Institutes of Health Clinical Center | Bethesda | Maryland |
Lead Sponsor | Collaborator |
---|---|
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 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 | |
Primary | 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 | Cerebral activation, measured via O2 changes, in resting and in active state | We hypothesize that fNIRS and DCS will show cerebral oxygen consumption differences between neurocognitive disorders and age-matched typically developing controls. | 2 years | |
Secondary | Cerebral blood flow in resting and active state | We hypothesize that fNIRS and DCS will show cerebral oxygen consumption differences between neurocognitive disorders and age-matched typically developing controls. | 2 years |
Status | Clinical Trial | Phase | |
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