Ignite Creation Date:
2024-05-06 @ 12:42 PM
Last Modification Date:
2024-10-26 @ 1:02 PM
Study NCT ID:
NCT03822650
Status:
COMPLETED
Last Update Posted:
2024-06-27
First Post:
2019-01-27
Brief Title:
A Natural History Study of Neuronal Ceroid Lipofuscinosis Type 5 CLN5
Sponsor:
Neurogene Inc
Organization:
Neurogene Inc
Study Overview
Official Title:
A Natural History and Outcome Measure Discovery Study of Neuronal Ceroid Lipofuscinosis Type 5 CLN5
Status:
COMPLETED
Status Verified Date:
2024-06
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
CLN5 is a form of Batten Disease a neurodegenerative disorder in children causing psychomotor regression seizures blindness loss of ambulation and premature death and has no available treatments
The purpose of this study is to investigate the clinical characteristics and natural clinical progression of symptoms in individuals with 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
The purpose of this study is to investigate the clinical characteristics and natural clinical progression of symptoms in individuals with 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
Detailed Description:
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
CLN5 is a 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
CLN5 is a 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None