A Natural History Study of Late Infantile Variant CLN7 And CLN5 Disease
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|ClinicalTrials.gov Identifier: NCT03822650|
Recruitment Status : Suspended (Revising Protocol Based on Expert Feedback)
First Posted : January 30, 2019
Last Update Posted : May 29, 2020
CLN7 and CLN5 are forms of Batten Disease, and neurodegenerative disorders in children causing psychomotor regression, seizures, blindness, loss of ambulation and premature death, and have no available treatments.
The purpose of this study is to investigate the clinical characteristics and natural clinical progression of symptoms in individuals with CLN7 and CLN5. This natural history study is important to better understand disease course to be able to determine clinically relevant outcome measures for use in future clinical trials.
|Condition or disease|
|Ceroid Lipofuscinosis, Neuronal 7 Ceroid Lipofuscinosis, Neuronal 5|
Neuronal Ceroid Lipofuscinosis (NCL) are comprised of a group of fatal neurodegenerative diseases caused by mutations in an enzyme or protein which results in the accumulation of toxic deposits in the eye, brain, skin, muscle and other cells.
CLN7 is a type of NCL caused by homozygous or bi-allelic heterozygous variants in CLN7/MFSD8 gene, whose function is poorly characterized. CLN7 presents with neurological signs, including blindness, seizures, progressive deterioration in intellectual and motor capabilities, culminating in premature death in the first or second decade of life.
CLN5 is another type of NCL, caused by homozygous or bi-allelic heterozygous variants in the CLN5 gene. Lack of CLN5 protein impairs the breakdown of certain proteins, leads to defective lysosomal trafficking, resulting in accumulation of toxic material and subsequent cell damage. CLN5 disease presents in childhood with neurological findings including motor clumsiness and attention disturbances, followed by progressive visual failure, psychomotor depression, epilepsy, and premature death.
No investigational product will be provided in the study.
|Study Type :||Observational|
|Estimated Enrollment :||30 participants|
|Official Title:||A Natural History and Outcome Measure Discovery Study of Variant Late Infantile Neuronal Ceroid Lipofuscinosis Type 5 (CLN5) and Variant Late Infantile Neuronal Ceroid Lipofuscinosis Type 7 (CLN7)|
|Actual Study Start Date :||March 13, 2019|
|Estimated Primary Completion Date :||June 2026|
|Estimated Study Completion Date :||December 2026|
- Unified Batten Disease Rating Scale (UBDRS) [ Time Frame: 5 years ]Disease-specific clinical assessment used to assess physical, seizure, behavioral and functional capabilities. For physical assessments scores range from 0 to 4 with the score of 4 being most severe.
- Late Infantile Neuronal Ceroid Lipofuscinosis Rating Scale (Hamburg Scale) [ Time Frame: 5 years ]Disease specific tool used to capture 4 domains including motor function, seizures, visual function and language. Each sub-scale can be scored from 0-3 points in which 0 represents loss of function.
- Electroencephalography (EEG) [ Time Frame: 5 years ]EEG records electrical brain activity and Interictal discharges (location, focal/generalized, etc) will be compared to baseline and characterized over time.
- Vineland Adaptive Behavior Scale, 2rd or 3rd Edition (Vineland-II, Vineland-3) [ Time Frame: 5 years ]Standard assessment measuring communication, socializing, and daily living skills to assess their overall adaptive functioning for individuals up to 90 years of age. A higher score generally corresponds with higher adaptive function.
- NEPSY, 2nd Edition (NEPSY-2) * [ Time Frame: 5 years ]Neuropsychological assessment to evaluate language skills for individuals 3-16 years of age.
- Woodcock-Johnson-IV Tests of Cognitive Abilities (WJ-IV)* [ Time Frame: 5 years ]Evaluates strengths and weaknesses among cognitive abilities in subjects 2-90 years of age. A higher score generally corresponds with higher function.
- Bayley Scales of Infant and Toddler Development Test, 3rd edition (Bayley-3) * [ Time Frame: 5 years ]Developmental test that measures cognitive, language, motor, and social-emotional domains of infants and young children between 1 and 42 months of age. A higher score generally corresponds with higher function.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03822650
|United States, New York|
|University of Rochester Medical Center|
|Rochester, New York, United States, 14642|
|Study Director:||Elise Beausoleil||Neurogene Inc.|