Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis.
Amelia Luckett, Muhammad Yousef, Cynthia Tifft...
https://pubmed.ncbi.nlm.nih.gov/36461157Actively Recruiting
Age: 1Week - 100Years
All Genders
ID03307304
Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) and Related Conditions
Led by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Updated on 2026-02-24
300
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying Juvenile Neuronal Ceroid Lipofuscinosis (CLN3), also known as Batten disease, a genetic disorder that causes decline in brain and nervous system functions affecting vision, thinking, movement, and sometimes causing seizures. Symptoms usually start between ages 4 and 7, and there are currently no effective treatments. The study aims to find clinical and biochemical markers that can be used to measure treatment outcomes and to better understand the disease for future therapies. Participants include individuals diagnosed with CLN3 or related conditions as well as their family members. They will provide various biological samples such as spinal fluid, blood, urine, and skin, and may also contribute medical records or photos. Multiple healthcare specialists will evaluate them, and collected samples may be shared with other researchers for testing, with privacy protections in place. During the study, participants will undergo assessments to collect baseline and progression data on clinical and biochemical markers. Researchers will establish a biorepository of samples for future research. The study will monitor tolerability and feasibility of assessments and aims to provide tools for future therapeutic trials. Participation may involve yearly follow-ups, and the study is ongoing with no fixed end date.
CONDITIONS
Brief Title
Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
Who Can Participate
Age: 1Week - 100Years
All Genders
Eligibility Criteria
You may qualify if you...
- Participants must be older than 1 week of age.
- Diagnosis of CLN3 or related neuronal ceroid lipofuscinosis (NCL) confirmed by two genetic mutations or one mutation plus clinical or electron microscopy findings.
- Family members of individuals diagnosed with CLN3 or related NCL conditions may also participate.
- Participants of all genders, demographics, geographic locations, and disease severities are eligible.
- Participants may provide medical records, photos, and biological samples for research.
- Participants can be followed annually for longitudinal data collection.
You will not qualify if you...
- Individuals unable to travel to the study site due to medical reasons.
- Individuals who cannot comply with the study protocol or have medical conditions increasing participation risk.
- Pregnant females are excluded.
- Unaffected individuals over 18 years old with cognitive impairments are excluded from sub-studies.
- Individuals unable to comply with protocol or with increased medical risks are excluded from sub-studies.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - Baseline assessments at enrollment
Participants undergo clinical and biochemical assessments to identify markers related to CLN3 and related conditions.
1 baseline visit (in-person)
Long-term Monitoring
Duration - Annual visits for up to several years
Participants are followed annually to collect longitudinal clinical data, biological samples, and evaluate disease progression.
Annual visits (in-person) for data and sample collection
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
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Research Team
A
An N Dang Do, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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Published Research Related To This Trial
Use of the Vineland-3, a measure of adaptive functioning, in CLN3.
An N Dang Do, Audrey E Thurm, Cristan A Farmer...
https://pubmed.ncbi.nlm.nih.gov/34913584Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures.
Myriam Abdennadher, Sara Inati, Ariane Soldatos...
https://pubmed.ncbi.nlm.nih.gov/33550636