This study is currently recruiting participants.
Number
000862-CH
Sponsoring Institute
National Institute of Child Health and Human Development (NICHD)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 6 mo Max Age: 110 Years
Referral Letter Required
No
Population Exclusion(s)
Non-English Speaking
Keywords
Brain Hypometabolism; Cerebral Blood Flow; Portable Brain Imaging; Cerebral O2 Changes; Neurocognitive Disorders; Natural History
Recruitment Keyword(s)
None
Condition(s)
Juvenile Neuronal Ceroid Lipofuscinosis; Smith-Lemli-Opitz Syndrome; Creatine Transporter Deficiency; Niemann-Pick Disease Type C1
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Institute of Child Health and Human Development
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.
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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
-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:
--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
--Known or suspected cognitive impairment
--Known history of MRI abnormality
--Current use of psychotropic medications
Principal Investigator
Referral Contact
For more information: