Juvenile Neuronal Ceroid LipofuscinosisNCT05642221
Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls
An observational study of Juvenile Neuronal Ceroid Lipofuscinosis and Smith-Lemli-Opitz Syndrome, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 6 months to 110 years
- Conditions the study is for
- Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome, Creatine Transporter Deficiency
- How many people
- 73 participants
- Where
- 1 siteUnited States
- Study dates
- 23 Jan 2023to 25 Apr 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months to 110 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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
Who may be able to join
- 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
Who cannot join
- 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):
Show all 9Show fewer
- Known or suspected cognitive impairment
- Known history of MRI abnormality
- Current use of psychotropic medications
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
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.
Read more
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.
Read the detailed description
Study Description:
Brain hypometabolism has been observed in neurologic conditions. These data were obtained using modalities that involved radiation exposure and were not easily amenable to being combined with performance of functional tasks. Functional near-infrared spectroscopy (fNIRS) and Diffusion Correlation Spectroscopy (DCS) are noninvasive, easy-to-use, and portable brain imaging technology that enable studies of metabolic parameters and their alterations with task performance in neurotypical and neurocognitively affected individuals. Specifically, it enables the study of brain oxygen utilization which likely correlates with brain metabolism. We are proposing a pilot study of the use of fNIRS and DCS in neurocognitive disorders that have been extensively followed in our groups: Niemann-Pick disease type C1 (NPC1), creatine transporter deficiency (CTD), Smith Lemli Opitz syndrome (SLOS), Juvenile Neuronal Ceroid Lipofuscinosis (CLN3 disease), and Phelan-McDermid (PMS) syndrome. We want to compare findings in these populations to neurotypical healthy controls.
Objectives:
The primary objective of this pilot study is to determine the feasibility of fNIRS-DCS in individuals with neurocognitive-related disorders.
The secondary objectives of this study are:
- To collect pilot data on individuals with neurocognitive disorders to determine the patterns of cerebral oxygen consumption as measured by fNIRS and DCS.
- To compare cerebral oxygen consumption changes from resting state in affected individuals versus age-appropriate healthy volunteers.
An exploratory objective is to correlate cerebral oxygen consumption changes from resting state in affected individuals to other measures of disease state (e.g., neuropsychological assessment, disease-specific severity rating scales). Another exploratory objective is to examine test-retest reliability of our fNIRS-DCS measures at rest and during specific tasks in both affected individuals and healthy controls.
Endpoints:
Primary endpoints:
Adverse events, number of individuals who complete study
Secondary endpoints:
Patterns of cerebral oxygen consumption and blood flow in neurocognitive disorders compared to healthy controls.
- Conditions
- Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type C1
- Keywords
- Brain Hypometabolism, Cerebral Blood Flow, Portable Brain Imaging, Cerebral O2 Changes, Neurocognitive Disorders, Natural History
- Medical subject headings
- Neuronal Ceroid-Lipofuscinoses, Smith-Lemli-Opitz Syndrome, Creatine deficiency, X-linked, Niemann-Pick Disease, Type A, Neurocognitive Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 | individuals without known health or medical issues (i.e. healthy volunteers) | |
| 2 | individuals with known neurocognitive disorders (i.e. affected) |
What is being measured
The primary outcome is the main question the study is designed to answer.
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%).
Measured: 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%).
Measured: 2 years
Secondary outcomes (2)
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.
Measured: 2 years
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.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Dec 2022
- Study start23 Jan 2023
- Primary completion10 Oct 2024
- Study completion25 Apr 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Juvenile Neuronal Ceroid LipofuscinosisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 73 participants (actual)
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Forbes D Porter, M.D., Principal investigator, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05642221
- Sponsor's protocol ID
- 10000862
- Other IDs
- 000862-CH
- Status last verified
- 3 Apr 2026
- First submitted
- 7 Dec 2022
- Last updated
- 13 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 13 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT05642221
- Acronym / sponsor ID
- 10000862
- Conditions
- Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type C1
- Keywords
- Brain Hypometabolism, Cerebral Blood Flow, Portable Brain Imaging, Cerebral O2 Changes, Neurocognitive Disorders, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 73 participants (actual)
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Study start
- 23 Jan 2023 (actual)
- Primary completion
- 10 Oct 2024 (actual)
- Study completion
- 25 Apr 2025 (actual)
- First posted
- 8 Dec 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Study Description:
Brain hypometabolism has been observed in neurologic conditions. These data were obtained using modalities that involved radiation exposure and were not easily amenable to being combined with performance of functional tasks. Functional near-infrared spectroscopy (fNIRS) and Diffusion Correlation Spectroscopy (DCS) are noninvasive, easy-to-use, and portable brain imaging technology that enable studies of metabolic parameters and their alterations with task performance in neurotypical and neurocognitively affected individuals. Specifically, it enables the study of brain oxygen utilization which likely correlates with brain metabolism. We are proposing a pilot study of the use of fNIRS and DCS in neurocognitive disorders that have been extensively followed in our groups: Niemann-Pick disease type C1 (NPC1), creatine transporter deficiency (CTD), Smith Lemli Opitz syndrome (SLOS), Juvenile Neuronal Ceroid Lipofuscinosis (CLN3 disease), and Phelan-McDermid (PMS) syndrome. We want to compare findings in these populations to neurotypical healthy controls.
Objectives:
The primary objective of this pilot study is to determine the feasibility of fNIRS-DCS in individuals with neurocognitive-related disorders.
The secondary objectives of this study are:
- To collect pilot data on individuals with neurocognitive disorders to determine the patterns of cerebral oxygen consumption as measured by fNIRS and DCS.
- To compare cerebral oxygen consumption changes from resting state in affected individuals versus age-appropriate healthy volunteers.
An exploratory objective is to correlate cerebral oxygen consumption changes from resting state in affected individuals to other measures of disease state (e.g., neuropsychological assessment, disease-specific severity rating scales). Another exploratory objective is to examine test-retest reliability of our fNIRS-DCS measures at rest and during specific tasks in both affected individuals and healthy controls.
Endpoints:
Primary endpoints:
Adverse events, number of individuals who complete study
Secondary endpoints:
Patterns of cerebral oxygen consumption and blood flow in neurocognitive disorders compared to healthy controls.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –individuals without known health or medical issues (i.e. healthy volunteers) |
| 2 | – | –individuals with known neurocognitive disorders (i.e. affected) |
Who may qualify
- Ages
- 6 months to 110 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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
Key inclusion criteria (7 listed)
- For both study populations (Affected and Typically Developing group):
- For study population (Affected group):
- --Neurocognitive-related conditions including SLOS, CLN3, CTD, NPC and PMS.
- For controls (Typically Developing Group):
Key exclusion criteria (9 listed)
- For both study populations (Affected and Typically Developing group):
- For controls (Typically Developing Group):
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Proportion of individuals who complete the study relative to those in which data collection was attempted
Time frame: 2 years
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%).
Adverse events
Time frame: 2 years
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 secondary outcomes
Cerebral activation, measured via O2 changes, in resting and in active state
Time frame: 2 years
Cerebral blood flow in resting and active state
Time frame: 2 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Oct 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
Related trials for Juvenile Neuronal Ceroid Lipofuscinosis
RecruitingObservational study
Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis (CLN3), Batten Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Forbes D Porter, M.D. principal investigator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Juvenile Neuronal Ceroid Lipofuscinosis and Smith-Lemli-Opitz Syndrome, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 9 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 13 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Proportion of individuals who complete the study relative to those in which data collection was attempted (time frame: 2 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Oct 2026; AzTrials last refreshed its copy on 31 Oct 2026.